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Background: Left atrial (LA) function is crucial for assessing left ventricular filling in various cardiovascular conditions. Cardiac Amyloidosis (CA) is characterized by atrial myopathy and LA function impairment, with diastolic dysfunction up to restrictive filling pattern, leading to progressive heart failure and arrhythmias. This study evaluates LA function and deformation using speckle tracking echocardiography (STE) in patients with CA compared to a cohort of patients with sarcomeric Hypertrophic Cardiomyopathy (HCM) and a control group. Methods: We conducted a retrospective, observational study (from January 2019 to December 2022) including a total of 100 patients: 33 with ATTR-CA, 34 with HCMs, and 33 controls. Clinical evaluation, electrocardiograms, and transthoracic echocardiography were performed. Echocardiogram images were analyzed in post-processing using EchoPac software for LA strain quantification, including LA-reservoir, LA-conduit, and LA-contraction strain. Results: The CA group exhibited significantly impaired LA function compared to HCMs and control groups, with LA-reservoir median values of −9%, LA-conduit −6.7%, and LA-contraction −3%; this impairment was consistent even in the CA subgroup with preserved ejection fraction. LA strain parameters correlated with LV mass index, LA volume index, E/e’, and LV-global longitudinal strain and were found to be associated with atrial fibrillation and exertional dyspnea. Conclusions: LA function assessed by STE is significantly impaired in CA patients compared to HCMs patients and healthy controls. These findings highlight the potential supportive role of STE in the early detection and management of the disease.

Objectives Mitral regurgitation (MR) due to complications of coronary artery disease is defined as ischemic mitral regurgitation (IMR) and, in the chronic phase after myocardial infarction (MI), it has a negative prognostic value, independently of baseline patient characteristics and degree of left ventricular (LV) dysfunction. In this context, we aimed to determine the additive prognostic role of morphological parameters, assessed by cardiac magnetic resonance (CMR), in patients with ischemic mitral regurgitation (IMR). Methods 250 patients were recruited with diagnosis of IMR, and they were divided into two groups: those with cardiac death (or appropriate ICD shocks) event at 10 years follow-up (35 patients) and those without cardiac death event (215 patients). All patients underwent CMR imaging for the assessment of left ventricular (LV) ejection fraction (EF), end-diastolic (EDV) and end-systolic volume (ESV), tenting area, tenting height, interpapillary muscles displacement and late gadolinium enhancement (LGE). Echocardiography was performed to assess MR. Results The average age of the entire sample is 64±10 years, with no significant differences between the two groups (63.2 ±10 vs 68 ±9). For what regards the echocardiographic parameters, there are no statistically significant differences in LVEDV, LVESV, SIV and PP; whereas telesystolic diameter (52 ±7 vs 42 ±9; p < 0,0001), telediastolic diameter (61 ±4 vs 56 ±7; p = 0,003), the EROA (0.3 ±0.09 vs 0.25 ±0.6; p < 0,0001) and left atrial volume (46±19 ml/m2 vs 38.7±11ml/m2 p= 0,0001) are greater in the event group. According to MRI data, patients in the event group, have significantly higher values of LVEDV (155 ±38 ml/m2 vs 111.09 ±38 ml/m2; p Conclusions Increased tenting area, assessed by CMR, has independent negative prognostic value in patients with ischemic mitral regurgitation. This finding suggests that local remodeling, which occurs in ischemic cardiomyopathy, influences the severity and the prognosis of IMR, underscoring that anatomical compromission has a preeminent role in influencing outcomes in these patients, better than functional parameters.

Introduction The treatment of heavily calcified lesions is a challenge for the interventional cardiologist. The Excimer laser coronary atherectomy (ELCA) is a plaque modification tool and the main mechanism of action seems to be the photomechanical delivering acoustic pressure with a mechanical disruption of the plaque in front of the catheter tip. Objective To evaluate the effectiveness of the contrast-enhanced ELCA by a stepwise approach, with incremental frequency/fluency in the treatment of calcified lesions in different contexts. Methods We retrospectively enrolled consecutively all patients undergoing contrast-enhanced ELCA-assisted PCIs between 2018 and 2021 at the Cardiology Unit of “Umberto I” Hospital of Syracuse (Italy). The frequency/fluency ELCA profile used with a stepwise approach were 50/50, 60/60, 70/70 and 80/80. ELCA technical success was defined as the laser catheter crossing the entire length of the target lesion established by angiographic evidence of the catheter tip in the artery distal to the stenosis. Procedural success was defined as Results We enrolled 114 patients who underwent contrast-enhanced ELCA-assisted PCI. 58% of the patients had acute coronary syndrome and 42% had chronic coronary syndrome. The left anterior descending artery was the target vessel in 42.1% of cases, the right coronary artery in 26.3%, the circumflex in 10.5%, and the left main artery in 2.3%. The main indication for ELCA was intrastent restenosis (56.2%). The median stenosis was 90% (80% – 90%). The ELCA catheter tip was 0.9 mm and 1.4 mm was employed in the 89.5% and 10.5% of cases respectively. The most used frequency/fluency profile was 70/70 (39.5%) followed by 60/60 (31.6%), 50/50 (15.8%) and 80/80 (13.2%). Use of contrast-enhanced ELCA was associated with high technical success rate (97.4%), procedural success rate (93.7%), and clinical success rate (97.1%). Conclusions In Conclusion, the contrast-enhanced ELCA seems to be a safe and effective treatment for management of calcified lesions.

An 80-year-old woman received a dual chamber pacemaker (Boston Scientific Accolade MRI DR) for pre-syncopal episodes associated with transient type 1 and 2:1 II degree atrioventricular block, recorded in 24-hour Holter monitoring. Due to residual AV conduction, pacemaker was set with RYTHMIQ algorithm, in order to reduce inappropriate ventricular pacing. A month later, the patient began to complain of severe asthenia and bradycardia (46-48 bpm). Telemetry-supported pacemaker control revealed III degree AV block with junctional escape rhythm, unmasking failing to switch of RYTHMIQ algorithm. Why did it happen? The RythmIQ algorithm has been designed to promote intrinsic conduction in Boston Scientific devices. With RythmIQ the device provides AAI(R)[i] at the lower rate limit and/or sensor indicated rate. It provides backup VVI pacing at a rate 15 bpm slower than the programmed lower rate limit, with backup VVI pacing rate limited to no slower than 30 bpm and no faster than 60 bpm. If 3 slow ventricular beats are detected in a window of 11 beats, the device automatically switches to DDD(R) mode. A slow beat is defined as a ventricular paced or ventricular sensed event that is at least 150 ms slower than the AAI(R) pacing rate. Slow ventricular beats are any of the following: - V paced event- V sensed event > AAI lower rate limit + 150 ms- V sensed event > AAI(R) sensor indicated rate + 150 ms In our case LRL was set at 50 bpm (1200 ms). During III degree AV block, patient's ventricular rate was always about 46-48 bpm, due to stable junctional escape rhythm. Thus no ventricular sensed event occurred with a V-V cycle greater than AAI lower rate limit + 150 ms, namely 1350 ms (around 44 bpm). Moreover the device didn't provide backup VVI pacing at a rate 15 bpm slower, namely 35 bpm. This two conditions impaired Rhythm IQ switching from AAI with VVI backup to DDD. The device was set manually in DDD with restoring of AV synchrony and adequate ventricular rate followed by complete resolution of symptoms. Rhythm-IQ algorithm doesn't check for AV synchrony, providing switch from AAI with VVI backup to DDD just in case of sudden and marked bradycardia. Loss of AV synchrony doesn't represent a switching criteria and moreover it is not recognized by the device. This condition could be dangerous failing to correct AV conduction disturbances in pacemaker recipient, especially if LRL was set ≤ 50 bpm. For this reason, adequate knowledge of the algorithm would indicate greater caution in using RythmIQ in certain categories of patients, such as the one in the case just described.

