Decoding the Genetics of Pulmonary Arterial Hypertension with Congenital Heart Disease

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Understanding Pulmonary Arterial Hypertension and Congenital Heart Disease

Pulmonary arterial hypertension (PAH) is a rare and progressive disorder characterized by increased blood pressure in the pulmonary arteries, which carry blood from the heart to the lungs. This increase in pressure can lead to shortness of breath, dizziness, and even heart failure. Congenital heart disease (CHD) refers to a range of birth defects that affect the structure and function of the heart. When PAH is associated with CHD, it is referred to as PAH-CHD and can lead to a severe and life-threatening condition.

Diagnosing PAH-CHD: The Role of Genetic Testing

Recent studies have shown that genetic factors can play a significant role in the development of PAH-CHD. By understanding these genetic factors, healthcare providers can better diagnose and manage the condition. Genetic testing can help identify the specific genes involved in PAH-CHD, which can then guide treatment decisions and inform patients about their risk of developing the disease.

Identifying SOX17 as a Novel Candidate Risk Gene

A recent study published in Genome Medicine has identified the SOX17 gene as a novel candidate risk gene for PAH-CHD. This gene is believed to contribute to approximately 3.2% of cases. By testing for SOX17 mutations, healthcare providers can identify individuals at risk for PAH-CHD and monitor them closely for any signs of the disease.

Understanding the Role of FLNA Mutation in PAH-CHD

Another study published in BMC Pediatrics highlights the role of FLNA mutation in causing progressive PAH in pediatric patients with congenital heart disease and other comorbidities. Identifying this mutation can help healthcare providers determine the appropriate course of action for managing PAH-CHD in children.

Exploring the Connection Between BMPR2 Mutation and PAH-CHD

A study published in the European Respiratory Journal provides evidence that amfepramone, a weight loss drug, can trigger primary pulmonary hypertension in individuals carrying a BMPR2 gene mutation. By testing for this mutation, healthcare providers can identify patients at risk for developing PAH-CHD and advise them to avoid certain medications that may exacerbate their condition.

Therapeutic Options for PAH-CHD

While there is currently no cure for PAH-CHD, several treatment options are available to manage the condition and improve the quality of life for affected individuals. A review article published in Herz discusses potential genetic causes of pulmonary hypertension and possible treatment options. These options include:

• Medications to help relax the blood vessels and improve blood flow
• Oxygen therapy to increase the amount of oxygen in the blood
• Anticoagulant medications to prevent blood clots
• Diuretics to reduce fluid retention and swelling
• Heart or lung transplant for severe cases

Conclusion

Genetic testing plays a crucial role in understanding, diagnosing, and managing pulmonary arterial hypertension associated with congenital heart disease. By identifying the specific genes involved in PAH-CHD, healthcare providers can make informed decisions about treatment options and help patients better understand their risk of developing the disease. As research continues to uncover more about the genetics of PAH-CHD, we can hope for improved diagnostic tools and more effective treatments in the future.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)