Congenital Heart Disease Genetic

Understanding Congenital Heart Disease and Genetics

Congenital heart disease (CHD) refers to structural heart defects present at birth. While some cases occur in isolation, many have a genetic cause. Advances in genetics now allow us to identify inherited or syndromic forms of CHD, which can improve diagnosis, guide treatment, and help families understand recurrence risks.

At the MD Genetic Clinic, we aim to identifying the underlying genetic cause. We can also recognize family members who may be at risk and ensure early monitoring, intervention, and personalized care.

Genetic Testing for Congenital Heart Disease

The genetic panel we offer at the MD Genetic Clinic analyzes genes associated with both isolated and syndromic congenital heart defects, including some that overlap with conditions such as heterotaxy and situs inversus. This testing can establish a clear diagnosis and eliminate the need for sequential single-gene testing.

A congenital heart disease genetic diagnosis at MD Genetic Clinic can:

• Confirm or clarify a suspected diagnosis

• Guide further evaluations and screenings

• Inform medical and surgical management

• Provide recurrence risk counseling for families

Genetic Testing for Congenital Heart Disease at MD Genetic Clinic Includes:

• Alagille syndrome

• Alström syndrome

• Cardio-facio-cutaneous syndrome (CFC)

• Char syndrome

• CHARGE syndrome

• Costello syndrome

• Holt-Oram syndrome

• Noonan spectrum disorders (Noonan syndrome, NSML, Noonan syndrome with loose anagen hair)

• Oculo-facio-cardio-dental syndrome (OFCD)

• Simpson-Golabi-Behmel syndrome (SGBS)

• Sotos syndrome

• Heterotaxy and related conditions