Background The COMPASS trial showed that rivaroxaban plus aspirin was associated with fewer adverse cardiovascular events, but more major bleeding events, as compared with aspirin alone in patients with chronic vascular disease. The clinical benefit was particularly favorable in high-risk subgroups, who are frequently undertreated because of the fear of severe bleeding events. Purpose Our aim is to evaluate objective effects of anticoagulation strategies with rivaroxaban among patients with stable cardiovascular disease. Methods We considered a population of patients with stable cardiovascular disease (coronary and/or peripheral artery disease) which has had dual antiplatelet therapy (DAPT) for 1 year. Between them we selected 65 patients (52 males and 13 females, mean age 59±7 years) with high risk of ischemic events and low bleeding risk. We used DAPT Score and HAS BLED Score to enroll patients. We stopped them DAPT and starting a dual therapy combining rivaroxaban 2,5 mg twice daily plus aspirin 100 mg. We excluded patients with high bleeding risk and heart failure with less than 35% ejection fraction. At baseline they underwent blood tests, transthoracic echocardiography, six minutes walking test (6MWT), Kansas City Cardiomyopathy Questionnaire (KCCQ) Score, evaluation of carotid– femoral pulse wave velocity (cf-PWV) and ankle brachial index (ABI). We established 3, 6 and 12 months follow-up. Results At 3 months follow-up we evaluated 41 patients (the study is going on) repeating those exams and comparing them with the baseline ones. We observed that 35% of population had reduction of cf-PWV values and in 40% of population ABI increased. 15% of patients had also improvement of more than 100 meters in 6MWT. Particularly, reduction of cf-PWV and improvement of ABI values suggest that rivaroxaban 2,5 mg twice daily may have effects on vascular protection and arterial stiffness through different mechanisms such as improvement of endothelial functionality and fibrinolytic activity at endothelium, anti-inflammatory properties and platelet-dependent thrombin generation. Nevertheless none of the patients experienced subjective clinical improvement and the KCCQ Score was unmodified. This element indicates that patients at 3 months follow-up have imperceptible changes that can be documented only by diagnostic imaging evaluation and not by anamnestic data. Finally, an important evidence was that none of the patients at 3 months follow-up reported major bleeding events. Conclusion Preliminary data suggest that the addiction of rivaroxaban 2,5 mg to aspirin exerts vascular protection and its effects can be primarly documented by evaluation of cf-PWV and ABI. The 6MWT seems to play a minor role at 3 months assessment. The KCCQ may not be useful to fill in at 3 months follow-up because patients seem not to perceive subjective clinical improvement in this phase. If confirmed on a large cohort these results may give rivaroxaban a higher relevance not only for the power but also for the immediacy of its effects. Anyway, we are continuing our check to give our data more statistical significance and to test any role of the other parameters at 6 and 12 months follow-up.

Introduction Calcified coronary plaque (CCP) represents a challenging scenario for interventional cardiologist. Stent Underexpansion (SU), often associated with CCP, can predispose to stent thrombosis and in-stent restenosis. To date, SU with heavily CCP can be addressed by means of scoring/cutting balloons, very-high/high pressure non-compliant balloons, off-label rotational/orbital atherectomy and intravascular lithotripsy (IVL). Objective In this meta-analysis we investigate the success rate of IVL for the treatment of SU due to CCP. Methods Studies and case-based experiences reporting on the use of IVL strategy for treatment of SU were included. The primary outcome was IVL strategy success, defined as adequate expansion of the underexpanded stent. Metanalysis was performed for the main focuses to calculate proportions of procedural success rates with corresponding 95% confidence intervals (CI). Random effects models weighted by inverse variance were used because of clinical heterogeneity. Results Our study included 13 studies with 354 patients. Mean age was 71.3 years (95% CI: 64.9-73.1) and 77% (95% CI: 71.2-82.4%) were male. The mean follow-up time was 2.6 months (95% CI: 1–15.3). Strategy success was seen in 88.7% (95% CI: 82.3–95.1) of patients. The mean Minimal Stent Area (MSA) was reported in 6 studies, pre-IVL value was 3.4 mm2 (95% CI: 3–3.8) and post-IVL value was 6.9 mm2 (95% CI: 6.5–7.4). The mean diameter stenosis (%) was reported in 7 studies, pre-IVL value was 69.4% (95% CI: 60.7–78.2) and post-IVL value was 14.6% (95% CI: 11.1–18). The rate of intraprocedural complications was 1.6% (95% CI: 0.3-2.9). Conclusions The “stent-through” IVL plaque modification technique is a safe tool to treat SU due to CCP, with high success rate and very low incidence of complications.

Background Dilated cardiomyopathy is one of the most common cardiomyopathies that at the onset shows a with dysfunction, commonly expressed by the reduced ejection fraction (EF) and which can lead to heart transplantation. Cardiac "laminopathies" are part of the complex set of CMD. In many cases they show a defect in myocardial electrical conduction. Mutations in the Lamina A / C genes have been associated with high arrhythmic risk and sudden cardiac death. In addition to these, there are others concerning the MYH7, TTN, MYBPC3 genes, related to the CMD phenotype and whose meaning is being defined. Objectives The project has the goal of evaluating the association of arrhythmic disorders with possible CMD phenotypes and the genetic mutations described above. Materials and Methods We studied 33 out of 100 patients screened for CMD on voluntary availability, suffering from different forms without significant coronary lesions. All of them underwent diagnostic-instrumental checks (ECG, Holter Ecg, echocardiogram and enzymatic profile) and followed for a minimum period of 18 months. At the same time at the ordinary check -up, genetic analyses were carried out through the NGS study of a panel of genes related to CMD in collaboration between the AOU G. Martino di Messina and the Bambino Gesu’ Hospital in Rome. Results On 33 patients undergoing a genetic study, variants of uncertain significance (VUS) were identified: variant c.2359 C> T (p.Arg787Cys) in the MYH7 gene reported in VarSome as probably pathogenetic in a symptomatic patient with endomyocardial biopsy CMD +; the variant c.54016G> T in heterozygosity in the TTN gene, in another case, which at the protein level determines the introduction of the premature stop codon not described in scientific literature and classified according to the ACMG guidelines as a probably pathogenic variant; finally pathogenic variant c.949G> A in heterozygosity in the LMNA gene, in a family with a history of sudden cardiac death with manifest CMD in some members with arrhythmias at follow up (ICD). and the presence of a second mutation; c.836G> C in heterozygosity in the MYBPC3 gene, in other members of the same family with better clinical course. Conclusions Our study shows that there are VUS associated with cases of CMD. Within these, the presence of mutations in the lamina gene seem to be more closely related to the incidence of arrhythmias. Therefore, further studies are necessary for a better definition of all possible VUS also to carry out a differential diagnosis in the broad spectrum of cardiomyopathies.

Background Spontaneous coronary intramural hematoma (SCIH) is a rare but underdiagnosed condition, with dynamic evolution. Clinical presentation A 45-year-old woman was admitted to the emergency department with chest pain and fever in the previous days. Markers of myocardial injury were elevated, white blood cell count and C-reactive protein were mildly elevated, whereas D-dimer, chest X-ray and ECG were normal. Transthoracic echocardiography showed inferior wall hypokinesia, so an urgent coronary angiogram was performed showing no evidence of obstructive coronary artery disease. Investigations Cardiac magnetic resonance (CMR) was performed two days later showing inferior wall ischemic pattern (Figure 1) and ECG showed changes in the inferior leads with T waves inversion. A second coronary angiogram with planned intravascular imaging was than performed and showed a critical stenosis of the mid-distal right coronary artery determining functional vessel occlusion (Figure 2). Coronary vasospasm was ruled-out after intracoronary nitrates infusion and intravascular ultrasound (IVUS) showed diffuse intramural hematoma of the ostial, proximal and mid-segment of the right coronary artery with subocclusive stenosis at the mid segment with no evidence of atherosclerosis (Figure 3). Management Considering the clinical and radiological evidence of evolving myocardial injury, conservative management was excluded, and direct stenting of the lesion was performed with IVUS guided implantation of four overlapping drug-eluting stents. Conclusion Our case highlights the dynamic and treacherous nature of spontaneous coronary intramural hematoma, causing initial symptoms of myocardial ischemia without evident coronary obstruction, and then rapidly evolving in a severe and life-threatening coronary occlusion upon hematoma expansion. Higher level diagnostic testing such as CMR and intravascular imaging were instrumental for correct diagnosis and treatment in this complex scenario. Figure 1 Figure 2 Figure 3

