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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.

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 with preserved ejection fraction (HFpEF) is a complex clinical syndrome that has become a global health issue, with mortality ranging from 53% to 74% at 5 years. It is defined as the presence of signs and symptoms of heart failure associated with left ventricular ejection fraction greater than or equal to 50%. The definition and diagnosis of HFpEF in patients with unexplained dyspnea remain a clinical challenge in the absence of a unique diagnostic algorithm universally recognized. Clinical trials conducted so far did not show a significant improvement of prognosis, but forthcoming therapies could provide innovative solutions.

Objectives: The aim of this study was to evaluate the outcome of transcatheter mitral valve repair (TMVr) in patients with cardiogenic shock and significant mitral regurgitation (MR). Background: Patients in cardiogenic shock with severe MR have a poor prognosis in the setting of conventional medical therapy. Because of its favorable safety profile, TMVr is being increasingly used as an acute therapy in this population, though its efficacy remains unknown. Methods: A multicenter, collaborative, patient-level analysis was conducted. Patients with cardiogenic shock and moderate to severe (3+) or severe (4+) MR who were not surgical candidates were treated with TMVr. The primary outcome was in-hospital mortality. Secondary outcomes included 90-day mortality, heart failure (HF) hospitalization, and the combined event rate of 90-day mortality and HF hospitalization following dichotomization by TMVr device success. Results: Between January 2011 and February 2019, 141 patients across 14 institutions met the inclusion criteria. In-hospital mortality occurred in 22 patients (15.6%), at 90 days in 38 patients (29.5%), and at one year in 55 patients (42.6%). Median length of hospital stay following TMVr was 10 days (interquartile range: 6 to 20 days). HF hospitalization occurred in 26 patients (18.4%) at a median of 73 days (interquartile range: 26 to 546 days). When stratified by TMVr procedural results, successful TMVr reduced rates of in-hospital mortality (hazard ratio [HR]: 0.36; 95% confidence interval [CI]: 0.13 to 0.98; p = 0.04), 90-day mortality (HR: 0.36; 95% CI: 0.16 to 0.78; p = 0.01), and the composite of 90-day mortality and HF hospitalization (HR: 0.41; 95% CI: 0.19 to 0.90; p = 0.03). Conclusions: TMVr may improve short- and intermediate-term mortality in high-risk patients with cardiogenic shock and moderate to severe MR. Randomized studies are needed to definitively establish MR as a therapeutic target in patients with cardiogenic shock.

Background The EORP Cardiomyopathy Registry is a prospective, observational, multinational registry of consecutive patients with cardiomyopathies. The objective of this report is to describe the outcomes at one year of follow-up of adult patients (> 18 years old) enrolled in the registry. Methods A total of 3208 patients [median age: 55.0 (43.0;64.0) years, males: 65.1%] were recruited at baseline. Follow-up data at 1 year were obtained in 2,713 patients (84.6%), including 1420 with hypertrophic (HCM), 1,105 dilated (DCM), 128 arrhythmogenic right ventricular (ARVC) and 60 restrictive cardiomyopathy (RCM) ( Fig. 1 ). Results Improvement of symptoms (NYHA, chest pain, syncope) was globally observed over time (P Conclusions Despite symptomatic improvement in most cases, there is still a significant burden of arrhythmic and heart failure events in patients with cardiomyopathies. Outcomes were different not only according to cardiomyopathy subtypes but also in relatives versus index patients.

Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A (GLA) gene. AFD can affect the heart, brain, kidney, eye, skin, peripheral nerves, and gastrointestinal tract. Cardiology (hypertrophic cardiomyopathy), neurology (cryptogenic stroke), and nephrology (end-stage renal failure) screening studies suggest the prevalence of GLA variants is 0.62%, with diagnosis confirmation in 0.12%. OBJECTIVES: This study sought to expand screening from these settings to include ophthalmology, dermatology, gastroenterology, internal medicine, pediatrics, and medical genetics to increase diagnostic yield and comprehensively evaluate organ involvement in AFD patients. METHODS: In a 10-year prospective multidisciplinary, multicenter study, we expanded clinical, genetic, and biochemical screening to consecutive patients enrolled from all aforementioned clinical settings. We tested the GLA gene and α-galactosidase A activity in plasma and leukocytes. Inclusion criteria comprised phenotypical traits and absence of male-to-male transmission. Screening was extended to relatives of probands harboring GLA mutations. RESULTS: Of 2,034 probands fulfilling inclusion criteria, 37 (1.8%) were carriers of GLA mutations. Cascade family screening identified 60 affected relatives; clinical data were available for 4 affected obligate carriers. Activity of α-galactosidase A in plasma and leukocytes was diagnostic in male subjects, but not in female subjects. Of the 101 family members harboring mutations, 86 were affected, 10 were young healthy carriers, and 5 refused clinical evaluation. In the 86 patients, involved organs or organ systems included the heart (69%), peripheral nerves (46%), kidney (45%), eye (37%), brain (34%), skin (32%), gastrointestinal tract (31%), and auditory system (19%). Globotriaosylceramide accumulated in organ-specific and non-organ-specific cells in atypical and classic variants, respectively. CONCLUSIONS: Screening probands with clinically suspected AFD significantly increased diagnostic yield. The heart was the organ most commonly involved, independent of the clinical setting in which the patient was first evaluated. Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

