SNP Shot: Genomic Insights

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart condition typically diagnosed in adults. It's characterized by damage to the myocardium, the heart's muscular wall. This damage leads to the progressive breakdown of heart muscle, elevating the risk of irregular heart rhythms (arrhythmias) and, in severe cases, sudden cardiac death.

In its initial phases, ARVC might be asymptomatic. Despite the absence of symptoms, individuals with ARVC remain vulnerable to sudden death, particularly during intense physical activity. Symptomatic individuals often experience palpitations (a feeling of fluttering or forceful beating in the chest), dizziness, and fainting episodes (syncope). As ARVC progresses, it can result in shortness of breath and edema (swelling) in the lower extremities or abdomen. Advanced stages of the disease can severely compromise the myocardium, potentially leading to heart failure.

Inheritance:

ARVC exhibits a familial tendency in approximately 50% of cases. Most inherited instances follow an autosomal dominant inheritance pattern, meaning that a single mutated copy of a gene is enough to cause the condition. In rarer cases, ARVC displays an autosomal recessive inheritance pattern, requiring mutations in both copies of a gene within each cell for the disease to manifest. Individuals with an autosomal recessive form of ARVC inherit one mutated gene copy from each parent, who are typically asymptomatic carriers of the mutation.