Background Early diagnosis of Coronary Artery Disease (CAD) plays a key role to prevent adverse cardiac events such as myocardial infarction and Left Ventricular (LV) dysfunction. Myocardial Work (MW) indices derived from echocardiographic speckle tracking data in combination with non-invasive blood pressure recordings are able to predict CAD even in the absence of impairments of standard echocardiographic parameters. Our aim was to compare the diagnostic accuracy of MW indices to predict CAD and to assess intra-observer and inter-observer variability of MW through a metanalysis. Methods Electronic databases were searched for observational studies evaluating the MW indices diagnostic accuracy for predicting CAD and intra-observer and inter-observer variability of MW indices. Pooled sensitivity, specificity, and Summary Receiver Operating Characteristic (SROC) curves were assessed. Results 5 studies enrolling 501 patients met inclusion criteria. Global Constructive Work (GCW) had the best pooled sensitivity (89%) followed by GLS (84%), Global Work Index (GWI) (82%), Global Work Efficiency (GWE) (80%) and Global Wasted Work (GWW) (75%). GWE had the best pooled specificity (78%) followed by GWI (75%), GCW (70%), GLS (68%) and GWW (61%). GCW had the best accuracy according to SROC curves, with an Area Under The Curve of 0.86 compared to 0.84 for GWI, 0.83 for GWE, 0.79 for GLS and 0.74 for GWW (Figure 1). All MW indices had an excellent intra-observer and inter-observer variability. Conclusions GCW is the best MW index proving best diagnostic accuracy in the prediction of CAD with an excellent reproducibility. Figure 1: Pooled sensitivity, pooled specificity, SROC curves and AUC of Myocardial Work indices and GLS

A male patient, 33 years old, smoker, with a 20-year history of SLE, consulted the ER for right hand fatigue. He didn't assume his medications constantly. Computed Tomography showed a fronto-parieto-occipital cerebral infarction, and the angio-CT showed a plaque in left internal carotid artery. The patient was admitted to the Stroke Unit for minor ischemic stroke. The ECG showed pathological Q waves in the anterior leads from V1 to V4 revealing a likely previous silent myocardial infarction. The echocardiogram demonstrated moderate left ventricular dysfunction with 40% EF and segmental wall motion abnormalities, namely ipoakinesia of anterior wall and apex. This findings were confirmed by cardiac MRI highliting subendocardial LGE in these areas suggesting an ischemic genesis. Due to the hemorrhagic risk related to recent cerebral ischemic event, coronary angiography was postponed a month later. The coronary angiography revealed a significant stenosis of the proximal left anterior descending artery (iFR < 0.65). Qualitative assessment of the lesion with IVUS showed a “mixed” plaque. The lesion was treated with PCI and the implant of two overlapped DES and the patient underwent dual antiplatelet therapy. Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder with heterogeneous presentation, characterised by alternating periods of flares and remission, and irreversible organ damage. The skin, joints, heart, kidneys, central nervous system and haematologic system are some of the most affected organs. Although recent data suggest that mortality decreased in patients with SLE over the last 30 years, mortality due to cardiovascular disease (CVD), usually defined as a combination of coronary, cerebrovascular and/or peripheral arterial disease, has remained high. Stroke and myocardial infarction (MI) are major CVD events that are potentially life-threatening. Lupus specific cardiovascular risk factors are believed to contribute to the high risk for MI, such as renal involvement, that has been associated with increased subclinical atherosclerosis and ischaemic heart disease, and antiphospholipid syndrome (APS), defined by venous, arterial or small vessel thrombosis and/or obstetric complications together with persistent positivity for antiphospholipid antibodies (aPL). Though several risk factors have been suggested, the exact mechanisms behind the high MI incidence in SLE remain essentially unknown. MIs in SLE are in most cases associated with coronary atherosclerosis. Subclinical atherosclerosis has been reported in many case–control studies, but a direct causal relationship between coronary artery disease (CAD) and MI in SLE has not yet been well documented. The pathogenesis of cardiovascular diseases in SLE is not fully understood. The inflammatory nature of SLE is believed to be an important factor in accelerating atherosclerosis. Systemic inflammation may lead to an abnormal lipid profile with elevated triglycerides, total cholesterol, and low-density lipoprotein cholesterol and dysfunctional high-density lipoprotein cholesterol. Additionally, promotes endothelial dysfunction and vascular injury. Our case showed the key role of an integrated imaging approach with echocardiography and cardiac MRI to confirm diagnosis of past myocardial infarction in a very young man affected by LES. IVUS played a great role to characterize the nature of the lesion, confirming the association between coronary atherosclerosis and MIs in SLE.

A 73 year-old man was admitted for syncope and sustained ventricular arrhythmia complicated by cardiogenic shock treated with electrical cardioversion and restoration of sinus rhythm. Former smoker, he suffered by arterial hypertension, hypercholesterolemia and known heart failure with reduced ejection fraction. In the 1995 the patient underwent aortic valve replacement surgery with a mechanical prosthetic valve. The patient underwent coronary angiography that showed multivessel coronary artery disease with functional occlusion of posterior interventricular artery (rehabilitated by hetero-coronary circles) and critical stenosis of the middle left anterior descending artery. In this angiographic framework, the indication was collegial revaluation considering other patient's comorbidities (chronic renal dysfunction, mitral moderate-severe regurgitation). The patient underwent ICD implantation for secondary prevention. Despite maximal medical therapy, the patient experienced new episodes of sustained VT complicated by hemodynamic instability. Hypokalemia, hypomagnesemia and hyperthyroidism were excluded as triggering factors for arrhythmias on laboratory investigations. In the following days due to persistent and symptomatic arrhythmias, configuring electrical storm, we decided to proceed with anatomical stellate ganglion block, guarantying a free interval from ventricular arrhythmia about six hours. The anesthetic has been injected at the C6 or C7 vertebral level with the Chassignac's tubercle, the cricoid cartilage, and the carotid artery serving as the anatomic landmarks to the procedure. An aspiration test must be done to avoid the suction of blood or cerebrospinal fluid, then a local anesthetic is injected, and the diffusion of the injectate is seen in real-time. Local anesthetic (lidocaine mixed with bupivacaine) is injected until the fluid spread along the paravertebral fascia to the stellate ganglion. The period free from VA allowed us to transfer the patient in another center in order to receive myocardial revascularization supported by ECMO. Left ganglion stellate block has a central role in the treatment of the refractory ventricular arrhythmias and may offer effective arrhythmia control giving time to rescue and/or other bridge therapy. In our case, it had a key role to perform an inter-hospital transfer and subsequent “rescue PCI therapy”. Thanks to Stellate ganglion block, the sinus rhythm was retained immediately, there were no ventricular tachycardia episodes for at least six hours allowing to perform myocardial revascularization supported by ECMO. No further ventricular arrhythmias occurred after revascularization, corroborating the ischemic trigger of electrical storm.

Objective Assessment of myocardial work (MW) by pressure-strain loops is a recently introduced ultrasound-based technique allowing a noninvasive estimation of left ventricular (LV) myocardial performance, in a more precise fashion than ejection fraction (LVEF) and global longitudinal strain (GLS). Early studies have shown that MW clusters, such as efficiency (MWE), global wasted work (GWW), global constructive work (GCW) and myocardial work index (MWI) are likely to impair in most patients with hypertrophic heart. These markers can be predictive of myocardial dysfunction from the early stages of the disease and a trend towards fibrosis. To date, there are only scanty information about MW analysis in patients with heart failure (HF) and preserved/mildly reduced left ventricular ejection fraction (LVEF), as in those with cardiac transthyretin amyloidosis (ATTR). This pilot study aimed at evaluating differential MW features in aTTRCA vs hypertensive patients. Methods 26 male patients, 13 affected by ATTR wild-type (mean aged 74±6 years) and 13 with hypertensive heart disease (HHD, mean aged 63±8 years), were investigated by transthoracic speckle-tracking strain ultrasound. Offline pressure-strain loop analysis was performed by a dedicated software. LV mass index (LVMI), LVEF, GLS, MWE, GWW, GCW and MWI were recognized. Results Main findings are reported in Table underneath, and the reference MW values provided by the European multi-centre NORRE study* are also displayed. As expected, ATTR patients showed greater LVMI and lower LVEF than those with HHD. MW indices were almost all impaired in ATTR patients, whereas they were in the lower range of normality in the HHD group. Noteworthy, all patients showed normal GWW values, indicative of a complex pathophysiology conveying different HF settings. Conclusions Findings from this hypothesis generating research indicate that MW is significantly impaired in ATTR compared to HHD patients, whose values, however, were in the low range of normality. Global wasted work was the sole marker to be normal in both groups, suggesting further studies still needed to shed lights on the intricate pathophysiology of myocardial function in cardiac amyloidosis.

