Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom
File(s)
Published version
Author(s)
Type
Journal Article
Abstract
Aims: 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. Methods and results: 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 <12 years. Freedom from death or transplantation was 90.6% (87.9-92.7%) at 5 years (1.5 per 100 patient years) with no era effect. Mortality was most frequently sudden cardiac death (SCD) (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%). Conclusion: 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.
Date Issued
2019-03-21
Date Acceptance
2018-11-07
Citation
European Heart Journal, 2019, 40 (12), pp.986-993
ISSN
1522-9645
Publisher
Oxford University Press (OUP)
Start Page
986
End Page
993
Journal / Book Title
European Heart Journal
Volume
40
Issue
12
Copyright Statement
© The Author(s) 2018. Published by Oxford University Press on behalf of the European Society of Cardiology.This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestrictedreuse, distribution, and reproduction in any medium, provided the original work is properly cited.
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/30535072
PII: 5232549
Subjects
Science & Technology
Life Sciences & Biomedicine
Cardiac & Cardiovascular Systems
Cardiovascular System & Cardiology
Hypertrophic cardiomyopathy
United Kingdom
Survival
Aetiology
SUDDEN CARDIAC DEATH
PEDIATRIC CARDIOMYOPATHY
RISK STRATIFICATION
AMERICAN-COLLEGE
EUROPEAN-SOCIETY
TASK-FORCE
CHILDREN
EPIDEMIOLOGY
CARDIOLOGY
DIAGNOSIS
Aetiology
Hypertrophic cardiomyopathy
Survival
United Kingdom
1102 Cardiorespiratory Medicine and Haematology
Cardiovascular System & Hematology
Publication Status
Published
Coverage Spatial
England
Date Publish Online
2018-12-06