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Little is known about prevalence and predictors of myocardial infarction with non-obstructive coronary arteries (MINOCA) in Fabry disease (FD) and hypertrophic cardiomyopathy (HCM). We assessed and compared the prevalence and predictors of MINOCA in a large cohort of HCM and FD patients.In this multicenter, retrospective study we enrolled 2870 adult patients with HCM and 267 with FD. The only exclusion criterion was documented obstructive coronary artery disease. MINOCA was defined according to guidelines. For each patient we collected clinical, ECG and echocardiographic data recorded at initial evaluation.Overall, 36 patients had MINOCA during a follow-up period of 4.5 ± 11.2 years. MINOCA occurred in 16 patients with HCM (0.5%) and 20 patients with FD (7.5%; p lt; 0.001). The difference between the 2 groups was highly significant, also after adjustment for the main clinical, ECG and echocardiographic variables (OR 6.12; 95%CI 2.80-13.3; p lt; 0.001). In the FD population MINOCA occurred in 17 out of 96 patients with left ventricle hypertrophy (LVH, 17.7%) and in 3 out of 171 patients without LVH (1.7%; OR 12.0; 95%CI 3.43-42.3; p lt; 0.001). At multivariable analysis, voltage criteria for LVH at ECG (OR 7.3; 95%CI 1.93-27.7; p = 0.003) and maximal LV wall thickness at echocardiography (OR 1.15; 95%CI 1.05-1.27; p = 0.002) maintained an independent association with MINOCA. No major significant differences were found in clinical, ECG and echocardiographic findings between HCM patients with or without MINOCA.MINOCA was rare in HCM patients, and 6-fold more frequent in FD patients. MINOCA may be considered a red flag for FD and aid in the differential diagnosis from HCM.

Several treatments have demonstrated safety and effectiveness in the treatment of patients with hypertrophic cardiomyopathy; however, no drug has been shown to modify the natural history of the disease or to decrease maximal wall thickness. Improvement in our knowledge of the physiopathology of the disease has permitted the development of new therapeutical approaches, including sarcomere modulators and gene therapy. A sarcomere modulator - mavacamten - has been shown to improve exercise capacity, left ventricular outflow tract obstruction, New York Heart Association functional class and health status in a phase 3 trial. Gene therapy - although still far from human experimentation - also has promising characteristics that may radically revolutionize the treatment of hypertrophic cardiomyopathy in the future. This therapy is currently approved for the treatment of select haematological malignancies, inherited retinal dystrophy and spinal muscular atrophy, and could potentially correct the genetic alterations of the most frequent sarcomeric forms of hypertrophic cardiomyopathy. This review provides an overview of current conventional therapies for the management of patients with hypertrophic cardiomyopathy, discusses emerging therapeutic approaches and presents future perspectives.

Aims: To evaluate the role of bisoprolol to control symptoms and left ventricular outflow tract obstruction (LVOTO) in a consecutive cohort of adults with hypertrophic cardiomyopathy (HCM). Methods and results: In this retrospective study, patients with HCM with an LVOT gradient ≥50 mmHg after Valsalva manoeuvre and New York Heart Association (NYHA) class II-III symptoms were assigned to receive bisoprolol (starting at 1.25 mg daily). The initial dose was increased every two weeks to achieve the target in LVOT gradient

Background: This study sought to describe the characteristics and the natural course of left ventricular hypertrophy (LVH) in a well-characterized consecutive cohort of infants of diabetic mothers (IDMs). Methods: Sixty consecutive IDMs with LVH have been retrospectively identified and enrolled in the study. All IDMs were evaluated at baseline and every 6 months until LV wall thickness regression, defined as the decrease of wall thickness measurement into the normal reference range for cardiac parameters (z-score > −2 and < 2). A comprehensive assessment was performed in those patients with diagnostic markers suggestive of a different cause and/or without significant reduction of the LVH during follow-up. Results: At 1-year follow-up, all IDMs showed a significant reduction of maximal wall thickness MWT (6.00 mm [IQR 5.00–712] vs. 5.50 mm [IQR 5.00–6.00], p-value

"Sudden unexplained death (SUD) is a tragic event for both the family and community, particularly when it occurs in young individuals. Sudden cardiac death (SCD) represents the leading form of SUD and is defined as an unexpected event without an obvious extracardiac cause, occurring within 1 hour after the onset of symptoms. In children, the main causes of SCD are inherited cardiac disorders, whereas coronary artery diseases (congenital or acquired), congenital heart diseases, and myocarditis are rare. The present review examines the current state of knowledge regarding SCD in children, discussing the epidemiology, clinical causes, and prevention strategies."