The proband was patient A2, suffering by severe left ventricular dysfunction (EF 20%) and II degree Mobitz type 1 atrioventricular block, requiring dual chamber ICD implantation, and retinitis pigmentosa. He had three brothers A1, A4, A5 suffering also by dilated cardiomyopathy and ICD/CRTD recipients. His sister A3, his daughter B1 and the firstborn brother A1 were also affected by retinitis pigmentosa. Genetic analysis was performed in A2 by NGS of a panel of genes related to heart disease and retinitis pigmentosa. It documented the presence of a missense pathogenetic variant (class 4) of the LMNA gene in heterozygosis (c.949G>A). This variant has been described in several scientific papers as associated with cardiac impairment in patients suffering from atrioventricular block and dilated cardiomyopathy. Laminin A/C is a fundamental protein of the nuclear envelope of the cell. Germline mutations in the LMNA gene, present on chromosome 22 (1q22), encoding the A/C lamina, have been causally linked to four different diseases with 42 reported mutations: Dilated cardiomyopathy (DCM) with disease of the conduction system; Limb girdle muscular dystrophy (LGMD); Autosomal dominant variant of Emery-Dreifuss muscular dystrophy (EDMD); Autosomal dominant partial lipodystrophy. LMNA-related dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and/or reduced systolic function frequently preceded or accompanied by significant conduction system disease. Family studies suggest that conduction system disease commonly precedes the development of DCM by a few years to a decade or more. Conduction system involvement usually starts with disease of the sinus node and/or atrioventricular node that can manifest as sinus bradycardia, sinus node arrest with junctional rhythms, or heart block (commonly first-degree heart block that progresses to second- and third-degree block). The following are also common: symptomatic bradyarrhythmias requiring cardiac pacemakers, supraventricular arrhythmias including atrial flutter, atrial fibrillation, supraventricular tachycardia, and the sick sinus syndrome (i.e., tachycardia-bradycardia syndrome), ventricular arrhythmias including frequent premature ventricular contractions and ventricular tachycardia Sudden cardiac death may occur with progressive disease. Although more malignant, life-threatening arrhythmias may occur with longstanding and usually previously symptomatic DCM, sudden cardiac death can also be the presenting manifestation of LMNA-related DCM, with minimal or no left ventricular dysfunction. In the cardiological setting, the AVB associated with DCM is a reliable marker for LMNA gene molecular screening. Regarding retinitis pigmentosa, the variant in heterozygosis c538C>G was found in the RHO gene in the proband, classifiable as pathogenetic. This gene encodes a protein necessary for the function of retinal photoreceptors and pathogenic mutations have been found in 30-40% of hereditary forms of retinitis pigmentosa. In conclusion, we believe that the tests carried out confirmed the hypothesis of a hereditary form of cardiomyopathy and retinitis pigmentosa, which seem to segregate independently in the family. Both mutations can be transmitted in 50% of cases, regardless of sex. For this reason we recommended to extend genetic analysis to all the first-degree relatives (siblings and children).

Introduction Dipyridamole stress echocardiography (Dipy-stress) compared to exercise ECG, has an higher specificity in non-invasive detection of coronary artery disease (CAD). Two-dimensional strain echocardiography (2D-SE) is able to detect even minimal abnormalities of systolic function. The aim of the study was to observe changes in 2D-SE parameters during dipy-stress and to assess prognosis in a group of patients who had previously a non-diagnostic dipy-stress test result. Methods In the first phase 71 patients were enrolled and a dipy-stress test was performed. Each patient was then studied by off-line measurement of 2D-SE and coronary computed tomography angiography (CCTA), to check the presence of CAD. In the follow-up phase, an echocardiographic re-evaluation and outcome analysis during a mean follow-up of 78 months was carried out. Results In the first phase, Global Longitudinal Strain (GLS) was reduced (p < .0001) in the CCTA positive group compared to the CCTA negative group (23±3 vs 26±2 at rest; 20±3 vs 26±2 after stress). CCTA negative group and the CCTA positive group did not differ in terms of clinical features, cardiovascular risk factors, or treatments. Despite a trend in reduction for positive CCTA group (23±3 vs 20±3 at rest; 20±3 vs 19±3 after stress), no statistically significant changes were seen in the analysis of GLS rest and stress values, between baseline and follow-up in the two groups. None of the enrolled patients experimented cardiac events during follow-up. Conclusions Left ventricular GLS analysis improves the accuracy of dipy-stress echocardiography in the detection of mild CAD compared with the assessment of Wall Motion changes, particularly in those with preserved left ventricular ejection fraction. Patients may have a better mid-term prognosis thanks to close follow-up and early treatment of all cardiovascular risk factors.

We reported the cases of two young men with II degree AV block. The first one was a 17 yo asymptomatic boy, soccer player, undergoing 24 hours Holter-ECG for sporadic RVOT ventricular extrasystoles at resting ECG. During the night, an apparent Mobitz type 2 II degree AV block was observed. Detailed analysis showed: Sinusal bradycardia at 50 bpm;Absence of prolongation of P-R intervals before the pause;The pause is longer than double the basic P-P interval;Prolongation of P-P interval in the beats before the pause. The second case was also a young man suffering by atypical episodes of palpitations. The 24h Holter-ECG showed, during the night, an apparent Mobitz type 2 II degree AV block. Also in this case analysis of the tracing highlighted a) progressive slowing of sinus cycle length before the pause b) pause longer than double of sinus cycle and c) absence of prolongation of P-R intervals before the pause. Vagally mediated atrioventricular block and pseudo-Mobitz atrioventricular block. Vagally mediated AV block can have heterogeneous presentation: Wenckebach type, pseudo-Mobitz type II, 2:1, advanced-degree, complete AV block or a combination of different types of AV block and ventricular asystole. The mechanism is mediated by a vagal input, which depresses contemporarily sinus node and AV junction. The site of vagally mediated AV block is usually within the AV node. Generally, it results in a Wenckebach II degree AV block associated with sinus bradycardia, which occurs more often during the night in young/trained people. So the blocked P wave is generally preceded by Wenckebach phenomenon. However, in some patients the prolongation of the P-R interval is not present and the AV block appears abruptly. In these cases, Mobitz type II AV block may be erroneously diagnosed if sinus slowing is ignored. A differential diagnosis between true Mobitz II AV block and pseudo-Mobitz II block is essential for clinical purposes. Simultaneous slowing of the sinus rate and a pause longer than the double of the sinus cycle length indicate clearly a vagal mechanism, ruling out true Mobitz type 2 AV block, especially in young asymptomatic healthy men. In case of doubt, an electrophysiological study may be indicated.