The coexistence of GLA (Pro259Ser, c.775C>T) and MYBPC3 (c.1351+2T>C) mutations was found in a female patient with hypertrophic cardiomyopathy. Histology documented abundant vacuolisation with osmiophilic lamellar bodies and positive Gb3 immunohistochemistry. In the presence of a hypertrophic cardiomyopathy phenotype, the systematic search for unusual findings is mandatory to rule out a phenocopy.

This study investigated the fate of the stent inner surface in carotid artery stenting (CAS). In addition, the occurrence of late cerebral micro-embolism after CAS has been studied in order to identify predictors and correlate it with a possible neo-intimal layer. METHODS: A series of patients were evaluated before CAS through aortic arch trans-oesophageal echocardiography. Six months after CAS, the stent coverage by neo-intima and the possible presence of uncovered plaques were determined by high-resolution duplex scanning (5-17-Hz probe and 3D reconstruction). Possible micro-embolic signals (MESs) were evaluated through transcranial duplex scanning (30-min analysis of ipsilateral middle cerebral artery with a 1-4-Hz probe) and correlated with patients' characteristics, intimal media thickness (IMT) (>0.9mm vs. 4mm). Fisher's and Wilcoxon tests were used to evaluate differences across groups for categorical and continuous variables, respectively. RESULTS: In the 68 CASs examined (40 closed cells and 28 open cells), the stent was completely covered by neo-intima in 52 cases (76.4%). Complete coverage was significantly correlated with IMT

The pathophysiologic mechanisms of left ventricular (LV) dysfunction in isolated ventricular noncompaction (IVNC) remain unclear. Evaluating global and segmental systolic LV function in 65 patients with IVNC, this study found that normal wall motion was more common in noncompacted than in compacted segments. The number of noncompacted segments per patient correlated positively with the LV ejection fraction and negatively with LV end-diastolic volume index. These paradoxical findings support the concept that noncompaction represents a marker of a more generalized (cardio)myopathy rather than the direct pathophysiologic substrate of this still little-understood disease.

The effects of reperfusion on early and late infarct size and left ventricular wall characteristics were studied by performing cine-magnetic resonance imaging, first-pass perfusion, and delayed enhancement imaging in 22 patients at five days and five months after successful primary angioplasty for first acute myocardial infarction. Infarct size, end-diastolic wall thickness, and segmental wall thickening were quantified, and the extent of microvascular obstruction (MO) was evaluated qualitatively. Infarct size decreased by 31%. Segments without MO had early increased wall thickness and late partially normalized wall thickening. Segments with MO showed late wall thinning and no functional recovery at five months.We aimed to study the effects of early successful primary angioplasty for ST-segment elevation acute myocardial infarction (AMI) on early and late infarct size and left ventricular (LV) wall characteristics.Early reperfusion treatment for AMI preserves LV function, but the effects on early and late infarct size, end-diastolic wall thickness (EDWT), and segmental wall thickening (SWT) are not well known.In 22 patients with successful primary angioplasty for first AMI, cine-magnetic resonance imaging (MRI), first-pass perfusion, and delayed-enhancement imaging was performed at five days and five months. The extent of microvascular obstruction (MO) was evaluated on perfusion images. Infarct shrinkage was defined as the difference between the volume of delayed-enhancement at five days and five months. The EDWT and SWT were quantified on cine-MRI.Infarct shrinkage occurred to the same extent in small and large infarctions [r = 0.92; p0.001], with a mean decrease of 31% (35 +/- 21 g to 24 +/- 17 g). Dysfunctional segments without MO had an increased EDWT at five days compared with remote myocardium (9.2 +/- 1.7 mm vs. 8.4 +/- 1.7 mm; p0.001). At five months, EDWT in these segments became comparable to the thickness of remote myocardium (7.8 +/- 1.6 mm vs. 7.6 +/- 1.4 mm; p = 0.60), and SWT improved (21 +/- 15% to 40 +/- 24%; p0.001) but remained impaired (40 +/- 24% vs. 71 +/- 29%; p0.001). Segments with MO demonstrated wall thinning at five months (6.4 +/- 1.3 mm vs. 7.6 +/- 1.4 mm; p = 0.006) and no significant recovery in SWT (12 +/- 14% to 17 +/- 20%; p = 0.15).Infarct size decreased by 31%. Segments without MO had early increased wall thickness and late partial functional recovery. Segments with MO showed late wall thinning and no functional recovery at five months.

