Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.

IF 1.6 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS

Future cardiology Pub Date : 2025-04-09 DOI:10.1080/14796678.2025.2484128

Quan M Bui, Elizabeth Silver, Alessia Argiro, Sarah Murray, Lauren Korty, Jorge Silva Enciso, Marcus A Urey, Neil C Chi, Kimberly N Hong, Eric D Adler

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Abstract

Background: Genetic testing (GT) is clinically indicated for patients with suspected inherited cardiomyopathy (CM) but is underutilized.

Methods: This single-center study included patients with CM who underwent outpatient GT from 2018 to 2023. Data were collected from the medical record.

Results: A total of 306 patients were included, with a mean age of 62 years and were predominantly male (63%) and White (59%). Heart failure (92%) cardiologists were most likely to order testing, followed by general cardiology (5%) providers at tertiary hospital clinics (89%). The most common phenotypes were hypertrophic (30%), amyloid (29%) and dilated (21%). There were 17% of patients who had a positive test and 53% of patients who had a variant of uncertain significance. Patients with a positive family history had a significantly higher positive yield compared to those without (p < 0.01). Genetic counselors were underutilized (17%). For patients who had a positive test result, only 40% had cascade screening.

Conclusions: Outpatient GT for CM was primarily ordered by heart failure cardiologists in tertiary hospital clinics. Cascade screening was low, which may reflect the limited use of genetic counselors. Further research is needed to understand implementation barriers to GT.

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来源期刊

Future cardiology CARDIAC & CARDIOVASCULAR SYSTEMS-

CiteScore

2.80

自引率

5.90%

发文量

期刊介绍： Research advances have contributed to improved outcomes across all specialties, but the rate of advancement in cardiology has been exceptional. Concurrently, the population of patients with cardiac conditions continues to grow and greater public awareness has increased patients" expectations of new drugs and devices. Future Cardiology (ISSN 1479-6678) reflects this new era of cardiology and highlights the new molecular approach to advancing cardiovascular therapy. Coverage will also reflect the major technological advances in bioengineering in cardiology in terms of advanced and robust devices, miniaturization, imaging, system modeling and information management issues.