A young 47 years old female patient was hospitalized in our department for recurrent traumatic syncopal episodes in order to undergo Head Up Tilt Test and Electrophysiology Study (EPS). Her ECG was normal and also transthoracic echocardiography didn't show pathological findings. 24 hour Holter ECG recording showed a short run of polymorphic ventricular tachycardia. Regarding familiar history her mother had died at a young age of sudden death. Head-up tilt test resulted negative for induced-syncope. During hospitalization the patient complained onset of malaise rapidly exiting in syncope: telemetry showed two pauses of 3.8 and 5.1 sec respectively, due to paroxysmal III degree atrio-ventricular block. The day after, the patient underwent electrophysiological study. During programmed ventricular stimulation from RV apex with train and V extrastimolous S1 300 S2 220 induction of syncopal ventricular fibrillation was observed, promptly treated with external DC shock. Cardiac MRI was performed showing diagnostic signs of Left Ventricular non-Compaction Cardiomyopathy. Considering the history of traumatic syncope the patient underwent dual chamber ICD implantation and was discharged. No clinical events in a 6 month follow-up. Genetical analysis was performed and we are waiting for the results. The term left ventricular non-compaction (LVNC) identifies a cardiomyopathy, characterized by intrauterine arrest of the compaction process of the ventricular myocardium during the end of the fourth week, thus leading to the development of prominent trabeculae of the left ventricle, deep intertrabecular recesses and a ventricular wall divider into two different layers of myocardium, the first compact, the other not. This nosological entity is difficult to classify (the European Society of Cardiology considers it as not classifiable among other cardiomyopathies, unlike the American Heart Association) mostly from the point of view of clinical implications, often unpredictable. In fact, we may have completely asymptomatic forms, which, according to some authors, should be considered as normal and completely benign variants, and various manifestations, in which the lack of compaction represents a morphological trait shared by phenotypically distinct forms of cardiomyopathy, such as hypertrophic, dilated and restrictive. LVNC carries an increased risk of ventricular dysfunction resulting in chronic heart failure, thromboembolic events and especially arrhythmic, often ventricular and life-threatening manifestations. A large spectrum of arrhythmias has been observed in patients with non-compact ventricles: in particular, supraventricular and ventricular tachycardias, Wolff-Parkinson-White (WPW) syndrome, but also bradyarrhythmias, which include sinus bradycardia, Sick Sinus Syndrome and various degrees of atrioventricular block, up to complete block. Ventricular tachycardias, including those that progress to ventricular fibrillation, occur in 38–47% of adult patients with LVNC, hence sudden death is often the cause of clinical presentation. Seen the features of the pathology, early diagnosis and family clinical evaluation are necessary aspects in patient management.

Transthyretin (TTR) amyloid cardiomyopathy due to mutation on TTR gene (vATTR) has extremely different features according to the type of mutation, ranging from a mild to an extensive cardiac involvement. Data about electrocardiographic findings (ECG) in vATTR are limited and not informative of genotype correlation. Aim of this study is to analyze ECG characteristics and their correlation to clinical and echocardiographic aspects in patients with vATTR cardiomyopathy, focusing on different TTR mutations. This is a multicentric, retrospective, observational study performed in six Italian referral centres for cardiac amyloidosis. We divided patients in two groups, according to the previously described phenotypic manifestations of the TTR mutation. Of 64 patients with vATTR cardiomyopathy, 23 (36%) had prevalent cardiac (PC) TTR mutations and 41 (64%) patients had a prevalent neurological (PN) TTR mutations. Patients with PC mutations were more frequently males and older, with advanced NAC staging. At baseline ECG, atrial fibrillation was more common in patients with PC, while pacemaker induced rhythm in those with PN mutations. Prevalence of atrioventricular and intraventricular blocks, pseudonecrosis pattern and low voltages were not significantly different in both groups. PQ and QRS durations were longer and voltage to mass ratio was lower in PC mutations. Different TTR mutations tend to have distinctive ECG features. The standard ECG in vATTR is extremely heterogeneous and the specific mutations are associated with distinct instrumental and clinical features. The differences between PN and PC vATTR are only partially explained by the different degree of cardiac infiltration.

Objectives Left atrial (LA) function can be investigated by advanced ultrasound speckle tracking modality, much better than in the past. Modern ultrasound technology allows attaining myocardial deformation profiles from both ventricular and atrial chambers. Each of the 3 components of LA function [reservoir, also known as peak longitudinal strain (PALS); conduit and pump] can be impaired in various chronic diseases. We previously demonstrated that PALS (reservoir) and pump function weaken in patients with cardiac transthyretin amyloidosis (ATTR) and hypertrophic cardiomyopathy (HCM). In the present study we sought to recognize LA stiffness (LAst), a relatively novel marker of atrial dysfunction, in the same clinical settings. Methods 17 patients, 9 with ATTR wild-type (wt) and 8 with non-obstructive HCM, mean aged 67±12 years, were investigated by using transthoracic color-Doppler and strain ultrasound equipment. LV mass index (LVMI), LA area index (LAAI), LV ejection fraction (LVEF), E/E’ ratio, LV global longitudinal strain (GLS), PALS and LAst were assessed in both groups. LAst was calculated by PALS/E/E’ ratio, as suggested by studies. Results LVMI and LAAI were similar in the 2 groups: 171±40 vs 161±51 g/m2.7 and 14±3 vs 16±4 cm/m2.7 in ATTRwt vs HCM, respectively (p=NS). However, patients in the former group showed poorer LV diastolic and systolic function (LVEF was 47±9 vs 58±5%, respectively, p0.65 has been reported as a predictor of adverse LA morphofunctional remodeling, both groups were considered at risk for atrial dysfunction, but mainly the former one. Conclusions Although present findings were achieved by a small patient population, LA reservoir and stiffness were impaired in patients with ATTRwt more than in those with HCM. Left atrial dysfunction may not be strictly related with LVMI or LA size, but with LV-GLS, confirming an atrio-ventricular functional interplay in cardiac amyloidosis. Further larger study is needed to corroborate present results.

Objective A 74 y/o female presented at our emergency department with syncope and head trauma. At the physical examination she was dispnoic and tachycardic. Laboratory analysis showed elevated troponin and NT-proBNP. The TTE showed a dilated and dysfunctional right ventricle, 60/60 sign, elevated PAPs with flattening of interventricular septum. CT angiography showed massive pulmonary embolism (PE) affecting both branches of the pulmonary artery. The lower extremity venous ultrasound showed a long thrombus in the left distal tract of the common femoral vein, superficial femoral vein and popliteal vein. Methods The patient was admitted to the cardiac intensive care unit. Due to her worsening respiratory condition and her moderate-high early mortality risk PE with high risk of bleeding due to recent trauma, we decided to treat her with local ultrasound-assisted thrombolysis (Ekos). This combines ultrasound fragmentation of the thrombus with in situ reduced-dose thrombolysis. Two catheters were placed in the two pulmonary arteries through two right femoral venous accesses. The Ekos catheters were left on site for 6 hours and then removed without complications. Results The treatment was immediately effective and the clinical conditions improved within 24-48 hours. The follow up TTE showed improved right ventricle function with attenuated signs of PE. CT angiography at one week showed resolution of the vascular thrombosis. Our patient was discharged in good clinical conditions and with prescription of a NOAC. The monthly follow up was normal and any complication was referred. Conclusions A local thrombolysis technique is useful in intermediate-high risk patients at elevated bleeding risk. Future studies will shed light on the comparison between these catheter directed treatments and standard of care.

Backgrounds Psoriasis is a chronic skin inflammatory disease, characterized by immune-mediated reaction and hyperproliferation of keratinocytes. It is typically associated with several comorbidities; in particular, there are numerous evidence of a link between this condition and cardiovascular (CV) disease. Nevertheless, little is known about its role as an independent cardiovascular risk factor. Purpose The aim of this longitudinal study is to evaluate the role of Psoriasis as an independent CV risk factor, to establish the relationship between severity and duration of Psoriasis and CV damage and to find reliable markers to stratify CV risk in these patients. Methods 33 patients affected by mild Psoriasis without comorbidities were enrolled in this longitudinal study and were compared with 33 healthy subjects. The severity of Psoriasis was assessed with the PASI (Psoriasis Area and Severity Index) score: a score Results A total of 66 patients was included: 33 (50%) with mild psoriasis without comorbidities and 33 (50%) healthy subjects. Comparable clinical and echocardiographic baseline characteristics were observed between the two groups, except for Global Longitudinal Strain (GLS), which was significantly lower (p=0.002) in the Psoriasis group (22.39 ± 2.28%) than in controls (24.15 ± 2.17%), and PWV, that was significantly lower (p=0.004) in controls (8.06±1.68 m/sec) than in the psoriasis group (9.23 ± 1.53 m/sec). Significant correlations between GLS, disease duration and patient age at diagnosis were found, as in coronary artery disease (CAD) and cardiomyopathies. At 2-year follow-up, no significant changes in demographic or clinical characteristics were found within the Psoriasis group. The PASI score did not change significantly, no patient needed any systemic therapy (6 needed an increase in topical drugs) and none of the patients developed any conventional cardiovascular risk factor. There were no significant differences in echocardiographic parameters and no CV events occurred. Conclusions According to our data, mild Psoriasis determines subclinical cardiac and vascular damage. However, at two-year follow-up, no CV changes in initially healthy patients were found.

