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Friedreich's ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study. | LitMetric

AI Article Synopsis

Article 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 And Setting: 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 Outcome Measures: 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9046745PMC
http://dx.doi.org/10.1136/archdischild-2021-322455DOI Listing

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