Abstract
Hypertrophic cardiomyopathy (HCM) is caused by a dominant mutation of the sarcomere protein gene in approximately 60% of cases. Genetic testing of HCM has several benefits. Diagnosis can be confirmed if the sarcomere protein gene mutation is identified. Genetic testing enables to follow-up blood relatives who are mutationpositive only, and can identify asymptomatic and non-onset patients. Relatives with negative results of genetic testing could be freed from anguish. On the other hand, genetic testing has some disadvantages. Treatment often does not change after testing. Forty percent of cases has unknown causative genes. Relationship between gene mutation and clinical findings or treatment responsiveness is little known, and so on. Many issues need to be resolved to incorporate genetic diagnosis into daily practice for HCM. However, genetic testing for HCM cannot be regarded as unnecessary and expensive debauchery, but rather represents a valuable measure in the medical facilities. Although there still remain questions about genetic diagnosis of HCM, accumulated knowledge to date is fairly enough to establish the genetic testing as a useful tool for individualized management of HCM patients and their families.
Highlights
Hypertrophic cardiomyopathy (HCM) with left ventricular hypertrophy of unknown cause accounts for approximately one third of sudden cardiac deaths in young athletes [1]
We believe that sudden death in young people due to this disease could be reduced if a system were to be established to genetically test patients and blood relatives to make diagnosis prior to the onset of symptoms
TNNT2 mutations are often associated with sudden cardiac death despite mild ventricular hypertrophy [4,5]
Summary
Hypertrophic cardiomyopathy (HCM) with left ventricular hypertrophy of unknown cause accounts for approximately one third of sudden cardiac deaths in young athletes [1]. We believe that sudden death in young people due to this disease could be reduced if a system were to be established to genetically test patients and blood relatives to make diagnosis prior to the onset of symptoms
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