Background Takotsubo syndrome (TTS) is an increasingly widespread syndrome characterized by an acute and usually transient left ventricular (LV) dysfunction. Despite its transient nature, the acute phase can be characterized by serious complications such as LV thrombosis, as occurred in this case. Case description A 93-year-old woman was admitted to our emergency department due to a recent and self-limiting episode of acute chest pain. The ECG showed ST-elevation in leads V2, V3 and V4 (Fig.1), with cardiac biomarkers elevation. Transthoracic echocardiography (TTE) revealed apical akinesia and hypokinesia of the other LV segments with a severely reduced ejection fraction (EF 35%). Emergency coronary angiography showed normal epicardial coronary vessels. So, Takotsubo cardiomyopathy was hypothesized as diagnosis. A mass suspect for a thrombus was detected into the apex on day 3, despite a mild improvement of the other segments contraction (EF 40%), and clearly confirmed with the contrast echocardiography on day 5 (Fig.2). Unexpectedly, any LV thrombus was identified with cardiac MRI study performed on day 7 (Fig.3). Meanwhile, the patient never showed neurological disorders or other signs of thromboembolic complications. Echocardiography performed on day 11, before discharge, showed a great improvement of regional wall motion with residual LV apical hypokinesia (EF 55%) and no apical masses. Discussion This case emphasizes the need of frequent echocardiographic follow up in stress-induced cardiomyopathy, not only during the akinetic phase but also during the period of wall motion recovery, in order to diagnose and treat as soon as possible a LV apical thrombosis avoiding thromboembolic complications. We hypothesized that the early anticoagulation therapy combined with the initial improvement in LV wall motion facilitated the process of thrombosis resolution. Cardiac MRI played a relevant role in the comprehensive assessment of the functional and structural LV changes; the absence of late gadolinium enhancement (LGE) can be considered as a positive prognostic factor, indicating a complete resolution without residual fibrosis. Conclusion A multimodality imaging approach, based on a frequent echocardiographic follow up combined with cardiac MRI, is fundamental for an early diagnosis and a rapid treatment of LV thrombosis Takotsubo-related.

A 38-year-old male patient (A2) was referred to our ambulatory for paroxysmal atrial fibrillation in young age and ventricular preexcitation. Echocardiographic evaluation showed left ventricle hypertrophy (localized particularly at inter-ventricular septum (SIV) and normal LV ejection fraction. He also had a positive family history of hypertrophic cardiomyopathy since the latter was already diagnosed with the maternal grandmother (M0), the mother (M1) and the two brothers (A1 and A3). His father was apparently healthy (P1- consanguineous third degree of the mother M1). Specifically, the mother (M1) was suffering from non-obstructive hypertrophic cardiomyopathy, and tachy-brady (paroxysmal atrial flutter, sinus arrest) syndrome requiring pacemaker implantation. The firstborn (A1) was affected by paroxysmal atrial fibrillation, ventricular prexcitation and mild hypertrophy of the interventricular septum (SIV). The third child (A3) had a diagnosis of hypertrophic cardiomyopathy and a history of successfully ablation of a left postero-septal accessory pathway. A3 suffered also by paroxysmal typical atrial common flutter. Genetic analysis of the proband A2 confirmed a heterozygous pathological mutation of the PRKAG2 gene. Thus, genetic analysis was extended to the other two brothers A1 and A3 and the mother. We proposed to the all three brothers electrophysiological study in order to assess arrhythmic substrate and appropriate therapy (strict FUP, PM or ICD implantation). Mutation of the PRKAG2 gene is a rare disease, classified as non-lysosomal cardiac glycogenosis with clinical onset in late adolescence or in the third decade of life and presents an autosomal dominant inheritance with complete penetrance. It is associated with cardiac arrhythmias, such as ventricular preexcitation (Wolff-Parkinson-White syndrome), sinus node disease, atrioventricular block, atrial fibrillation. Genetic analysis has a crucial role especially in the evaluation of inheritance with autosomal dominant transmission and regarding the prognostic impact, since PRKAG2 gene mutation involved a greater arrhythmic risk comparing with other subtypes of hypertrophic cardiomyopathy. Affected patients should be closely monitored to facilitate early detection of arrhythmia and conduction problems. PRKAG2 mutation should be considered in patients with LVH who develop AF or require permanent pacemakers at a young age. Early recognition is important to allow prompt identification and appropriate management of genetic carriers.

Purpose We described the incidence and ECG factors associated with de novo atrial fibrillation (AF) in patients diagnosed with wild-type transthyretin cardiac amyloidosis (ATTRwt-CA) to drive tailored arrhythmia screening. Background Data on the incidence rate and factors associated with de novo AF in patients with ATTRwt CA is limited. Methods Multicenter, retrospective, observational cohort study performed in six referral centers for CA. All consecutive patients diagnosed with ATTRwt-CA between 2004 and 2020 with >1-year follow up (FU) were enrolled in the study and were divided into three groups according to presence of AF: (1)patients with ‘known AF’; (2)patients in ‘sinus rhythm’ and (3)patients developing ‘de novo AF’ during FU. Incidence and factors associated with AF in patients with ATTRwt were the primary outcomes. Results Overall, 266 patients were followed for a median of 469 days: 148 (56%) with known AF, 84 (31.6%) with sinus rhythm, and 34 (12.8%) with de novo AF. Age and gender were similarly distributed. At multivariable analysis, PR (Hazard Ratio[HR]: 1.008 95% C.I. 1.001-1.016), QRS (HR: 1.022 95% C.I. 1.002-1.043) and left atrial dilatation>50mm (HR: 3.429 95% C.I. 1.565-7.329) were associated with de novo AF at FU. Patients presenting with at least two risk factors (PR>200ms, QRS>120ms or LAD>50mm) had a higher risk of developing de novo AF compared to patients with no risk factors (HR 14.918 95% C.I. 3.242-31.646). Conclusions Incidence of de novo AF in patients with ATTRwt is 20.7%/year. Longer PR and QRS duration and left atrial dilation are associated with arrhythmia onset.

Introduction Overweight and obesity are a health problem of growing significance all over the world with increasing prevalence in both developed and developing countries. Numerous studies have demonstrated a relationship between obesity and cardiovascular diseases, underscoring the need to early treat this pathological condition. Overweight and obesity cause structural and functional changes on left ventricular (LV) and left atrial (LA) performance, which lead to heart failure. In this context we aimed to evaluate the impact of BMI on myocardial work parameters and left atrial strain to early detect LV and LA performance changes in overweight patients. Methods 80 young individuals were prospectively enrolled, distinguishing between overweight patients with BMI greater than or equal to 25 to 29.9 kg/m^2 (n= 36; 45±11 years) and normal weight patients with BMI greater than or equal to 18.5 to 24.9 kg/m^2 (n=44; 43±9 years). All patients underwent transthoracic echocardiogram to calculate global longitudinal strain (GLS), global work index (GWI), global work efficiency (GWE), global wasted work (GWW), global constructive work (GCW) and left atrial strain. Results Overweight patients have higher BSA (1,9±0,16 vs 1,6±0,17 mq; p Conclusions Overweight induces early LV and LA performance changes that can be precociously detected by myocardial work and left atrial strain, in order to better characterize individual cardiovascular risk profile.

