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Article

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

3 Aug 2017

Abstract excerpt

INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic value of screening for minor and candidate genes, and the role of copy number variants (CNVs) deserves further evaluation. METHODS: Three hundred and eighty-seven consecutive unrelated patients with HCM were screened for genetic variants...

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PMID: 28771489
DOI: 10.1371/journal.pone.0181465

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