…variable expression A pathogenic variant does not invariably result in clinical disease. Penetrance is incomplete and age dependent, and the severity and manifestations of disease…

…induces expression of aldosterone responsive genes. Although the kidney is a major target—where MR activation promotes sodium transport—MRs are also present in cardiac…

…The principal genetic mechanisms involve: Loss of function variants in the LDL receptor gene, LDLR, which account for most cases. Variants in APOB that impair…

…reason for which remains elusive. Gene mutations can be confirmed in roughly 60% of individuals with ARVC. Mutations in the desmosomal gene PKP2 is the…

…associated with the Brugada syndrome. These mutations are located in genes encoding potassium and calcium channels of the outer cell membrane. Clinical presentation of Brugada…

…years). Another 9 affected individuals were presented in the study. All genetic tests, using gene panels for known gene mutations for cardiovascular disease, were negative…

…A history of increasing frequency of hospitalizations and visits for heart failure without disease recognition in the 3 years preceding diagnosis is also a notable…

…required thousands of observational studies, genetic studies and randomized controlled clinical trials. This knowledge has been translated into remarkable advances in the management of coronary…

…the gene encoding the alpha subunit of the cardiac voltage gated sodium channel (Nav1.5) [6] . Loss of function (LOF) mutations in SCN5A lead to…

…More than 100 genes have been implicated in dilated cardiomyopathy. The majority of these encode proteins in the sarcomere, Z disk or the cytoskeleton (Herschberger…