Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives

Circulation. 2019 Jul 16;140(3):184-192. doi: 10.1161/CIRCULATIONAHA.118.038846. Epub 2019 Apr 22.


Background: Hypertrophic cardiomyopathy (HCM) is a heritable myocardial disease with age-related penetrance. Current guidelines recommend clinical screening of relatives beginning at 10 years of age, but the clinical value of this approach has not been systematically evaluated.

Methods: Anonymized clinical data were collected from children referred for family screening between 1994 and 2017 after diagnosis of HCM in a first-degree relative.

Results: Of 1198 consecutive children (≤18 years of age) from 594 families who underwent serial evaluation (median, 3.5 years; interquartile range, 1.2-7), 32 individuals met diagnostic criteria at baseline (median maximal left ventricular wall thickness, 13 mm; interquartile range, 8-21 mm), and 25 additional patients developed HCM during follow-up. Median age at diagnosis was 10 years (interquartile range, 4-13 years); 44 (72%) were ≤12 years of age. Median age of affected patients at the last follow-up was 14 years (interquartile range, 9.5-18.2 years). A family history of childhood HCM was more common in those patients diagnosed with HCM (n=32 [56%] versus n=257 [23%]; P<0.001). Eighteen patients (32%) were started on medication for symptoms; 2 (4%) underwent a septal myectomy; 14 (25%) received an implantable cardioverter-defibrillator; 1 underwent cardiac transplantation; 2 had a resuscitated cardiac arrest; and 1 died after a cerebrovascular accident.

Conclusions: Almost 5% of first-degree child relatives undergoing screening meet diagnostic criteria for HCM at first or subsequent evaluations, with the majority presenting as preadolescents; a diagnosis in a child first-degree relative is made in 8% of families screened. The phenotype of familial HCM in childhood is varied and includes severe disease, suggesting that clinical screening should begin at a younger age.

Keywords: cardiomyopathies; child; death, sudden; genetics; mass screening.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Cardiomyopathy, Hypertrophic / diagnosis*
  • Cardiomyopathy, Hypertrophic / genetics*
  • Child
  • Child, Preschool
  • Family*
  • Female
  • Follow-Up Studies
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing / methods*
  • Genetic Testing / trends
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mass Screening / methods*
  • Mass Screening / trends
  • Retrospective Studies