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a homozygous GAA triplet repeat expansion in the frataxin gene. Cardiac involvement, usually manifesting as hypertrophic cardiomyopathy, can range from asymptomatic cases to severe cardiomyopathy with progressive deterioration of the left ventricular ejection fraction and chronic heart failure. The management of cardiac involvement is directed to prevent disease progression and cardiovascular complications. However, direct-disease therapies are not currently available for FRDA. The present review aims to describe the current state of knowledge regarding cardiovascular involvement of FRDA, focusing on clinical-instrumental features and management of cardiac manifestation.

Fabry disease (FD, OMIM 301500) is an X-linked lysosomal storage disease caused by pathogenic variants in the GLA gene. Cardiac involvement is common in FD and is responsible for impaired quality of life and premature death. The classic cardiac involvement is a nonobstructive form of hypertrophic cardiomyopathy, usually manifesting as concentric left ventricular hypertrophy, with subsequent arrhythmogenic intramural fibrosis. Treatment of patients with FD should be directed to prevent the disease progression to irreversible organ damage and organ failure. The aim of this review is to describe the current state of knowledge regarding cardiovascular involvement in FD, focusing on clinical and instrumental features, cardiovascular management, and targeted therapy.

Heart failure (HF) is an important health care issue in children because of its considerable morbidity and mortality. Advanced HF encompasses patients who remained symptomatic despite optimal medical treatment and includes patients who require special management, such as continuous inotropic therapy, mechanical circulatory support, or heart transplantation (HT). HT is the gold standard for children with advanced HF; nonetheless, the number of suitable donors has not increased for decades, leading to prolonged waitlist times and increased mortality rates. Therefore, the role of pediatric mechanic circulatory support has been assessed as an alternative treatment in patients in whom heart transplant could not be performed. The authors discuss the epidemiology, causes, pathophysiology, clinical manifestation, medical treatment, device therapy, and HT in pediatric HF, and a particular emphasis was posed on patients with advanced HF.

Cardiac resynchronization therapy (CRT) is an established treatment of patients with medically refractory, mild-to-severe systolic heart failure (HF), impaired left ventricular function, and wide QRS complex. The pathologic activation sequence observed in patients with abnormal QRS duration and morphology results in a dyssynchronous ventricular activation and contraction leading to cardiac remodeling, worsening systolic and diastolic function, and progressive HF. In this article, the authors aim to explore the current CRT literature, focusing their attentions on the promising innovation in this field.

Introduction: We sought to determine prevalence and predictive accuracy of clinical markers (red flags, RF), known to be associated with specific systemic disease in a consecutive cohort of patients with hypertrophic cardiomyopathy (HCM). Methods: We studied 129 consecutive patients (23.7 ± 20.9 years, range 0–74 years; male/female 68%/32%). Pre-specified RF were categorized into five domains: family history; signs/symptoms; electrocardiography; imaging; and laboratory. Sensitivity (Se), specificity (Sp), negative predictive value (NPV), positive predictive value (PPV), and predictive accuracy of RF were analyzed in the genotyped population. Results: In the overall cohort of 129 patients, 169 RF were identified in 62 patients (48%). Prevalence of RF was higher in infants (78%) and in adults >55 years old (58%). Following targeted genetic and clinical evaluation, 94 patients (74%) had a definite diagnosis (sarcomeric HCM or specific causes of HCM). We observed 14 RF in 13 patients (21%) with sarcomeric gene disease, 129 RF in 34 patients (97%) with other specific causes of HCM, and 26 RF in 15 patients (45%) with idiopathic HCM (p < 0.0001). Non-sarcomeric causes of HCM were the most prevalent in ages 55yo. Se, Sp, PPV, NPV and PA of RF were 97%, 70%, 55%, 98% and 77%, respectively. Single and clinical combination of RF (clusters) had an high specificity, NPV and predictive accuracy for the specific etiologies (syndromes/metabolic/infiltrative disorders associated with HCM). Conclusions: An extensive diagnostic work up, focused on analysis of specific diagnostic RF in patients with unexplained LVH facilitates a clinical diagnosis in 74% of patients with HCM.

