Hypertrophic Cardiomyopathy: Distribution of Disease Genes, Spectrum of Mutations, and Implications for a Molecular Diagnosis Strategy

By P. Richard, P. Charron, L. Carrier, C. Ledeuil, T. Cheav, C. Pichereau, A. Benaiche, R. Isnard, O. Dubourg, M. Burban and 6 more. 2003

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Genetic Misdiagnoses and the Potential for Health Disparities (2016, background): “MYBPC3 (G278E) Richard et al.(24) Targeted gene sequencing of unrelated cases and controls‡ 197 100 No No France Yes”
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). (2011, background): “org 26 common, each accounting for one quarter to one third of all cases, with the remaining HCM genes each contributing 1 to 5% or less.(160) Within each gene, most individual mutations are rare and indeed are frequently unique to single families.”
Reassessment Of Mendelian Gene Pathogenicity Using 7,855 Cardiomyopathy Cases And 60,706 Reference Samples (2016, result): “clinical sensitivity (proportion of patients with a pathogenic variant) in our case series was lower than earlier surveys that may reflect more restricted testing of stringently selected cases, typically from multiply-affected families with severe disease (38, 39).”