This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

In this scientific statement from the American Heart Association, experts in the field of
cardiomyopathy (heart muscle disease) in children address 2 issues: the most current …

Background—The goal of this statement is to review available literature and to put forth a
scientific statement on the current practice of fetal cardiac medicine, including the diagnosis …

The RASopathies are a group of disorders caused by a germline mutation in one of the
genes encoding a component of the RAS/MAPK pathway. These disorders, including …

The RASopathies are a clinically defined group of medical genetic syndromes caused by
germline mutations in genes that encode components or regulators of the Ras/mitogen …

RASopathies or RAS/mitogen-activated protein kinase (MAPK) syndromes are a group of
phenotypically overlapping syndromes caused by germline mutations that encode …

Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical
features in common with the other syndromes in this group, most notably Noonan syndrome …

Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by left
ventricular hypertrophy not solely explained by abnormal loading conditions. Despite its rare …

RASopathies are a group of developmental multisystemic disorders caused by germline
mutations in genes encoding signal transducers and regulatory proteins functionally linked …

Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS.
Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and …