Congenital heart disease is the most common type of birth defect, affecting nearly 40,000 infants annually, according to the Centers for Disease Control and Prevention. Structural or functional congenital heart defects can disrupt circulation, increase the risk of heart failure and limit the victim’s physical capabilities. A new study may yield better understanding of one congenital heart defect, which appears genetically influenced.
Harmful genetic variations
Researchers from the U.K. surveyed over half a million genetic markers to find associations between specific genes and congenital heart defects. The study included 2,000 people with diagnosed congenital heart disease and 5,600 healthy people.
Researchers found a strong correlation between a genetic variation near the Msx1 gene and atrial septic defect. This defect is a hole in the wall separating the two upper chambers of the heart. This condition allows blood to leak between the chambers, raising the risk of heart failure. It can also contribute to pulmonary hypertension, arrhythmia or stroke.
Researchers could not identify genetic markers associated with other congenital heart defects. However, they believe larger future studies could identify markers related to other defects. These findings could contribute to a better understanding of healthy heart development and regenerative medicine. In the future, families with identified markers could also benefit from genetic counseling.
Toll of congenital defects
Mild cases of congenital heart disease may be barely detectable. Severe cases, however, may significantly interfere with daily life. People who cannot work due to this condition may qualify for Social Security Disability benefits.
The Social Security Administration includes cyanotic and acyanotic congenital heart disease in its “Blue Book” of impairment listings. People who meet listing terms automatically qualify medically for SSD benefits. The SSA requires congenital heart disease to be documented through cardiac catheterization or other medically acceptable tests. Additionally, it must cause one of three complications:
- Cyanosis, or blue skin tone due to oxygen shortage. This must be accompanied by one of the following: hematocrit levels over 55 percent, arterial oxygen saturation less than 90 percent or plasma oxygenation falling under 60 Torr at rest.
- Sporadic wrong-way blood flow. This must cause cyanosis during moderate physical activity or plasma oxygenation under 60 Torr during brisk movement.
- Secondary pulmonary obstructive vascular disease. Systolic arterial pressure in the lungs must be raised to over 70 percent of the body’s general systolic arterial pressure.
If these criteria are not satisfied, victims of congenital heart disease may still prove the condition prevents gainful employment. A physician-completed Residual Functional Capacity evaluation can describe the ways the disabling condition limits the victim in performing work-related tasks. If the limitations are severe enough to prevent any form of gainful employment, the SSA will grant a medical-vocational allowance and award benefits.