ObjectivesTo evaluate the role of the ECG in the differential diagnosis between Anderson-Fabry disease (AFD) and hypertrophic cardiomyopathy (HCM).MethodsIn this multicentre retrospective study, 111 AFD patients with left ventricular hypertrophy were compared with 111 patients with HCM, matched for sex, age and maximal wall thickness by propensity score. Independent ECG predictors of AFD were identified by multivariate analysis, and a multiparametric ECG score-based algorithm for differential diagnosis was developed.ResultsShort PR interval, prolonged QRS duration, right bundle branch block (RBBB), R in augmented vector left (aVL) ≥1.1 mV and inferior ST depression independently predicted AFD diagnosis. A point-by-point ECG score was then derived with the following diagnostic performances: c-statistic 0.80 (95% CI 0.74 to 0.86) for discrimination, the Hosmel-Lemeshow χ2 6.14 (p=0.189) for calibration, sensitivity 69%, specificity 84%, positive predictive value 82% and negative predictive value 72%. After bootstrap resampling, the mean optimism was 0.025, and the internal validated c-statistic for the score was 0.78.ConclusionsStandard ECG can help to differentiate AFD from HCM while investigating unexplained left ventricular hypertrophy. Short PR interval, prolonged QRS duration, RBBB, R in aVL ≥1.1 mV and inferior ST depression independently predicted AFD. Their systematic evaluation and the integration in a multiparametric ECG score can support AFD diagnosis.

Cardiac amyloidosis is an infiltrative disorder caused by transthyretin or immunoglobulin free light-chain deposition, which determines clinical disease with similar phenotype but different time course, prognosis and therapy. Multimodality imaging is the cornerstone for disease diagnosis and management. Multimodality imaging has revolutionized the approach to the disease favoring its awareness and simplifying its diagnosis, especially in ATTR cardiac amyloidosis. This describes the different imaging tools, from the traditional to the more novel ones, and highlights the different approach in each different setting (prognosis, subtyping, prognosis, monitoring disease progression, and response to therapy).

Aims This study aimed to validate the increased wall thickness (IWT) score, a multiparametric echocardiographic score to facilitate diagnosis of cardiac amyloidosis (CA), in an independent population of patients with increased LV wall thickness suspicious for CA. Methods and results Between January 2019 and December 2020, 152 consecutive patients with increased LV wall thickness suspicious for CA were included. For all patient, the multiparametric echocardiographic score (IWT score) was calculated. To validate the diagnostic accuracy of an IWT score ≥8 to predict the diagnosis of CA, sensibility (Se), specificity (Sp), positive predictive value (PPV), negative predictive value (NPV), and predictive accuracy (PA) were calculated. Among the 152 patients included in the study, 50 (33%) were diagnosed as CA, 25 (16%) had severe aortic stenosis, 25 (16%) had hypertensive remodelling, and 52 (34%) had hypertrophic cardiomyopathy. Among the 50 and 102 patients with and without CA, 19 (38%) and 1 (1%) showed an IWT score ≥8, respectively. Overall, the diagnostic accuracy of an IWT score ≥8 for the diagnosis of CA in our population was the following: Se 38% (95% CI: 25–53%); Sp 99% (95% CI: 95–100%); PPV 95% (95% CI: 72–99%); NPV 77% (95% CI: 73–80%); PA 79% (95% CI: 72–85%). Conclusions This study reports the first external validation of the IWT score for the diagnosis of CA in patients with increased LV wall thickness. A score ≥8 showed a high Sp, PPV and PA, suggesting that the IWT score can be used to identify CA patients in those with increased LV wall thickness.

Aims To evaluate to role of bisoprolol to control symptoms and left ventricular outflow tract obstruction (LVOTO) in a consecutive cohort of adults with hypertrophic cardiomyopathy (HCM). Methods and results In this retrospective study, patients with HCM with an LVOT gradient ≥50mmHg after Valsalva manoeuvre and New York Heart Association (NYHA) class II-III symptoms were assigned to receive bisoprolol (starting at 1.25 mg daily). The initial dose was increased every two weeks to achieve the target in LVOT gradient Conclusions Treatment with bisoprolol was well-tolerated and effective in relieving obstruction and improving symptoms in a significant proportion of patients with symptomatic obstructive HCM.

