Mammalian models including non‐human primates, pigs and rodents have been used
extensively to study the mechanisms of cardiovascular disease. However, there is an …

Noonan syndrome and related disorders (Noonan syndrome with multiple lentigines,
Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with loose anagen …

We used established databases in standard ways to systematically characterize gene
ontologies, pathways and functional linkages in the large set of genes now associated with …

RASopathies are a family of developmental disorders that share germline mutations in the
components of the RAS-MAPK pathway leading to dysregulated signalling. A high …

Dilated cardiomyopathy is a disease of the myocardium characterized by left ventricular
dilatation and/or dysfunction, affecting both adult and pediatric populations. Almost half of …

Background Pediatric dilated cardiomyopathy (DCM) is a well‐known clinical entity;
however, phenotype–genotype correlations are inadequately described. Our objective was …

In the last few decades, many pathogenic or likely pathogenic genetic mutations in over
hundred different genes have been described for non-ischemic, genetic cardiomyopathies …

Cardiac disease in Noonan syndrome varies according to the type of gene mutation. The
most common forms of cardiac disease include pulmonary stenosis, HCM, and atrial septal …

Dilated cardiomyopathy is a rare cardiac disease characterized by left ventricular dilatation
and systolic dysfunction leading to heart failure and sudden cardiac death. Currently …

Hypertrophic cardiomyopathy (HCM) is defined by structural and functional abnormalities of
the ventricular myocardium leading to increased left ventricular (LV) wall thickness. It was …