Key result
Genetic and genomic testing guides screening, early intervention, and treatment in CHD and cardiomyopathy.
Why the study?
Rapid advances in technology and expanding testing options have changed recommendations for the most appropriate genetic testing methods in CHD and cardiomyopathy.
Genetic and genomic testing is the standard of care for patients with congenital heart disease and cardiomyopathy, offering significant clinical utility for patient management and family risk assessment.
Supports genetic testing consideration in congenital heart disease and cardiomyopathy; leaves open prospective trials for practice change.
Congenital heart disease (CHD) and cardiomyopathies are the leading cause of morbidity and mortality worldwide. These conditions are often caused by genetic factors, and recent research has shown that genetic and genomic testing can provide valuable information for patient care. By identifying genetic causes, healthcare providers can screen for other related health conditions, offer early interventions, estimate prognosis, select appropriate treatments, and assess the risk for family members. Genetic and genomic testing is now the standard of care in patients with CHD and cardiomyopathy. However, rapid advances in technology and greater availability of testing options have led to changes in recommendations for the most appropriate testing method. Several recent studies have investigated the utility of genetic testing in this changing landscape. This review summarizes the literature surrounding the clinical utility of genetic evaluation in patients with CHD and cardiomyopathy.
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Pidaparti et al. (2024) conducted a review in Congenital heart disease and cardiomyopathy. Genetic and genomic testing was evaluated. Genetic and genomic testing provides valuable clinical utility for patients with congenital heart disease and cardiomyopathy by guiding screening, early interventions, prognosis, and treatment.
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