Aims: Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed to describe the aetiology, phenotype, and outcomes of infantile HCM in a well-characterized multicentre European cohort. Methods and results: Of 301 children diagnosed with infantile HCM between 1987 and 2019 presenting to 17 European centres [male n=187 (62.1%)], underlying aetiology was non-syndromic (n=138, 45.6%), RASopathy (n=101, 33.6%), or inborn error of metabolism (IEM) (n=49, 16.3%). The most common reasons for presentation were symptoms (n=77, 29.3%), which were more prevalent in those with syndromic disease (n=62, 61.4%, P&nbsp

Aims This study sought to describe the characteristics and the natural course of left ventricular hypertrophy (LVH) in a well-characterized consecutive cohort of infants of diabetic mothers (IDMs). Methods and results Sixty consecutive IDMs with LVH have been retrospectively identified and enrolled in the study. All IDMs were evaluated at baseline and every 6 months until LV wall thickness regression, defined as the decrease of wall thickness measurement into the normal reference range for cardiac parameters (z-score > −2 and Conclusions LVH in IDMs represents a benign condition with complete regression during the first years of life. In those patients without LV wall thickness regression, combined with clinical markers suggesting a specific disease, a complete work-up is required for a definite diagnosis.

Transthyretin cardiac amyloidosis (ATTR-CA) is a systemic disorder resulting from the extracellular deposition of amyloid fibrils of misfolded transthyretin protein in the heart. ATTR-CA is a life-threatening disease, which can be caused by progressive deposition of wild type transthyretin (wtATTR) or by aggregation of an inherited mutated variant of transthyretin (mATTR). mATTR Is a rare condition transmitted in an autosomal dominant manner with incomplete penetrance, causing heterogenous phenotypes which can range from predominant neuropathic involvement, predominant cardiomyopathy, or mixed. Diagnosis of ATTR-CA is complex and requires integration of different imaging tools (echocardiography, bone scintigraphy, magnetic resonance) with genetics, clinical signs, laboratory tests, and histology. In recent years, new therapeutic agents have shown good efficacy and impact on survival and quality of life in this subset of patients, nevertheless patients affected by ATTR-CA may still carry an unfavorable prognosis, thus highlighting the need for new therapies. This review aims to assess cardiovascular involvement, diagnosis, and management of patients affected by ATTR-CA.

Background Right ventricular (RV) dysfunction in cardiomyopathies is a consequence of chronic overload (i.e. aortic stenosis) or direct involvement of systemic disorders (i.e. cardiac amyloidosis, CA). The Tricuspid Annular Plane Systolic Excursion/Systolic Pulmonary Artery Pressure ratio (TAPSE/sPAP) has been recently proposed as a surrogate of RV-arterial coupling (RVAC) in many cardiac disorders. Purpose This study aims to compare RVAC between CA subgroups and between CA and other forms of genetic and non-genetic cardiomyopathies with hypertrophic phenotype. Methods We enrolled 50 patients with CA (26 pts with AL and 24 pts with wild type ATTR form), 75 patients with LV hypertrophy (LVH) [25 patients with HCM, 25 with hypertensive cardiomyopathy (HypCM), and 25 with aortic stenosis]. We analysed right chambers dimensions and classical and novel parameters of RV function [TAPSE, TAPSE/sPAP, St (S' wave at RV TDI), global (RVGLS) and free-wall (RVFWS) strain]. Results The ATTR group showed higher right dimensions than AL, without differences in all RV systolic parameters (see Table 1). Compared to the LVH group, CA patients showed no differences in RV dimensions while RV systolic parameters, included the TAPSE/sPAP ratio, were significantly reduced. At ROC curve analysis TAPSE (AUC 0.877; 95% CI: 0.811–0.943; p Discussion The RVAC is significantly impaired in CA compared to the LVH group but not between CA subgroups. TAPSE/sPAP proved to be a novel echocardiographic parameter useful in discriminating CA among genetic and non-genetic forms of LVH, and that also show prognostic significance. Funding Acknowledgement Type of funding sources: None. Figure 1. K-M for TAPSE/sPAP ratio IQ rangesTable 1

