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Multicenter Study
. 2019 Mar 21;40(12):986-993.
doi: 10.1093/eurheartj/ehy798.

Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom

Gabrielle Norrish  1   2 , Ella Field  1   2 , Karen Mcleod  3 , Maria Ilina  3 , Graham Stuart  4 , Vinay Bhole  5 , Orhan Uzun  6 , Elspeth Brown  7 , Piers E F Daubeney  8 , Amrit Lota  8 , Katie Linter  9 , Sujeev Mathur  10 , Tara Bharucha  11 , Khoon Li Kok  11 , Satish Adwani  12 , Caroline B Jones  13 , Zdenka Reinhardt  14 , Juan Pablo Kaski  1   2
Affiliations
Multicenter Study

Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom

Gabrielle Norrish et al. Eur Heart J. .

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.

Keywords: Aetiology; Hypertrophic cardiomyopathy; Survival; United Kingdom.

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Figures

Figure 1
Figure 1
Age of presentation in years with childhood hypertrophic cardiomyopathy; (A) by family history, (B) by aetiology. Patients presenting in infancy are more likely to have a diagnosis of a RASopathy (χ2P < 0.001) or IEM (χ2P < 0.001).
Figure 2
Figure 2
The Kaplan–Meier curves for survival free from all-cause mortality or cardiac transplantation; (A) for whole cohort; (B) stratified by age of presentation, Log rank test P < 0.0001. 95% CI are shown. (C) Stratified by aetiology, Log rank test <0.0001.
Take home figure
Take home figure
Kaplan-Meier curves for survival free from all cause mortality or cardiac transplantation. Aetiology is important for outcome with patients with an inborn error of metabolism having a worse prognosis most commonly secondary to congestive cardiac failure (log rank test <0.0001).
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