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Eur Heart J. 2019 Jun 6. pii: ehz396. doi: 10.1093/eurheartj/ehz396. [Epub ahead of print]

Family screening for hypertrophic cardiomyopathy: Is it time to change practice guidelines?

Author information

1
Department of Surgery, Cardiovascular Data Management Centre, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
2
Department of Pediatrics, Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
3
Department of Pediatrics, The Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria 3052, Australia.

Abstract

AIMS:

Current guidelines recommend initiating family screening for hypertrophic cardiomyopathy (HCM) after age 10 or 12 years unless early screening criteria are met. The aim was to evaluate if current screening guidelines miss early onset disease.

METHODS AND RESULTS:

Children who underwent family screening for HCM before age 18 years were analysed. Major cardiac events (MaCEs) were defined as death, sudden cardiac death (SCD), or need for major cardiac interventions (myectomy, implantable cardioverter-defibrillator insertion, transplantation). Of 524 children screened, 331 were under 10 years of age, 9.9% had echocardiographic evidence of HCM, and 1.1% were symptomatic at first screening. The median (interquartile range) age at HCM onset was 8.9 (4.7-13.4) years, and at MaCE was 10.9 (8.5-14.3) years with a median time to MaCE from HCM onset of 1.5 (0.5-4.1) years. About 52.5% phenotype-positive children and 41% with MaCEs were <10 years old. Only 69% children with early HCM met early screening criteria. Cox regression identified male gender, family history of SCD, and pathogenic variants in MYH7/MYBPC3 as a predictor of early onset HCM and MaCEs.

CONCLUSION:

A third of children not eligible for early screening by current guidelines had phenotype-positive HCM. MYH7 and MYBC3 mutation-positive patients were at highest risk for developing early HCM and experiencing an event or requiring a major intervention. Our findings suggest that younger family members should be considered for early clinical and genetic screening to identify the subset in need of closer monitoring and interventions.

KEYWORDS:

Family screening; Hypertrophic cardiomyopathy; Implantable cardioverter-defibrillator; Sarcomeric mutations; Sudden cardiac death

PMID:
31170284
DOI:
10.1093/eurheartj/ehz396

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