This study was designed to assess the functional and prognostic significance of left anterior hemiblock (LAHB) in patients with no history of myocardial infarction referred for dobutamine stress echocardiography (DSE). BACKGROUND: The significance of isolated LAHB in patients with suspected coronary artery disease (CAD) is unclear. METHODS: We studied 1,187 patients with suspected CAD and no history of myocardial infarction who underwent DSE and were followed for occurrence of cardiac death. RESULTS: Left anterior hemiblock was detected on baseline electrocardiogram in 159 patients (13%). Ischemia occurred more frequently in patients with LAHB (43% vs. 33%, p = 0.02). During a mean follow-up of 5.0 +/- 2.5 years, 125 patients (11%) died of cardiac causes. The annual cardiac death rate was 4.9% in patients with LAHB and 1.9% for patients without (p < 0.0001). Patients with both LAHB and an abnormal DSE had the highest annual cardiac death rate (6.3%). In a Cox multivariable analysis, independent predictors of cardiac death were age, smoking, history of heart failure, diabetes, and ischemia. Left anterior hemiblock was independently associated with increased risk of cardiac death among patients with normal DSE (hazard ratio 1.8, 95% confidence interval 1.1 to 3.8) and in patients with abnormal DSE (hazard ratio 1.7, 95% confidence interval 1.1 to 2.7). CONCLUSIONS: In patients with suspected CAD referred for stress testing, LAHB is associated with increased risk of cardiac death. This risk is persistent after adjustment for major clinical data and abnormalities on the stress echocardiogram. Therefore, isolated LAHB should not be considered a benign electrocardiographic abnormality in these patients.

The presence of myocardial ischemia during dobutamine stress echocardiography is independently associated with an increased risk of all-cause mortality in women after adjustment for clinical data. This association is observed in patients who have proved coronary artery disease and in patients who have no history of coronary artery disease.

Objectives The aim of this study was to investigate the effects of gender on long-term prognosis of patients undergoing dobutamine stress echocardiography (DSE). Background Gender differences in the predictors of outcome among patients with known or suspected coronary artery disease undergoing DSE have not been adequately studied. Methods We studied 2,276 men and 1,105 women with known or suspected coronary artery disease who underwent DSE. Follow-up events were cardiac death and nonfatal myocardial infarction (MI). Results Dobutamine stress echocardiography was normal in 687 men (30%) and 483 women (44%) (p Conclusions Dobutamine stress echocardiography provides independent prognostic information in both men and women. In patients with normal DSE, gender is independently associated with cardiac events. The outcome of patients with abnormal DSE is not related to gender, after adjusting for stress echocardiographic abnormalities.