Introduction Ventricular–arterial coupling (VAC) is considered as the cornerstone of the functional interaction between ventricles and the arterial system. VAC is commonly assessed as arterial elastance (Ea) to ventricular end-systolic elastance (Ees) ratio and it has independent prognostic value in hypertension, so it may be used to refine risk stratification and monitor therapeutic interventions in hypertensive patients. Therefore, VAC may be better characterized by the measurement of each component of this ratio through novel and more sensitive markers of myocardial function (e.g. global longitudinal strain and myocardial work parameters) and arterial function (e.g. pulse wave velocity). In this context, we aim to investigate whether new coupling indices may be able to identify left ventricular (LV) performance changes induced by blood pressure (BP) overload earlier than conventional ones. Methods 50 young individuals were prospectively enrolled, distinguishing between newly diagnosed untreated hypertensives (n= 25; 40±8 years) and controls (n=25; 39±9 years), matched for age and gender. All patients underwent at the same time carotid-femoral pulse wave velocity (PWV) measurement through an applanation tonometer (SphygmoCor® XCEL) and a transthoracic echocardiogram to calculate Ea/Ees ratio, assessed as end-systolic volume to stroke volume ratio (ESV/SV), global longitudinal strain (GLS) and myocardial work efficiency (GWE). Two new indices of VAC were derived: PWV/GLS, previously validated and PWV/GWE, still unknown. Results Ea/Ees ratio was lower in hypertensives (0,48±0,17) than in controls (0,57±0,14) but without any significant difference (p=0.18), whereas PWV/GLS was significantly higher in hypertensives than in controls (0,45±0,19 vs 0,35 ± 0,09 m/sec%; p= 0,02). PWV/GLS ratio correlated to Ea/Ees (r= 0,52; p < 0,01), diastolic dysfunction degree (r=-0,59; p Conclusions Innovative indices of ventricular-arterial coupling could be more sensitive to investigate the impact of hypertension on LV performance.

Introduction Clinically relevant pulmonary embolism (PE) related to pacemaker leads is reported in up to 3.5% of cases of implantations. We reported a particular case of acute massive PE in a patient bearer of a Cardiac Resynchronization Therapy-Defibrillator (CRT-D). Case presentation A 49-year-old man presented to our ER reporting dyspnea and localized pain to the left hemithorax. Past medical history included HFrEF due to idiopathic dilated cardiomyopathy complicated by apical thrombosis, CRT-D, Charcot-Marie-Tooth syndrome, dyslipidemia, and a hepatic nodule undergoing diagnosis. Recently, he reported COVID-19 and successive pleuropneumonia requiring hospitalization. At home, he was taking Acenocoumarin, Sacubitril/Valsartan 97/103mg bid, Carvedilol 6.25mg bid, Digoxin 0.0625mg, and Canrenon 50mg with questionable adherence. On physical examination, he was pyretic, mildly hypotensive and hypoxemic. An ECG showed atrio-guided biventricular stimulation at 110 bpm. A transthoracic echocardiogram (TTE) revealed biventricular disfunction and dilation, mitral and tricuspid regurgitation, PAPs 60 mmHg, and a thrombotic formation in the left ventricle apex. Blood tests found elevated D-Dimer and infection markers, INR 1.1. A CT angiography confirmed a bilateral acute massive PE associated with lung consolidations and left pleural effusion. We excluded deep vein thrombosis in the lower limbs. Patient was admitted to CCU and treated with intravenous heparin, antibiotics, and support therapy. After one week, we performed a transesophageal echocardiogram that confirmed the previous TTE except for a minor PAPs and unknown thrombotic formations on the atrial side of the tricuspid valve, adhering to CRT-D leads, pedunculated, highly mobile, the largest with an area of 1.9cm2. Cardiac surgery wasn't indicated; we excluded thrombophilia and thoracic cancer. Patient is still hospitalized, asymptomatic and with a precarious cardiovascular status. Discussion The incidence of asymptomatic clot adhering to cardiac device's leads found by echocardiography is 1.4%, and thromboembolic complications are even rarer, especially after years from the implant. In our patient, the right atrium thrombosis is probably the cause of PE, and possible precipitating factors were pneumonia or unknown hepatic neoplasm. In the diagnostic workup, TTE probably wasn't sensitive enough to detect those thrombi. Conclusions We presented a particular case of PE in a relatively young patient affected with HFrEF. Even if thrombosis related to pacemaker leads is rare, it should be considered as a possible cause of PE in a patient bearer of a cardiac stimulating device.

Introduction The anomalous connection of the left circumflex artery (LCx) to the right coronary artery (RCA) or sinus is the most frequent coronary artery (CA) anomaly. Among them, only those with an interarterial course are regarded as hidden conditions at risk of myocardial ischemia (MI) and sudden cardiac death (SCD). We report an uncommon of anomalous origin of LCx from the right sinus of Valsalva and a retroaortic path causing MI. Case presentation A 61-year-old man presented to the emergency department complaining palpitations and chest discomfort for an hour. He only had history of hypertension. Physical examination was unremarkable. The ECG demonstrated atrial flutter with a 2:1 conduction ratio and a ventricular rate of 157 bpm and ST segment depression in leads V4-6. Transthoracic echocardiography did not reveal segmental kinetic anomalies but a five-chamber apical view showed a “RAC sign”, typical of anomalous retroaortic course of the left coronary artery. The patient was treated with intravenous infusion of amiodarone. He restored sinus rhythm and symptoms regressed completely, but the ECG taken after conversion showed flattened T waves in leads V5-6 and negative T waves in I and aVL. Cardiac enzymes had transient increase. After the acute episode ended the patient underwent cardiac computed tomography angiography (CTA) with evidence of anomalous origin of LCx from the right sinus with a retroaortic course. A coronary angiography excluded obstructive atherosclerotic coronary lesions. Nuclear myocardial perfusion imaging revealed reversible small subsegmental perfusion defects in mid inferolateral wall and apical lateral wall. We established a medical treatment with beta-blocker. Discussion Our patient had anomalous connection of the LCx branch to the right sinus of Valsalva with a retroaortic course. Although this anomaly is usually considered benign, cases of association with SCD and MI have been reported. The factor responsible for this pathogenicity could be high orifice, ostial stenosis, slit-like/fish-mouth-shaped orifice and acute-angle take-off. As cardiac CTA did not reveal any of these characteristics, we hypothesized that the increased cardiac output and expansion of the great vessels during tachycardia could cause compression of the retroaortic segment or angling at its origin and generate ischemia. Repolarization abnormalities at ECG are well documented during supraventricular tachycardia as a response to pacing-induced stress. These changes are usually diffused and disappear after conversion to sinus rhythm. In this case they appeared hours later, accompanied by cardiac enzyme buildup. As the epicardial coronary arteries did not show any pathology, we suggest that the patient had transient ischemia due to LCx anomaly. We confirmed it by myocardial perfusion imaging. As for the management of this anomaly in adults, surgery is recommended as class IC in patients with typical angina symptoms who present with evidence of stress-induced myocardial ischemia in a matching territory or high-risk anatomy. Our patient has never had clear manifestations of angina. All these elements together with the age of our patient motivated us to use a conservative approach. Conclusions We report a case of anomalous origin of LCx from right sinus of Valsalva causing transient myocardial ischemia in a patient that has always been asymptomatic. This anomaly has been and continues to be considered benign, nevertheless we suggest to judge the clinical significance of this kind of CA anomaly on a case-by-case integrated approach.

