Genetic considerations for adults with congenital heart disease

Area of Science:

• Cardiology
• Genetics
• Pediatrics

Background:

• Congenital heart disease (CHD) is the most common birth defect, affecting approximately 1% of all births.
• Advances in medical care have led to a growing population of adults with CHD, with survival rates exceeding 90% into adulthood.
• The genetic underpinnings of CHD are complex, including chromosomal abnormalities and single gene mutations, yet the etiology remains unknown in 70-80% of cases.

Purpose of the Study:

• To highlight the increasing importance of genetics in the care of adult congenital heart disease (CHD) patients.
• To emphasize the need for genetic counseling for adults with CHD to understand disease etiology and recurrence risks.
• To advocate for a multidisciplinary approach in managing adult CHD patients.

Main Methods:

• Review of current literature on the genetic causes of CHD.
• Discussion of the role of genetic counseling in adult CHD care.
• Exploration of emerging precision medicine approaches.

Main Results:

• Genetic factors contribute significantly to CHD, with categories including chromosomal aneuploidy, deletions/duplications, single gene mutations, and copy number variations.
• A substantial proportion of CHD cases lack a defined etiology, underscoring the need for further genetic research.
• Genetic counseling is becoming increasingly vital for adult CHD patients and their families.

Conclusions:

• The role of genetics in adult CHD is expanding, necessitating specialized genetic counseling.
• A multidisciplinary approach integrating genetic expertise is essential for comprehensive adult CHD care.
• Precision medicine holds promise for individualized therapies in the management of adult CHD.