Background Hypertrophic cardiomyopathy (HCM) is characterized by extremely varied phenotypic expression ranging from asymptomatic to heart failure (HF) to sudden cardiac death (SCD). Although children with HCM are considered in the highest risk spectrum, the most common recommendations on pharmacological and non-pharmacological treatment (i.e. drugs, ICD, septal reduction procedures, inclusion in cardiac transplantation list) are often disregarded or too much postponed in this setting and strong evidence-based risk prediction models are missing. A systematic cardiopulmonary exercise test (CPET) assessment might be helpful to disclose an unsuspected functional limitation. Purpose The aim of our multicenter retrospective study was to investigate possible clinical insights, in terms of functional and prognostic assessment, coming from a full CPET assessment in a cohort of pediatric HCM outpatients aged less than 18 years old. Methods Sixty consecutive pediatric HCM outpatients aged Results An impaired exercise capacity, consisting on peak VO2 values Respect to the control Group, the HCM patients showed a significantly poorer functional status in terms of maximum workload achieved, peak VO2 (regardless the adopted correction), circulatory power and VE/VCO2 slope values (Figure 1, panel A). HCM patients who experience adverse events during the follow-up (Event Group) showed the worst CPET profile (Figure 1, panel B). The composite end-point occurred more frequently in patients with the worst CPETs' profiles. At the univariate analysis, peak VO2% was the variable with the strongest association with adverse events at follow-up (C-index=0.72, p=0.025) and a cut-off value equal to 60% was the most accurate in identifying those patients at the highest risk (Figure 2). Conclusions Our findings support the role of CPET analysis as an insightful approach in the young HCM clinical management. In a group of young asymptomatic or slightly symptomatic HCM patients, the CPET allowed us to estimate accurately their functional capacity and to disclose a portion of un-recognized exercise impairment. Our data argue in favor of a possible role of some CPET-derived variables in the early identification of those young HCM patients at highest risk of HCM related events. Funding Acknowledgement Type of funding sources: None. Figure 1Figure 2

Background Left atrial function (LAF) is emerging as a novel determinant of clinical status and outcome in cardiomyopathies. However, few studies compare LAF between CA subgroups and between CA and other hypertrophic cardiomyopathies. Purpose This study explores the LAF in cardiomyopathies with hypertrophic phenotype and between CA subgroups and its consequences on clinical status, haemodynamic consequences and survival. Methods We enrolled 50 patients with CA (26 with AL and 24 with wild type ATTR form), 75 patients with LV hypertrophy (LVH) [25 with hypertrophic cardiomyopathy (HCM), 25 with hypertensive cardiomyopathy (HypCM), and 25 with aortic stenosis (AS)]. Besides routine echocardiographic measurements, we analysed LAF using the phasic method (LAEI as reservoi, LAPEF as conduit, LAAEF as pump and TLAEF as total emptying LA function). Results The ATTR showed higher atrial dimensions with a significant reduction in the reservoir and total LA emptying function compared to the AL group (see Table 1). Instead, compared to the LVH group, CA patients showed higher atrial dimension with all LAF phasic parameters reduced, higher LV filling pressures and reduced biventricular function. Then, we further divided the CA and LVH group into subgroups based on the presence or absence of LA dysfunction (LADys+) defined as TLAEF values below the median [TLAEF Discussion The LAF is significantly impaired in CA and associated with worst clinical status, higher incidence of RV dysfunction and higher LV filling and pulmonary pressure. Moreover, LADys is significant associated with higher cardiovascular mortality. LADys results from chronic pressure overload due to LA's exposition to the higher LV diastolic pressure due to impaired LV compliance, and from direct infiltration in CA The result is a progressive LA remodelling with an increased LA pressure and consequenT backward transmission to the pulmonary venous system and to RV. Conclusions The TLAEF is a novel parameter of LAF that correlates with increased pulmonary vascular resistance and RV dysfunction. It seems a promising novel prognosticator and amarker of the haemodynamic consequences of LADys. Funding Acknowledgement Type of funding sources: None. Table 1Figure 1

Background Cardiac amyloidosis (CA) is an infiltrative disorder characterized by left ventricular (LV) thickening and dysfunction. Due to it poor prognosis its early detection and differential diagnosis among other forms of cardiomyopathies is fundamental. Purpose This study aimed to compare the diagnostic accuracy of LV classical and and novel echocardiographic parameters in differentiating CA from other forms of genetic and non-genetic cardiomyopathies with hypertrophic phenotype. Methods We included 50 patients with CA (26 pts with AL and 24 pts with wild type ATTR form) and 75 patients with LV hypertrophy (LVH) [25 patients with hypertrophic cardiomyopathy (HCM), 25 with hypertensive cardiomyopathy (HypCM), and 25 with aortic stenosis (AS)]. Besides routine echocardiographic measurements, we analysed standard and novel echo parameters implied in LV assessment [LV ejection fraction (LVEF), myocardial contraction fraction (MCF), global longitudinal strain (GLS), relative regional strain ratio (RRSR), ejection fraction on strain ratio (EFSR)], included novel Myocardial Work (MW) parameters [Global Work Index (GWI), Global Constructive Work (GCW), Global Wasted Work (GWW), Global Work Efficiency (GWE)]. Results Patients in CA group showed a smallest LV cavity size, higher LV mass and, consequently, a more pronounced concentric hypertrophy compared to LVH group. All LV systolic parameters where more impaired in CA than in LVH group. At ROC curve analysis, among all others, GCW showed the best performance in discriminating CA from LVH (AUC 0.886; 95% CI: 0.819–0.954; P Discussion Although CA and and LVH have with similar phenotype, they differ greatly in terms of systolic function. The MW, estimated by non-invasive pressure-strain loops, is a novel method for a load-independent LV systolic function assessment. In the present study the GCW showed the best ability in detecting CA in comparison to other parameters usually implied in clinical practice. Conclusion Myocardial performance is significantly reduced in CA compared to other forms of LVH. GCW showed to be a promising novel diagnostic and prognostic factor in this setting. Funding Acknowledgement Type of funding sources: None. Table 1Figure 1

