Genetic Testing in Hypertrophic Cardiomyopathy
Catherine G. Ireland, Carolyn Y. Ho
Abstract
Genetic testing is an important tool in the diagnosis and management of patients and families with hypertrophic cardiomyopathy (HCM). Modern testing can identify causative variants in 30 to >60% of patients, with probability of a positive test varying with baseline characteristics such as known family history of HCM. Patients diagnosed with HCM should be offered genetic counseling and genetic testing as appropriate. Standard multigene panels evaluate sarcomeric genes known to cause HCM as well as genetic conditions that can mimic HCM but require different management. Positive genetic testing (finding a pathogenic or likely pathogenic variant) helps to clarify diagnosis and assists in family screening. If there is high confidence that an identified variant is the cause of HCM, at-risk family members can pursue predictive testing to determine if they are truly at risk or if they can be dismissed from serial screening based on whether they inherited the family’s causative variant. Interpreting test results can be complex, and providers should make use of multidisciplinary teams as well as evidence-based resources to obtain the best possible understanding of pathogenicity. Genetic testing is an important tool in the diagnosis and management of patients and families with hypertrophic cardiomyopathy (HCM). Modern testing can identify causative variants in 30 to >60% of patients, with probability of a positive test varying with baseline characteristics such as known family history of HCM. Patients diagnosed with HCM should be offered genetic counseling and genetic testing as appropriate. Standard multigene panels evaluate sarcomeric genes known to cause HCM as well as genetic conditions that can mimic HCM but require different management. Positive genetic testing (finding a pathogenic or likely pathogenic variant) helps to clarify diagnosis and assists in family screening. If there is high confidence that an identified variant is the cause of HCM, at-risk family members can pursue predictive testing to determine if they are truly at risk or if they can be dismissed from serial screening based on whether they inherited the family’s causative variant. Interpreting test results can be complex, and providers should make use of multidisciplinary teams as well as evidence-based resources to obtain the best possible understanding of pathogenicity. Although hypertrophic cardiomyopathy (HCM) was recognized as a familial disease as early as 1949, it was only in the 1990s that its genetic etiology was clearly identified. Genetic linkage analysis in a large family with HCM revealed a pathogenic variant in cardiac myosin heavy chain beta (MYH7), leading to recognition of the importance of sarcomeric variants in the pathogenesis of disease.1Marian AJ Molecular genetic basis of hypertrophic cardiomyopathy.Circ Res. 2021; 128: 1533-1553Google Scholar, 2Watkins H MacRae C Thierfelder L Chou YH Frenneaux M McKenna W Seidman JG Seidman CE A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3.Nat Genet. 1993; 3: 333-337Google Scholar, 3Thierfelder L Watkins H MacRae C Lamas R McKenna W Vosberg HP Seidman JG Seidman CE α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.Cell. 1994; 77: 701-712Google Scholar Since then, numerous other sarcomere or sarcomere-related genes have been implicated in the etiology of HCM, and with current genetic testing, a pathogenic or likely pathogenic variant can be identified in approximately 30% of all-comers with HCM and >60% of patients with a family history of HCM.4Ommen SR Mital S Burke MA Day SM Deswal A Elliott P Evanovich LL Hung J Joglar JA Kantor P Kimmelstiel C Kittleson M Link MS Maron MS Martinez MW Miyake CY Schaff HV Semsarian C Sorajja P 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.J Am Coll Cardiol. 2020; 76: e159-e240Google Scholar Formal diagnosis of HCM hinges on identifying left ventricular hypertrophy (LVH) without alternate etiology. Because LVH is a feature of other conditions, it is useful to understand clues that prompt consideration of genetic HCM and HCM mimics; these are listed in Table 1.5Hershberger RE Givertz MM Ho CY Judge DP Kantor PF McBride KL Morales A Taylor MRG Vatta M Ware SM Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline.J Card Fail. 2018; 24: 281-302Google Scholar Although not required for diagnosis, genetic testing remains an important part of the diagnostic workflow for HCM and on can for families and clarify with a diagnosis of HCM should genetic counseling and be offered genetic SR Mital S Burke MA Day SM Deswal A Elliott P Evanovich LL Hung J Joglar JA Kantor P Kimmelstiel C Kittleson M Link MS Maron MS Martinez MW Miyake CY Schaff HV Semsarian C Sorajja P 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.J Am Coll Cardiol. 2020; 76: e159-e240Google RE Givertz MM Ho CY Judge DP Kantor PF McBride KL Morales A Taylor MRG Vatta M Ware SM Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline.J Card Fail. 2018; 24: 281-302Google Scholar genetic testing for HCM is with multigene panels that sarcomeric genes and genes to other that in cardiac RE Givertz MM Ho CY Judge DP Kantor PF McBride KL Morales A Taylor MRG Vatta M Ware SM Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline.J Card Fail. 2018; 24: 281-302Google Scholar Interpreting the test results can be complex, genetic counseling and to patients and families understanding of the and of these test for genetic RE Givertz MM Ho CY Judge DP Kantor PF McBride KL Morales A Taylor MRG Vatta M Ware SM Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline.J Card Fail. 2018; 24: 281-302Google from or in or or in cardiac Heart or in cardiac as in or for HCM and or or in a implicated in HCM are in genes of sarcomere variants in other genes are and as causative of in the sarcomere is the of it and Table Ho cardiomyopathy of on Scholar, L cardiomyopathy: Genetic and Res. 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