Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?
Why the study?
The effectiveness of clinical genetic testing for HCM has been hampered by ambiguous genetic associations, difficulties in variant classification, and uncertainty about genotype-negative patients.
Design
Review
Authors
Discussion
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Member takes
Implication
Supports limiting HCM genetic testing to validated genes; leaves open prospective validation of non-Mendelian prognosis.
Structured PICO
P
Population
Patients with hypertrophic cardiomyopathy (HCM) and their at-risk relatives
I
Intervention
Clinical genetic testing
Clinical genetic testing for HCM should focus on a small number of validated disease genes to improve variant interpretation and reduce ambiguous results.
Cite This Study
Mazzarotto et al. (2020) studied this question.