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Last Posted: Oct 06, 2022
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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo Lisa M et al. JAMA cardiology 2022 8

In this cohort study of 4782 patients with a suspected genetic cardiomyopathy or arrhythmia, combined cardiomyopathy and arrhythmia testing revealed clinically relevant variants in 1 in 5 patients, and 66.0% of patients with positive findings had potential clinical management implications. The combined testing approach captured 10.9% of patients who would have been missed if genetic testing had been restricted to a specific suspected disease subtype.

Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank.
Biddinger Kiran J et al. JAMA cardiology 2022 5

What are the contributions of rare and common genetic variation to risk of hypertrophic cardiomyopathy (HCM)? In this cohort study, rare variants in 14 genes prioritized by the American College of Medical Genetics and Genomics conferred the greatest risk of HCM, while a common variant (polygenic) score accounted for the greatest proportion of HCM susceptibility. Together, rare variants and the polygenic score enhanced the prediction of incident HCM when added to clinical factors.

Mortality Among Patients With Early-Onset Atrial Fibrillation and Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Yoneda Zachary T et al. JAMA cardiology 2022 5

In this cohort study of 1293 participants diagnosed with AF before 66 years of age, time to death was significantly associated with a disease-associated variant, age at AF diagnosis, and the interaction between age at AF diagnosis and variant status. The findings suggest that among patients with early-onset AF, the presence of a disease-associated rare variant for an inherited cardiomyopathy or arrhythmia syndrome may be associated with an increased risk of mortality.

Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.
Patel Aniruddh P et al. JAMA cardiology 2022 5

In this genetic association study of 9667 participants in the US (Atherosclerosis in Risk Communities [ARIC]) and 49?744 participants in the UK (UK Biobank), a pathogenic or likely pathogenic variant for inherited cardiomyopathy was identified in 0.61% of ARIC participants and 0.73% of UK Biobank participants. These individuals were at 1.7- to 2.1-fold increased risk of heart failure, 2.1- to 2.9-fold increased risk of atrial fibrillation, and 1.5- to 1.7-fold increased risk of all-cause mortality, and they were not reliably identified by imaging. These results suggest that 0.7% of participants harbor a pathogenic variant related to inherited cardiomyopathy and are at increased risk of cardiovascular morbidity and all-cause mortality.

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