Background Detection of myocardial viability is crucial for clinical treatment of patients with ischemic cardiomyopathy. Currently, quantitative information for the evaluation of systolic and diastolic function of viable tissue is limited. Our aim was to compare quantitatively systolic and diastolic function in viable and nonviable dysfunctional myocardium in patients with ischemic cardiomyopathy. Methods A total of 93 patients (mean age, 62 ± 10 years) underwent dobutamine stress echocardiography to assess myocardial viability. Pulsed-wave tissue Doppler imaging (TDI) was used to assess systolic ejection velocity (V S ) and early (V E ) and late (V A ) diastolic velocities at rest and at low-dose dobutamine infusion (10 μg/kg per minute) in viable and nonviable dysfunctional regions. Analysis was repeated after dividing study population in patients ≥65 years old (n = 40) and Results Pulsed-wave TDI demonstrated that V S was comparable in dysfunctional viable and nonviable regions at rest (V S , 6.3 ± 1.9 cm/s vs 6.3 ± 2.0 cm/s, respectively, P = .93). However, at low-dose dobutamine challenge, V S was significantly higher in viable regions (8.5 ± 2.7 cm/s vs 7.8 ± 2.4 cm/s, P = .002). Viable regions had higher V E at rest compared with nonviable regions (8.4 ± 2.5 cm/s vs 7.5 ± 2.8 cm/s, P = .003). Myocardial velocities were significantly higher in patients ≥65 years old, both in viable and nonviable regions. Conclusions Quantification of myocardial motion by pulsed-wave TDI demonstrates that at low-dose dobutamine stress, systolic velocity is markedly improved in viable myocardium, indicating the presence of contractile reserve in viable regions. A superior early diastolic filling at rest can also differentiate viable from nonviable myocardium.

ObjectivesWe sought to determine whether end-diastolic wall thickness (EDWT) can predict recovery of regional left ventricular contractile function after percutaneous coronary intervention (PCI).BackgroundRegional contractile function does not recover in all patients after PCI for acute myocardial infarction (AMI). Prediction of functional recovery after AMI may help in clinical decision making.MethodsForty consecutive patients with AMI were studied with left ventricular contrast echocardiography for accurate wall thickness and function measurement and myocardial perfusion immediately after and two months following PCI.ResultsOut of 640 segments, 175 (27%) dysfunctional segments in the infarct territory were analyzed for EDWT, wall function, and perfusion. One hundred and three (59%) dysfunctional segments presented with an EDWT

The myocardial contraction fraction (MCF) is a volumetric index of myocardial shortening, defined as the ratio of LV stroke volume to myocardial volume. We hypothesize that MCF: may be associated with delayed enhancement, is correlated with functional capacity and is associated with SCD in HCM. As

Hypertrophic cardiomyopathy (HCM) is the most common, heritable cardiovascular disorder and the most frequent cause of sudden cardiac death (SCD) in young adults. Gender disparities with regards to clinical outcomes among HCM patients are not well-defined. We investigated the relationship between

Cardiovascular magnetic resonance (CMR) with extensive late gadolinium enhancement (LGE) is a novel marker for increased risk for sudden death in patients with hypertrophic cardiomyopathy (HCM) presumably due to ventricular tachyarrhythmias emanating from areas of replacement fibrosis. Of particular

Background: Senile systemic amyloidosis (SSA), due to intramyocardial deposition of wild-type transthyretin (TTR), is often mistaken as hypertensive heart disease (HHD) or hypertrophic cardiomyopathy (HCM). In patients with amyloidotic cardiomyopathy 99mTc-DPD scintigraphy can differentiate between TTR (mutant and wild-type) and primary amyloidosis. We assessed the diagnostic performance of 99mTc-DPD scintigraphy in the non-invasive identiication of SSA in a clinical context of elderly patients with unexplained concentric left ventricular (LV) “hypertrophy”.

The Doppler echocardiographic pattern of restrictive left ventricular (LV) filling has proved to be an important predictor of clinical course and prognosis in dilated cardiomyopathy. However, the relation between restrictive filling pattern and clinical course has not been systematically investigated in hypertrophic cardiomyopathy (HC). We assessed the prognostic implications of the Doppler restrictive filling pattern in 239 consecutive patients with HC in whom Doppler measurements of LV filling had been systematically recorded at initial evaluation and during follow-up. Restrictive LV filling was identified in 14 patients (5.9%) at initial evaluation and developed in 22 (9.2%) during follow-up. A close relation was identified between restrictive filling pattern and end-stage HC, with patients with restrictive filling showing a sixfold increase in risk of developing end-stage HC (hazard ratio 6.25, 95% confidence interval 1.90 to 20.57, p = 0.003). Over a median follow-up of 9.7 years, 22 patients (9.2%) died suddenly or received appropriate cardioverter-defibrillator interventions, and 54 (22.6%) had HC-related death or underwent heart transplantation. In a set of univariate and multivariate analyses including each of the generally accepted risk factors for cardiac death in HC, the restrictive filling pattern was a strong and independent marker of increased risk (hazard ratio for sudden cardiac events 3.51, 95% confidence interval 1.37 to 8.95, p = 0.009; hazard ratio for HC-related death or heart transplantation 3.54, 95% confidence interval 1.91 to 6.57, p