arrhythmogenic right ventricular dysplasia, familial, 14

Arrhythmogenic right ventricular dysplasia, familial, 14 is a cardiac condition that primarily affects the structure and electrical function of the right ventricle. Research has implicated variants in the CDH2 gene, which plays a critical role in cell adhesion and maintaining the integrity of heart muscle tissue. The condition is inherited in an autosomal dominant manner, meaning that a single altered copy of the gene can contribute to its development. Precise data on how common the condition is are not available, and its presentation can vary among affected individuals.

The clinical presentation of this condition is dominated by cardiac symptoms. Almost all affected individuals experience palpitations, while a significant proportion also report chest pain and electrical abnormalities such as left bundle branch block. Other features, including premature ventricular contractions, presyncope, and episodes of ventricular tachycardia, are observed in a subset of patients. Not all individuals experience every symptom, and severity varies considerably.

This condition is linked to changes in the CDH2 gene, which is essential for proper cell adhesion and the structural integrity of heart muscle. Disruption in the function of this gene is believed to contribute to abnormal development of the right ventricular myocardium, thereby predisposing individuals to the cardiac arrhythmias and structural changes observed. It is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the altered gene to each offspring. Variable expressivity is common, so family members carrying the same genetic change may experience a range of symptoms in terms of type and severity. Associated genes include CDH2.