Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are leading causes of sudden death and heart failure in young, otherwise healthy, individuals. We conducted genome-wide association studies and multi-trait analyses in HCM (1,733 cases), DCM (5,521 cases) and nine left ventricular (LV) traits (19,260 UK Biobank participants with structurally normal hearts). We identified 16 loci associated with HCM, 13 with DCM and 23 with LV traits.

Effect of Gender and Genetic Mutations on Outcomes in Patients With Hypertrophic Cardiomyopathy.

Gender has been proposed to impact the phenotype and prognosis of hypertrophic cardiomyopathy (HC). Our aims were to study gender differences in the clinical presentation, phenotype, genotype, and outcome of HC. This retrospective single-center cohort study included 1,007 patients with HC (62% male, 80% genotyped) evaluated between 1977 and 2017.

Prognostic significance of anterior mitral valve leaflet length in individuals with a hypertrophic cardiomyopathy gene mutation without hypertrophic changes.

Purpose: Previous studies suggest that anterior mitral valve leaflet (AMVL) elongation is a primary phenotypic feature in hypertrophic cardiomyopathy (HCM). Our aim was to assess AMVL length in individuals with HCM gene mutations and in healthy controls and to identify predictors of the development of HCM during follow-up.

Methods: A total of 133 HCM mutation carriers and 135 controls underwent cardiac examination including electro- and echocardiography.

Sex Differences at the Time of Myectomy in Hypertrophic Cardiomyopathy.

Background: One of the first clinically detectable alterations in heart function in hypertrophic cardiomyopathy (HCM) is a decline in diastolic function. Diastolic dysfunction is caused by changes in intrinsic properties of cardiomyocytes or an increase in fibrosis. We investigated whether clinical and cellular parameters of diastolic function are different between male and female patients with HCM at the time of myectomy.

Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy.

Background: Contemporary hypertrophic cardiomyopathy (HCM) family screening includes clinical evaluation and genetic testing (GT). This screening strategy requires the identification of a pathogenic mutation in the proband. Our aim was to examine the results of this HCM screening strategy.

Three-dimensional echocardiography for the assessment of left ventricular geometry and papillary muscle morphology in hypertrophic cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HC) is characterized by left ventricular (LV) hypertrophy and associated with papillary muscle (PM) abnormalities. The aim of this study was to evaluate the utility of three-dimensional echocardiography (3DE) for the geometric assessment of LV hypertrophy and PM morphology.

Methods: The study included 24 patients with an established diagnosis of HC and 31 healthy controls.

Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation.

Background: (Myosin-binding protein C) founder mutations account for 35% of hypertrophic cardiomyopathy (HCM) cases in the Netherlands. We compared clinical characteristics and outcome of founder mutation (FG+) HCM with nonfounder genotype-positive (G+) and genotype-negative (G-) HCM.

Methods And Results: The study included 680 subjects: 271 FG+ carriers, 132 G+ probands with HCM, and 277 G- probands with HCM.

Incidence of Device-Detected Atrial Fibrillation and Long-Term Outcomes in Patients With Hypertrophic Cardiomyopathy.

Atrial fibrillation (AF) is a common complication of hypertrophic cardiomyopathy (HC) and associated with adverse clinical outcomes, such as thromboembolisms. Cardiac implantable electronic devices (CIEDs) enable early detection of AF. The aim of this study was to assess the incidence of device-detected AF and the impact on long-term outcomes in patients with HC.

Value of Genetic Testing for the Prediction of Long-Term Outcome in Patients With Hypertrophic Cardiomyopathy.

Pathogenic gene mutations are found in about 50% of patients with hypertrophic cardiomyopathy (HC). Previous studies have shown an association between sarcomere mutations and medium-term outcome. The association with long-term outcome has not been described.