Dilated cardiomyopathy is defined by the presence of left ventricular dilatation and
contractile dysfunction. Genetic mutations involving genes that encode cytoskeletal …

Genetic mutations account for a significant percentage of cardiomyopathies, which are a
leading cause of congestive heart failure. In hypertrophic cardiomyopathy (HCM), cardiac …

Purpose The 2015 American College of Medical Genetics and Genomics–Association for
Molecular Pathology (ACMG–AMP) guidelines were a major step toward establishing a …

Remarkable progress has been made in understanding the genetic basis of dilated
cardiomyopathy (DCM). Rare variants in> 30 genes, some also involved in other …

Dilated cardiomyopathy is characterised by left ventricular dilation that is associated with
systolic dysfunction. Diastolic dysfunction and impaired right ventricular function can …

A great deal of progress has recently been made in the discovery and understanding of the
genetics of familial dilated cardiomyopathy (FDC). A consensus has emerged that with a …

Over the last 2 decades, the pathogenic basis for the most common heritable cardiovascular
disease, hypertrophic cardiomyopathy (HCM), has been investigated extensively. Affecting …

Substantial progress has been made recently in understanding the genetic basis of
cardiomyopathy. Cardiomyopathies with known genetic cause include hypertrophic (HCM) …

Cardiomyopathies (ie, diseases of the heart muscle) are major causes of morbidity and
mortality. A significant percentage of patients with cardiomyopathies have genetic-based …

The spectrin superfamily of proteins plays key roles in assembling the actin cytoskeleton in
various cell types, crosslinks actin filaments, and acts as scaffolds for the assembly of large …