SNP Shot: Genomic Insights

Familial restrictive cardiomyopathy is an inherited heart condition. A healthy heartbeat relies on the heart muscle's ability to contract and relax in a synchronized manner. The process begins with oxygenated blood flowing from the lungs into the heart's upper chambers (atria) and then proceeding to the lower chambers (ventricles).

In individuals with familial restrictive cardiomyopathy, the heart muscle becomes rigid, hindering its complete relaxation between contractions. This impaired relaxation causes blood to accumulate in the atria and lungs, ultimately decreasing the blood volume within the ventricles.

The onset of familial restrictive cardiomyopathy can occur from childhood through adulthood. In children, early indicators include a failure to thrive (inadequate weight gain and growth), severe fatigue, and fainting spells. Severely affected children may also exhibit edema (swelling), elevated blood pressure, an enlarged liver, ascites (fluid accumulation in the abdomen), and pulmonary congestion. Notably, some children may present with no apparent symptoms yet are at risk of sudden death due to heart failure. Sadly, without medical intervention, most affected children have a survival expectancy of only a few years following diagnosis.

Adults with familial restrictive cardiomyopathy commonly experience shortness of breath, fatigue, and decreased exercise tolerance as initial symptoms. Some may also develop arrhythmias (irregular heartbeats), accompanied by palpitations (a fluttering or pounding sensation in the chest) and dizziness. The formation of abnormal blood clots is frequently observed in adults with this condition. Untreated, approximately one-third of affected adults survive for no more than five years after being diagnosed.

Inheritance:

The inheritance pattern is autosomal dominant, indicating that the presence of a single altered gene copy in each cell is enough to cause the condition.