The aim of this study was to characterize cardiovascular involvement in a large number of
patients with LEOPARD syndrome. Twenty-six patients (age range 0 to 63 years, median age …

Background and Aims Very little information is available on whether docosahexaenoic acid (DHA)
supplementation has a beneficial effect on liver fat and cardiovascular disease (CVD) …

Transposition of great arteries (TGA) is one of the most common and severe congenital heart
diseases (CHD). It is also one of the most mysterious CHD because it has no precedent in …

In the last 20 years, nonalcoholic fatty liver disease (NAFLD) has become the leading cause
of chronic liver disease worldwide, primarily as a result of the epidemic of obesity. NAFLD is …

Cardiovascular disease in Down syndrome : Current Opinion in Pediatrics Cardiovascular
disease in Down syndrome : Current Opinion in Pediatrics Log in or Register Subscribe to …

Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars
of clinical diagnosis of 22q11.2 deletion syndrome (22q11.2DS) and still represent the main …

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of
cases are due to dominant mutations in COL1A1 and COL1A2 genes. To increase OI …

Background RASopathies are developmental disease caused by mutations in genes encoding
for signal transducers of the RAS-MAPK cascade. The aim of the present study was to …

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

Introduction: Advances in genetics allowed a better definition of the role of specific genetic
background in the etiology of syndromic congenital heart defects (CHDs). The identification of …