SNP Shot: Genomic Insights

Supravalvular aortic stenosis (SVAS) is a congenital heart condition present at birth. It involves a narrowing (stenosis) of the aorta, the major blood vessel that transports blood from the heart to the body. The term "supravalvular" indicates that the narrowing occurs just above the aortic valve, which is the valve connecting the aorta to the heart. Some individuals with SVAS may also have abnormalities in other blood vessels, most frequently a narrowing of the pulmonary artery, which carries blood from the heart to the lungs. A heart murmur, an unusual sound detected during a heartbeat, is often audible during a physical examination of the chest. Without treatment, the aortic narrowing in SVAS can cause shortness of breath, chest discomfort, and eventually, heart failure.

The degree of severity in SVAS can vary greatly, even within the same family. Some affected infants may die, while others may remain asymptomatic throughout their lives.

Inheritance:

SVAS is typically inherited in an autosomal dominant manner. This means that having only one copy of the mutated gene in each cell is enough to cause the condition. However, some people who inherit the mutated gene do not develop the features of SVAS, a phenomenon known as reduced penetrance. In some instances, an individual inherits the mutation from a parent who carries the altered gene. In other cases, the condition arises from a new gene mutation and occurs in individuals with no family history of SVAS.