Norrish, G; Jager, J; Field, E; Quinn, E; Fell, H; Lord, E; Cicerchia, MN; ... Kaski, JP; + view all Norrish, G; Jager, J; Field, E; Quinn, E; Fell, H; Lord, E; Cicerchia, MN; Ochoa, JP; Cervi, E; Elliott, PM; Kaski, JP; - view fewer Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives: Evidence for a Change in Paradigm. Circulation 10.1161/CIRCULATIONAHA.118.038846. (In press).

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Abstract

Background: Hypertrophic Cardiomyopathy (HCM) is a heritable myocardial disease with age related penetrance. Current guidelines recommend clinical screening of relatives from the age of 10 years onwards 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 1994-2017 following diagnosis of HCM in a first-degree relative. Results: 1198 consecutive children (aged ≤ 18 years) from 594 families underwent serial evaluation [median 3.5 years (IQR, 1.2-7)]; 32 individuals met diagnostic criteria at baseline (median maximal LV wall thickness (MLVWT) 13mm (IQR, 8-21mm)) and 25 additional patients developed HCM during follow up. Median age at diagnosis was 10 years (IQR 4-13); 44 (72%) were 12 years or younger. Median age of affected patients at last follow up was 14 years (IQR 9.5-18.2). A family history of childhood HCM was more common in those patients diagnosed with HCM (n=32, 56%, VS n=257, 23% P <0.001). 18 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 following 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 commence at a younger age

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