Clinical screening of child first-degree relatives of patients with hypertrophic cardiomyopathy yielded a diagnosis in 4.76% of children, with the majority presenting as preadolescents.
Cohort (n=1,198)
What is the yield of clinical screening for hypertrophic cardiomyopathy in child first-degree relatives?
Clinical screening of child first-degree relatives of HCM patients yields a diagnosis in nearly 5%, predominantly in preadolescents, suggesting that screening should begin at a younger age than the currently recommended 10 years.
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.
Norrish et al. (Mon,) conducted a cohort in Hypertrophic cardiomyopathy (n=1,198). Clinical screening was evaluated on Diagnosis of hypertrophic cardiomyopathy. Clinical screening of child first-degree relatives of patients with hypertrophic cardiomyopathy yielded a diagnosis in 4.76% of children, with the majority presenting as preadolescents.
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