Hypertrophic cardiomyopathy laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Soroush Seifirad, M.D.[2]

Overview

Genetic studies may be used in the diagnosis and screening of patients and families with known hypertrophic cardiomyopathy (HCOM). Laboratory findings consistent with the diagnosis of hypertrophic cardiomyopathy may include but not limited to mutations in the genes involved in Beta-myosin heavy chain, Myosin binding protein C, and Cardiac troponin T. Genes involved in the pathogenesis of hypertrophic cardiomyopathy include MYH7, TNNT2, and TPM1.

Laboratory Findings

Genetic studies may be used in the diagnosis and screening of patients and families with known hypertrophic cardiomyopathy (HCOM). Laboratory findings consistent with the diagnosis of hypertrophic cardiomyopathy may include but not limited to mutations in the genes involved in Beta-myosin heavy chain, Myosin binding protein C, and Cardiac troponin T. Genes involved in the pathogenesis of hypertrophic cardiomyopathy include MYH7, TNNT2, and TPM1.

ESC recommendations for genetic counseling and testing

• 1. Genetic counseling by trained professionals working within a multidisciplinary specialist team is recommended for all patients with HCM when their disease cannot be explained solely by a non-genetic cause.
• 2. Genetic testing is recommended in patients fulfilling diagnostic criteria for HCM when it enables cascade genetic screening of their relatives.
• 3. First degree relatives should be provided with information about the consequences of diagnosis for life insurance, pension, occupation, sporting activities, and eligibility for fostering and adoption before they undergo genetic testing or clinical evaluation.
• 4. When a definite causative genetic mutation is identified, relatives should be first genetically tested and then clinically evaluated if they are found to carry the same mutation.
• 5. When genetic testing cannot be performed or fails to identify a definite mutation, first degree relatives should be offered clinical screening with an ECG and echocardiogram which is then repeated every 1-2 years between 10 and 20 years of age and then every 2-5 years thereafter.
• 6. Clinical and genetic testing of children should be guided by the best interests of the child and consider potential benefits and harms such as compromised life insurance prospects.