Background Left ventricular hypertrophy (LVH) in infants of diabetic mothers (IDMs) has been generally considered a benign condition, which usually regresses as the stimulus for the insulin production disappears, resulting in normalized left ventricular wall thickness in the 6 months of life. However, these conclusions have been based on small, mostly outdated cohort studies. Indeed, it has been recently shown that increased left ventricular mass persists in late infancy (6 to 12 months), long after the intrauterine exposure has been removed, suggesting that other factors may potentially contribute. Purpose This study sought to describe the characteristics and the natural course of LVH in a well-characterized consecutive cohort of IDMs. Methods Sixty consecutive IDMs with LVH have been retrospectively identified and enrolled in the study. All IDMs were evaluated at baseline and every 6 months until LV wall thickness regression, defined as the decrease of wall thickness measurement into the normal reference range for cardiac parameters (z-score >−2 and Results At 1-year follow-up, all IDMs showed a significant reduction of maximal wall thickness (MWT) (MWT-mm: 6.67±2.37 vs. 5.83±1.70, p-value At multivariate analysis, MWT was significantly associated with LV wall thickness regression at 1-year follow-up (MWT-mm: OR 0.48 [0.29–0.79], p-value=0.004; MWT-z-score: OR 0.71 [0.56–0.90], p-value=0.004) in an inversely proportional fashion. Overall, 59%, 72% and 79% of IDMs with LVH showed a complete LV wall thickness regression at 1-year, 2-year and 3-year follow-up, respectively (Figure 2). Excluding the two patients with a different cause of LVH, all IDMs showed a LV wall thickness regression in the first 6 years of life. Conclusions LVH in IDMs represents a benign condition with complete regression during the first years of life. In those patients without LV wall thickness regression, combined with clinical markers suggesting a specific disease, a complete work-up is required for a definite diagnosis. Funding Acknowledgement Type of funding sources: None. Figure 1Figure 2

Introduction This study aimed to validate the increased wall thickness (IWT) score, a multiparametric echocardiographic score to facilitate diagnosis of cardiac amyloidosis (CA), in an independent population of patients with increased LV wall thickness suspicious for CA. Methods Between January 2019 and December 2020, 152 consecutive patients with increased LV wall thickness suspicious for CA were included. For all patient, the multiparametric echocardiographic score (IWT score) was calculated. To validate the diagnostic accuracy of an IWT score ≥ 8 to predict the diagnosis of CA, sensibility (Se), specificity (Sp), positive predictive value (PPV), negative predictive value (NPV), and predictive accuracy (PA) were calculated. Results Among the 152 patients included in the study, 50 (33%) were diagnosed as CA, 25 (16%) had severe aortic stenosis, 25 (16%) had hypertensive remodeling, and 52 (34%) had hypertrophic cardiomyopathy. Among the 50 and 102 patients with and without CA, 19 (38%) and 1 (1%) showed an IWT score ≥ 8, respectively. Overall, the diagnostic accuracy of an IWT score ≥ 8 for the diagnosis of CA in our population was the following: Se 38% (95%CI 25–53%); Sp 99% (95%CI 95–100%); PPV 95% (95%CI 72–99%); NPV 77% (95%CI 73–80%); PA 79% (95%CI 72–85%). Conclusions This study reports the first external validation of the IWT score for the diagnosis of CA in patients with increased LV wall thickness. A score ≥ 8 showed a high Sp, PPV and PA, suggesting that the IWT score can be used to identify CA patients in those with increased LV wall thickness.

