Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy

Area of Science:

• Cardiology
• Genetics
• Genomics

Background:

• Congenital heart disease (CHD) and cardiomyopathies are leading global causes of illness and death.
• Genetic factors significantly contribute to the development of these cardiac conditions.
• Genetic and genomic testing is now a standard diagnostic tool for patients with CHD and cardiomyopathy.

Purpose of the Study:

• To review the clinical utility of genetic evaluation in patients diagnosed with CHD and cardiomyopathy.
• To summarize current literature on the benefits and applications of genetic testing in cardiac care.
• To address the evolving landscape of genetic testing recommendations due to technological advancements.

Main Methods:

• Systematic review of recent literature.
• Analysis of studies investigating the utility of genetic testing in CHD and cardiomyopathy.
• Synthesis of findings on the impact of genetic evaluation on patient management.

Main Results:

• Genetic testing identifies specific causes, enabling targeted screening and early interventions.
• Results inform prognosis, treatment selection, and familial risk assessment.
• The review highlights the increasing importance and evolving recommendations for genetic testing in cardiology.

Conclusions:

• Genetic and genomic testing provides essential information for comprehensive patient care in CHD and cardiomyopathy.
• Understanding genetic underpinnings allows for personalized medicine approaches.
• This review underscores the established role and ongoing evolution of genetic evaluation in managing cardiac diseases.