TY - JOUR T1 - Friedreich’s ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study JF - Archives of Disease in Childhood JO - Arch Dis Child DO - 10.1136/archdischild-2021-322455 SP - archdischild-2021-322455 AU - Gabrielle Norrish AU - Thomas Rance AU - Elena Montanes AU - Ella Field AU - Elspeth Brown AU - Vinay Bhole AU - Graham Stuart AU - Orhan Uzun AU - Karen A McLeod AU - Maria Ilina AU - Satish Adwani AU - Piers Daubeney AU - Grazia Delle Donne AU - Katie Linter AU - Caroline B Jones AU - Tara Bharucha AU - Elena Cervi AU - Juan Pablo Kaski Y1 - 2021/10/04 UR - http://adc.bmj.com/content/early/2021/10/04/archdischild-2021-322455.abstract N2 - 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.The data underlying this article cannot be shared publically as consent for dissemination of patient data was not obtained. GN, TR and JPK had access to all data and final responsibility for submission of the manuscript. ER -