Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives
| العنوان: | Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives |
|---|---|
| المؤلفون: | Ellie Quinn, Ella Field, Juan Pablo Kaski, Elena Cervi, Hannah Fell, Joanna Jager, Perry M. Elliott, Gabrielle Norrish, Emma Lord, Marcos Cicerchia, Juan Pablo Ochoa |
| المصدر: | Circulation. 140:184-192 |
| بيانات النشر: | Ovid Technologies (Wolters Kluwer Health), 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Pediatrics, medicine.medical_specialty, Clinical screening, business.industry, Yield (finance), Hypertrophic cardiomyopathy, 030204 cardiovascular system & hematology, medicine.disease, Penetrance, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), medicine, 030212 general & internal medicine, Myocardial disease, First-degree relatives, Cardiology and Cardiovascular Medicine, business, Mass screening |
| الوصف: | 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 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. |
| تدمد: | 1524-4539 0009-7322 |
| DOI: | 10.1161/circulationaha.118.038846 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::e086db05519a91da0bd44114f4486fb9 https://doi.org/10.1161/circulationaha.118.038846 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi...........e086db05519a91da0bd44114f4486fb9 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15244539 00097322 |
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| DOI: | 10.1161/circulationaha.118.038846 |