Sarcomere Protein Gene Mutations in Hypertrophic Cardiomyopathy of the Elderly

By H. Niimura, Kristen K. Patton, W. McKenna, J. Soults, B. Maron, J. Seidman, C. Seidman. 2002

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Genetic Misdiagnoses and the Potential for Health Disparities (2016, background): “TNNI3 (P82S) Niimura et al.(23) Targeted gene sequencing of unrelated cases and controls† 31 85 No No United States Yes”
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands (2017, neutral): “Dominant MYH6 mutations are implicated in atrial septal defect 23 and cardiomyopathy 24, 25 .”
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice G (2003, background): “Hypertrophic cardiomyopathy attributable to sarcomere protein mutations also occurs in the elderly (139) and should be distinguished from non-genetic hypertensive heart disease or age-related changes in persons of advanced age.”
Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. (2017, background): “The modifier variants, unlike the causal mutations, are neither necessary nor sufficient to cause HCM.”