Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom
Key result
Childhood HCM mortality and SCD rates remain higher than in adults and unchanged over time.
- 95% CI 87.9-92.7
- n=687
Figures
Study Design
Type
Cohort (n=687)
Multicenter
Yes
Structured PICO
P
Population
687 children (median age 5.2 years) with hypertrophic cardiomyopathy in a United Kingdom cohort, evaluated for clinical characteristics and outcomes over four decades.
O
Outcome
Freedom from death or transplantation at 5 yearshard clinical
In a UK cohort of childhood hypertrophic cardiomyopathy, 5-year freedom from death or transplantation was 90.6%, with worse prognosis for those diagnosed in infancy or with inborn errors of metabolism.
Key expert perspectives
Captured external expert commentary on this paper, strongest first. Original sources are linked where available.
“Young children are at a greater risk of death from HCM than older adults that develop the condition. The most important thing that [the research] highlights is that we should not exclude children from clinical trials, treatments, and new diagnostic techniques. We need to include children in the development and testing of new drugs and therapies as many of the treatments for HCM are not available to children, even though they may be effective.”
Implication
Supports vigilance for SCD in childhood HCM; leaves open therapies to close persistent outcome gap with adults.
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.
Discussion
No takes yet. Share an insight, caveat, or question.
Cite This Study
Norrish et al. (2018) conducted a cohort in childhood hypertrophic cardiomyopathy (n=687). Childhood hypertrophic cardiomyopathy was evaluated on Freedom from death or transplantation at 5 years (95% CI 87.9-92.7). Childhood hypertrophic cardiomyopathy had a 5-year freedom from death or transplantation of 90.6% (95% CI 87.9-92.7%), with worse survival in those diagnosed during infancy or with an inborn error of metabolism.