This is a genotype with recommended actions if clinically confirmed. In brief:
- Familial hypertrophic cardiomyopathy (HCM) is a cardiac disorder characterized by hypertrophy, usually left ventricle hypertrophy (LVH), in the absence of other loading conditions. Clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), along with other symptoms.
- Genes that may have mutations leading to HCM include ACTC1, CSRP3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2 and TPM1.
- In all cases of HCM, clinicians should consider evaluation of patients in centers with multidisciplinary teams, with expertise in diagnosis, genetics, risk stratification, and management of heart muscle disease.
- It is reasonable to recommend an implantable cardioverter-defibrillator (ICD) for patients with one or more major risk factors for SCD.
- In individuals with pathogenic variants who do not express the HCM phenotype, it is recommended to perform serial electrocardiogram, transthoracic echocardiogram (TTE), and clinical assessment at periodic intervals (every 1 to 5 years in adults), based on the patient’s age and change in clinical status.
- Care should be taken to avoid high dose diuretics, venodilators, and arterial vasodilators to avoid vasodilation because these may exacerbate the degree of ventricular obstruction.
The full ClinGen Actionability report about Familial Hypertrophic Cardiomyopathy can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.