Down's syndrome and the pattern of congenital heart disease in a community with high parental consanguinity.

Background: It is speculated that parents' consanguinity status effects the pattern of congenital heart defects (CHDs). In this study the CHD pattern in children with Down's syndrome (DS) was determined in a Saudi population with a high consanguineous marriage rate and compared with historical cohorts from populations with low prevalence of parental consanguinity.

Material/methods: The prospective study was conducted in an open-access pediatric echocardiography clinic in Riyadh, Saudi Arabia.

Arrhythmogenic right ventricular cardiomyopathy in an 11-year-old girl and typical echocardiographic features.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare entity that affects children as well as adults. This is a genetic disorder that can be inherited and whose hallmark is fibrofatty replacement of ventricular muscle, especially of the right side, with ventricular arrhythmias and progressive heart failure. We describe a case of an 11-year-old Saudi girl with ARVC and the echocardiographic characteristics that had been highlighted by the Taskforce for ARVC, and we suggest that a concurrent criterion be added to aid further echo identification in children.