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Hypertrophic cardiomyopathy screening urged to continue into adulthood
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After 12 years of follow-up, the penetrance of hypertrophic cardiomyopathy in phenotype-negative but at-risk child relatives was 6%, according to recent study data published in Circulation.
Ninety patients and 361 relatives participated in a family genetic screening program for hypertrophic cardiomyopathy from 1994 to 2001(<18 years: four patients and 66 relatives). Screening was performed for 11 sarcomere genes, CRYAB, alpha-GAL and Titin.
Twelve child relatives were mutation carriers (mean age, 12 years). Twenty-six had unknown genetic status, including relatives who were not tested (n=5) or were from families without identified mutations (n=21).
After 12 years, two of 36 child relatives at risk for hypertrophic cardiomyopathy who were negative for the phenotype at inclusion developed the phenotype at age 26 and 28 years.
“The finding of phenotype conversions in the mid-20s warrants continued screening to extend into adulthood,” researchers wrote in the study.
In other results, 42% of child relatives were noncarriers of the hypertrophic cardiomyopathy phenotype. “Repeated clinical follow-up could safely be limited to the remaining children,” according to the researchers.
No child relatives experienced CV symptoms or events during follow-up. Additionally, the family genetic screening program appeared to have no effect on anxiety, depression, type D personality or overall psychological impact.
Disclosure:The researchers report no relevant financial disclosures.
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