Friedreich's ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study.
Arch Dis Child
; 107(5): 450-455, 2022 05.
Article
en En
| MEDLINE
| ID: mdl-34610949
ABSTRACT
OBJECTIVE:
Hypertrophic cardiomyopathy (HCM) is an important predictor of long-term outcomes in Friedreich's ataxia (FA), but the clinical spectrum and survival in childhood is poorly described. This study aimed to describe the clinical characteristics of children with FA-HCM. DESIGN ANDSETTING:
Retrospective, longitudinal cohort study of children with FA-HCM from the UK. PATIENTS 78 children (<18 years) with FA-HCM diagnosed over four decades. INTERVENTION Anonymised retrospective demographic and clinical data were collected from baseline evaluation and follow-up. MAIN OUTCOMEMEASURES:
The primary study end-point was all-cause mortality (sudden cardiac death, atrial arrhythmia-related death, heart failure-related death, non-cardiac death) or cardiac transplantation.RESULTS:
The mean age at diagnosis of FA-HCM was 10.9 (±3.1) years. Diagnosis was within 1 year of cardiac referral in 34 (65.0%) patients, but preceded the diagnosis of FA in 4 (5.3%). At baseline, 65 (90.3%) had concentric left ventricular hypertrophy and 6 (12.5%) had systolic impairment. Over a median follow-up of 5.1 years (IQR 2.4-7.3), 8 (10.5%) had documented supraventricular arrhythmias and 8 (10.5%) died (atrial arrhythmia-related n=2; heart failure-related n=1; non-cardiac n=2; or unknown cause n=3), but there were no sudden cardiac deaths. Freedom from death or transplantation at 10 years was 80.8% (95% CI 62.5 to 90.8).CONCLUSIONS:
This is the largest cohort of childhood FA-HCM reported to date and describes a high prevalence of atrial arrhythmias and impaired systolic function in childhood, suggesting early progression to end-stage disease. Overall mortality is similar to that reported in non-syndromic childhood HCM, but no patients died suddenly.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cardiomiopatía Hipertrófica
/
Ataxia de Friedreich
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Insuficiencia Cardíaca
Tipo de estudio:
Etiology_studies
/
Incidence_studies
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Observational_studies
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Prognostic_studies
/
Risk_factors_studies
Límite:
Child
/
Humans
Idioma:
En
Revista:
Arch Dis Child
Año:
2022
Tipo del documento:
Article
País de afiliación:
Reino Unido