We evaluated the impact of weight loss (WL) using a Mediterranean diet and mild-to-moderate–intensity aerobic exercise program, on clinical status of obese, symptomatic patients with hypertrophic cardiomyopathy (HCM). Compared with nonresponders, responders showed a significant reduction of left atrial diameter, left atrial volume index (LAVI), E/Eʹaverage, pulmonary artery systolic pressure (PASP), and a significant increase in VO2max (%) and peak workload. Body mass index changes correlated with reduction in left atrial diameter, LAVI, E/Eʹaverage, PASP, and increase of VO2max (mL/Kg/min), VO2max (%), peak workload. Mediterranean diet and aerobic exercise is associated with clinical-hemodynamic improvement in obese symptomatic HCM patients.

Patients with bicuspid aortic valve (BAV) have an increased risk of aortic dilation and aortic dissection or rupture. The impact of physical training on the natural course of aortopathy in BAV patients remains unclear. The aim of this study was to evaluate the impact of regular physical activity on aortic diameters in a consecutive cohort of paediatric patients with BAV. Consecutive paediatric BAV patients were evaluated and categorized into two groups: physically active and sedentary subjects. Only the subjects with a complete 2-year follow-up were included in the study. To evaluate the potential impact of physical activity on aortic size, aortic diameters were measured at the sinus of Valsalva and mid-ascending aorta using echocardiography. We defined aortic diameter progression the increase of aortic diameter ≥ 10% from baseline. Among 90 BAV patients (11.5 ± 3.4 years of age, 77% males), 53 (59%) were physically active subjects. Compared to sedentary, physically active subjects were not significantly more likely to have > 10% increase in sinus of Valsalva (13% vs. 8%, p-value = 0.45) or mid-ascending aorta diameter (9% vs. 13%, p-value = 0.55) at 2 years follow-up, both in subjects with sinus of Valsalva diameter progression (3.7 ± 1.0 mm vs. 3.5 ± 0.8 mm, p-value = 0.67) and in those with ascending aorta diameter progression (3.0 ± 0.8 mm vs. 3.2 ± 1.3 mm, p-value = 0.83). In our paediatric cohort of BAV patients, the prevalence and the degree of aortic diameter progression was not significantly different between physically active and sedentary subjects, suggesting that aortic dilation is unrelated to regular physical activity over a 2-year period.

Background Right chambers involvement is common in cardiac amyloidosis (CA) but has been ever compared to control groups. Purpose Aim of this study is to compare right heart involvement between CA subgroups (AL vs. ATTR amyloidosis) and between CA and other forms of genetic and non-genetic left ventricular hypertrophy. Methods We enrolled 25 patients with CA (10 pts with AL and 15 pts with wild type ATTR amyloidosis) and 75 patients with LVH (25 HCM pts; 25 HypCMP pts; 25 AS pts). Beside routine echocardiographic measurements, we analysed right chambers dimensions and classical and novel parameters for right ventricular (RV) function [TAPSE (Tricuspid Anulus Plane Systolic Excursion), St (S' wave at RV TDI), global and free-wall strain]. Results ATTR group showed higher right dimensions compared to AL, without differences in RV systolic parameters (see table). CA patients, compared to LVH group, showed no differences in right dimensions. RV systolic parameters were significantly reduced while diastolic Doppler parameters were higher (E/E' 21.7±9.0 vs. 11.2±5.0; p Discussion CA group showed a significantly impaired RV systolic function with higher pulmonary pressures compared to LVH group. TAPSE proved to be the only able to discriminate CA among genetic and non-genetic forms of LVH and also to have prognostic significance. Funding Acknowledgement Type of funding source: None

Background:Marfan syndrome is an autosomal dominant disorder of the connective tissue, whose cardinal features affect eyes, musculoskeletal, and cardiovascular system. Despite prevalence and natural history of cardiovascular manifestation are well known in adults, little is known about children and young adult patients. The aim of this study was to describe a well-characterised cohort of consecutive children and young patients with marfan syndrome, looking at the impact of family history and presence of bicuspid aortic valve on disease severity.Methods:A total of 30 consecutive children and young patients with Marfan syndrome were evaluated. All patients underwent a comprehensive clinical–instrumental–genetic evaluation. Particular attention was posed to identify differences in prevalence of cardiovascular abnormalities between patients with and without family history of Marfan syndrome or bicuspid aortic valve.Results:Of these 30 patients, family history of Marfan syndrome and bicuspid aortic valve were present in 76 and 13%, respectively. Compared to patients with family history of Marfan syndrome, those without showed higher prevalence of aortic sinus dilation (87 versus 32%, p-value = 0.009), greater aortic sinus diameters (4.2 ± 2.1 versus 1.9 ± 1.1 z score, p-value = 0.002), and higher rate of aortic surgery during follow-up (37 versus 0%, p-value = 0.002). Compared to patients with tricuspid aortic valve, those with bicuspid aortic valve were younger (3.2 ± 4.3 versus 10.7 ± 6.8 years old, p-value = 0.043), showed greater aortic sinus diameters (4.2 ± 0.9 versus 2.2 ± 1.6 z score, p-value = 0.033), and underwent more frequently aortic root replacement (50 versus 4%, p-value = 0.004).Conclusions:In our cohort of patients with Marfan syndrome, the absence of family history and the presence of bicuspid aortic valve were associated to severe aortic phenotype and worse prognosis.