Background Anderson-Fabry Disease (AFD, OMIM 301500) is a rare X-linked lysosomal storage disorder caused by GLA gene mutation resulting in a deficit or absent activity of the α-galactosidase A enzyme (α-Gal A). This deficiency involves the impossibility of cleavage of glycophospholipids, resulting in an intralisosomal accumulation of them in different tissues. Due to an incidence of 1 in 80000, AFD is considered the second most common glycosphingolipid storage disorder after Gaucher disease. Cardiac manifestations include left ventricular hypertrophy (LVH) and arrhythmias. The rate of pacemaker implantation (PMI) in AFD has been described to be 25 times higher than in the general population, and the requirement of PMI has been reported to be as high as 8% in some AFD series. In this context, the presence of conduction abnormalities in young patients may suggest an undiagnosed AFD.1 Therefore, early diagnosis is important in AFD because appropriate therapies seem to be more effective when initiated promptly. Purpose Our aim is to detect AFD among relatively patients with unexplained conduction disturbances requiring PMI, not submitted to newborn screening. Methods Among 650 patients afferent to our ambulatory for routinary pacemaker follow-up, we considered a selected population with diagnosis of sinus node dysfunction or atrioventricular block (confirmed by atrial pacing rate ≥ 60% or ventricular pacing percentage ≥ 80%) and an age, at the time of PMI, ranging between ≥40 and ≤70 years old. The exclusion criteria were: patients with previous myocardial infarction; patient whit known cardiac disease (such as hypertrophic cardiomyopathy); patients who underwent cardiac surgery and patients with extracardiac disease with cardiac involvement such as autoimmune disorders. For this cohort of 26 adult patients (13 males; 13 females; mean age 63 ± 7 years) a prospective screening study for AFD was performed. After clinical evaluation, transthoracic echocardiography (analyzing signs of left ventricular hypertrophy) and pacemaker check, a dried blood spot sampled in filter paper was analyzed. This filter paper assay was performed in male patients in order to evaluate the α-Galactosidase A enzyme activity through the detection of Fabry disease biomarkers; only in the case of abnormal values, genetic investigation was performed. In female patients, the analysis was exclusively genetic. Results The analyses revealed 58% (15/26) of patients affected by mild LVH (IVS diameter ranging from 11 to 15 mm). No patient had severe LVH (IVS diameter ≥15 mm) or moderate-severe renal dysfunction (more than stage 3B, GFR below than 30-44 mL/min). In the restrict cohort considered, we found one 69 yo female patient with heterozygosis GLA pathogenic mutation, NM_000169.2:c.638A>C p.(Lys213Thr). She had normal value of liso-Gb3 1,1 ng/ml (n.v. ≤ 1,8 ng/ml). She had mild LVH (IVS diameter 12 mm) and no renal dysfunction. Familiar screening was programmed. Conclusion In a highly selected sample of relatively young patients with conduction disturbances requiring pacemaker implantation, a female patient with genetic mutation causing AFD has been identified. Therefore, it seems that screening efforts should be increased in this patient population. 1 Hemelsoet D, De Keyser J, Van Heuverswyn F et al. Screening for Fabry Disease in Male Patients With Arrhythmia Requiring a Pacemaker or an Implantable Cardioverter-Defibrillator. Circulation. 2021 Feb 23;143(8):872-874. doi: 10.1161/CIRCULATIONAHA.120.051400.

Introduction Hemodynamic interaction between left ventricular (LV) and arterial system is a key determinant of cardiovascular performance. The non-invasive carotid-femoral Pulse Wave Velocity (PWV), obtained with applanation tonometry, is considered the most precise way of estimating arterial stiffness. The LV myocardial work (MW), based on non-invasive LV pressure-strain loop (PSL), is a new promising tool to assess LV function. Aims The aim of the study was to evaluate the correlation between PWV and MW parameters in a population of non-hypertensive and newly diagnosed untreated hypertensive people. Materials and methods 80 people (M=48), divided in hypertensive (group 1 n=40, 45±10 years) and non-hypertensive (group 2 n=40, 40±12 years), were prospectively enrolled. All underwent conventional transthoracic echocardiogram and at the same day carotid femoral PWV was calculated with applanation tonometry (SphygmoCor® XCEL). MW parameters were obtained using 2D Speckle-tracking technique. Results Comparing the two groups, PWV and Global Work Wasted (GWW) were significantly higher in the hypertensives group (9,73±2,4 vs 7,79±1,1; p=0,001 and 146±50 vs 85±27, p=0,001), as shown in Figure 1, whereas Global Work Efficiency (GWE) and Global Work Constructive (GWC) were significantly lower (93,6±2,5 vs 95,6±1,2, p=0,001 and 2410±122 vs 2167±65, p=0,002). We found a linear and positive correlation of PWV with GWW (r=0,271, p=0,016), as seen in Figure 2, and a linear and negative correlation of PWV with GWE (r=-0,282, p=0,012). Conclusion This study highlights the role of PWV and MW evaluation in hypertensives. Higher PWV and GWW could be considered as red flags of myocardial damage suggesting the need of an early appropriate antihypertensive therapy.

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Hypertrophic cardiomyopathy (HCM) is a genetic heart disease characterized by the thickening of the heart muscle, which can lead to symptoms such as chest pain, shortness of breath, and an increased risk of sudden cardiac death. However, not all patients with HCM have the same underlying genetic mutations, and some have conditions that resemble HCM but have different genetic or pathophysiological mechanisms, referred to as phenocopies. Cardiac magnetic resonance (CMR) imaging has emerged as a powerful tool for the non-invasive assessment of HCM and its phenocopies. CMR can accurately quantify the extent and distribution of hypertrophy, assess the presence and severity of myocardial fibrosis, and detect associated abnormalities. In the context of phenocopies, CMR can aid in the differentiation between HCM and other diseases that present with HCM-like features, such as cardiac amyloidosis (CA), Anderson–Fabry disease (AFD), and mitochondrial cardiomyopathies. CMR can provide important diagnostic and prognostic information that can guide clinical decision-making and management strategies. This review aims to describe the available evidence of the role of CMR in the assessment of hypertrophic phenotype and its diagnostic and prognostic implications.

Aims The incidence and risk factors of pacemaker (PM) implantation in patients with cardiac amyloidosis (CA) are largely unexplored. We sought to characterize the trends in the incidence of permanent PM and to identify baseline predictors of future PM implantation in light-chain (AL) and transthyretin (ATTR) CA. Methods and results Consecutive patients with AL and ATTR-CA diagnosed at participating centres (2017-2020) were included. Clinical data recorded within +/- 1 month from diagnosis were collected from electronic medical records. The primary study outcome was the need for clinically-indicated PM implantation. Patients with PM (n = 41) and/or permanent defibrillator in situ (n = 13) at CA diagnosis were excluded. The study population consisted of 405 patients: 29.4% AL, 14.6% variant ATTR and 56% wild-type ATTR; 82.5% were male, median age 76 years. During a median follow-up of 33 months (interquartile range 21-46), 36 (8.9%) patients experienced the primary outcome: 10 AL-CA, 2 variant ATTR-CA and 24 wild-type ATTR-CA (p = 0.08 at time-to-event analysis). At multivariable analysis, history of atrial fibrillation (hazard ratio [HR] 3.80, p = 0.002), PR interval (HR 1.013, p = 0.002) and QRS >120 ms (HR 4.7, p = 0.001) on baseline electrocardiogram were independently associated with PM implantation. The absence of these three factors had a negative predictive value of 92% with an area under the curve of 91.8% at 6 months. Conclusion In a large cohort of AL and ATTR-CA patients, 8.9% received a PM within 3 years after diagnosis. History of atrial fibrillation, PR >200 ms and QRS >120 ms predicted future PM implantation.

Aims Bicuspid aortic valve (BAV) may be complicated by aortic aneurysms and dissection. This study aimed to evaluate the prognostic efficacy of markers from cardiac imaging, as well as genetic and new biomarkers, to early predict aortic complications. Methods and results We re-evaluated after a mean time of 48 ± 11 months 47 BAV patients who had undergone previous echocardiography for evaluation of aortic stiffness and 2D aortic longitudinal strain (LS) (by speckle-tracking analysis), and who had given a blood sample for the assessment of a single-nucleotide polymorphism of elastin gene (ELN rs2 071307) and quantification of elastin soluble fragments (ESF). Surgical treatment of aortic aneurysm/dissection was the primary endpoint, and an aortic dimension increase (of one or more aortic segments) ≥1 mm/year was the secondary endpoint. Nine patients underwent surgical treatment of ascending aorta (AA) aneurysms. Out of the 38 patients who did not need surgical intervention, 16 showed an increase of aortic root and/or AA dimension ≥1 mm/year. At multivariate Cox regression analysis, an impaired AA LS was an independent predictor of aortic surgery [P = 0.04; hazard ratio (HR) 0.961; 95% confidence interval (CI) 0.924–0.984] and aortic dilatation (P = 0.007; HR 0.960; 95% CI 0.932–0.989). An increased quantity of ESF was correlated (P = 0.015) with the primary endpoint at univariate Cox regression analysis but it did not keep statistical significance at multivariate analysis. Conclusion In BAV patients, impairment of elastic properties of the AA, as assessed by 2D LS, is an effective predictor of aortic complications.