Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom
Open Access
- 6 December 2018
- journal article
- research article
- Published by Oxford University Press (OUP) in European Heart Journal
- Vol. 40 (12), 986-993
- https://doi.org/10.1093/eurheartj/ehy798
Abstract
Understanding the spectrum of disease, symptom burden and natural history are essential for the management of children with hypertrophic cardiomyopathy (HCM). The effect of changing screening practices over time has not previously been studied. This study describes the clinical characteristics and outcomes of childhood HCM over four decades in a well-characterized United Kingdom cohort. Six hundred and eighty-seven patients with HCM presented at a median age of 5.2 years (range 0–16). Aetiology was: non-syndromic (n = 433, 63%), RASopathy (n = 126, 18.3%), Friedreich’s ataxia (n = 59, 8.6%) or inborn errors of metabolism (IEM) (n = 64, 9%). In infants (n = 159, 23%) underlying aetiology was more commonly a RASopathy (42% vs. 11.2%, P < 0.0001) or IEM (18.9% vs. 6.4% P < 0.0001). In those with familial disease, median age of presentation was higher (11 years vs. 6 years, P < 0.0001), 141 (58%) presented n = 20, 2.9%). Children diagnosed during infancy or with an IEM had a worse prognosis (5-year survival 80.5% or 66.4%). Arrhythmic events occurred at a rate of 1.2 per 100 patient years and were more likely in non-syndromic patients (n = 51, 88%). This national study describes a heterogeneous disease whose outcomes depend on the age of presentation and aetiology. Overall mortality and SCD rates have not changed over time, but they remain higher than in adults with HCM, with events occurring in syndromic and non-syndromic patients.Keywords
Funding Information
- British Heart Foundation (FS/16/72/32270)
- Max’s Foundation and Great Ormond Street Hospital Children’s Charity
- Great Ormond Street Hospital NHS Foundation Trust
- UCL Great Ormond Street Institute of Child Health
- NIHR
- Great Ormond Street Hospital Biomedical Research Centre
- NHS
- NIHR
- Department of Health
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