Aim: Anderson-Fabry disease (AFD) is a hereditary disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A which causes dysfunctions in multiple organ systems. Cardiac manifestation includes left ventricular hypertrophy, thickening of the valves, conduction disturbances and in the late phase, extensive areas of myocardial fibrosis with increased risk of sudden cardiac death. Case example: A case of AFD with exclusive cardiac involvement is described. During follow-up, due to the high risk of life-threatening arrhythmic events, implantation of an implantable cardioverter defibrillator is performed. Conclusion: AFD patients with advanced cardiac disease might represent a subgroup of patients who may require an implantable cardioverter defibrillator for primary prevention of sudden cardiac death.

Pregnancy exposes women with inherited cardiomyopathies to increased risk for arrhythmias and heart failure. In asymptomatic patients with inherited cardiomyopathies, pregnancy is generally well tolerated. Preconception evaluation, risk assessment and proper counseling by a team of experienced physicians are mandatory in managing women with inherited cardiomyopathies planning pregnancy. In this paper, we reviewed the clinical course, risk assessment and management during pregnancy of women with cardiomyopathies.

Hypertrophic cardiomyopathy (HCM) is the most common known inherited heart disorder, with a prevalence of 1: 500 of the adult population. Etiology of HCM can be heterogeneous, with sarcomeric gene disease as the leading cause in up to 60% of the patients, and with a number of possible different diseases (phenocopies) in about 10%-15% of the patients. Early diagnosis of storage and infiltrative disorders, particularly those with specific treatments (i.e., Fabry disease and/or amyloidosis), means early management and treatment, with a significant impact on patients prognosis. Here, we report on four different cases of HCM, highlighting difficulties to make differential diagnosis of different forms of cardiomyopathies, and their potential impact on the management.

Takotsubo syndrome (TTS) is an enigmatic disease with a multifactorial and still unresolved pathogenesis. A genetic predisposition has been suggested based on the few familial TTS cases. Conflicting results have been published regarding the role of functional polymorphisms in relevant candidate genes, such as α1-, β1-, and β2-adrenergic receptors; G protein-coupled receptor kinase 5; and estrogen receptors. Further research is required to help clarify the role of genetic susceptibility in TTS.

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Background Myocardial Work (MW) is a novel non-invasive echocardiographic method for myocardial performance assessment. MW is abnormal in patients with many forms of left ventricular hypertrophy [hypertrophic cardiomyopathy (HCM), hypertensive cardiomyopathy (HypCM), aortic stenosis (AS)] while little is known about cardiac amyloidosis (CA). Purpose We aimed to evaluate the role of MW in myocardial performance assessment, diagnostic significance and prognostic relevance in CA patients. Methods 25 patients with CA (10 AL pts and 15 ATTRwt pts) and 75 patients with LVH (25 HCM pts, 25 HypCMP pts, 25 pts mild AS pts) were enrolled. Beside routine measurements, deformation parameters [GLS (Global Longitudinal Strain), EFSR (Ejection Fraction on Strain Ratio), RRSR (Relative Regional Strain Ratio)], and MW parameters [MWI (Myocardial Work Index), GCW (Global Constructive Work), GWW (Global Wasted Work), GWE (Global Work Efficiency)] for LV function evaluation were analysed. Results LV and RV function evaluated with classical and novel parameters were significantly impaired in CA group (see table). Among all these parameters, GCW showed the best performance to discriminate CA from other forms of LVH (AUC 0.90; 95% CI: 0.80–0.99; P Discussion Myocardial performance was reduced in CA group. GCW was able to discriminate CA from other forms of LVH and showed to be an independent prognostic factor. In our pilot study GCW seems a promising novel diagnostic and prognostic factor in CA. Kaplan-Meier curve Funding Acknowledgement Type of funding source: None