{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:04:31Z","timestamp":1756339471187,"version":"3.44.0"},"reference-count":34,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,7,2]]},"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:p>Hypertrophic cardiomyopathy (HCM) is an autosomal dominant cardiac myocyte disease characterised by left ventricular hypertrophy that develops in the absence of causative haemodynamic factors. In addition to mutations in sarcomeric genes, which are the most significant cause of HCM in adults and children, paediatric HCM also exhibits a high prevalence of non-sarcomeric causes. These include inherited metabolic disorders, malformation syndromes, neuromuscular diseases and mitochondrial diseases collectively accounting for about 35% of cases. In this case report, we describe a case of non-sarcomeric paediatric HCM associated with mitochondrial disorder (Friedreich\u2019s ataxia). Friedreich\u2019s ataxia is a neurodegenerative disorder caused by a homozygous GAA triplet repeat expansion in the Frataxin gene. Symptoms include progressive ataxia, dysarthria, peripheral neuropathy and diabetes mellitus. Cardiovascular involvement, often presenting as HCM, emerges during adolescence and affects nearly two-thirds of patients. This case also highlights the importance of genetic analysis in paediatric cardiomyopathies.<\/jats:p>","DOI":"10.1136\/bcr-2025-265662","type":"journal-article","created":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T18:05:19Z","timestamp":1754330719000},"page":"e265662","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Hypertrophic cardiomyopathy with ataxic gait: a cardiac clue to a neurologic diagnosis"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-8103-9647","authenticated-orcid":false,"given":"Sandeepan","family":"Saha","sequence":"first","affiliation":[{"name":"Cardiology, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8551-9589","authenticated-orcid":false,"given":"Ashish","family":"Jha","sequence":"additional","affiliation":[{"name":"Cardiology, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-2596-2307","authenticated-orcid":false,"given":"Mithilesh","family":"Yadaw","sequence":"additional","affiliation":[{"name":"Cardiology, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4969-0076","authenticated-orcid":false,"given":"Bhuwan","family":"Tiwari","sequence":"additional","affiliation":[{"name":"Cardiology, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,8,4]]},"reference":[{"key":"2025082707191677000_18.8.e265662.1","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2021.632293","article-title":"Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes","volume":"9","author":"Monda","year":"2021","journal-title":"Front Pediatr"},{"key":"2025082707191677000_18.8.e265662.2","doi-asserted-by":"crossref","first-page":"2324","DOI":"10.1016\/j.jacc.2024.02.014","article-title":"AHA\/ACC\/AMSSM\/HRS\/PACES\/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association\/American College of Cardiology Joint Committee on Clinical Practice Guidelines","volume":"83","author":"Ommen","year":"2024","journal-title":"J Am Coll Cardiol"},{"key":"2025082707191677000_18.8.e265662.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2015.01.019"},{"key":"2025082707191677000_18.8.e265662.4","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.621185"},{"key":"2025082707191677000_18.8.e265662.5","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000066323.15244.54"},{"key":"2025082707191677000_18.8.e265662.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2004.07.045"},{"key":"2025082707191677000_18.8.e265662.7","doi-asserted-by":"publisher","DOI":"10.4065\/80.4.463"},{"key":"2025082707191677000_18.8.e265662.8","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0000000000000682"},{"key":"2025082707191677000_18.8.e265662.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardfail.2012.01.017"},{"key":"2025082707191677000_18.8.e265662.10","doi-asserted-by":"publisher","DOI":"10.1067\/mhj.2000.103933"},{"key":"2025082707191677000_18.8.e265662.11","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<396::AID-AJMG13>3.0.CO;2-M"},{"key":"2025082707191677000_18.8.e265662.12","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199610173351601"},{"key":"2025082707191677000_18.8.e265662.13","doi-asserted-by":"publisher","DOI":"10.1002\/IUB.2457"},{"key":"2025082707191677000_18.8.e265662.14","doi-asserted-by":"crossref","first-page":"1719","DOI":"10.1212\/WNL.55.11.1719","article-title":"Oxidative stress in patients with Friedreich ataxia","volume":"55","author":"Schulz","year":"2000","journal-title":"Neurology (ECronicon)"},{"key":"2025082707191677000_18.8.e265662.15","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100025580"},{"key":"2025082707191677000_18.8.e265662.16","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-8703(77)80035-5"},{"key":"2025082707191677000_18.8.e265662.17","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.95.9.2247"},{"key":"2025082707191677000_18.8.e265662.18","doi-asserted-by":"publisher","DOI":"10.1007\/s001090000162"},{"key":"2025082707191677000_18.8.e265662.19","doi-asserted-by":"publisher","DOI":"10.1080\/14734220600913246"},{"key":"2025082707191677000_18.8.e265662.20","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2011.01.010"},{"key":"2025082707191677000_18.8.e265662.21","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.117.311059"},{"key":"2025082707191677000_18.8.e265662.22","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2011.05.023"},{"key":"2025082707191677000_18.8.e265662.23","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1111\/jnc.12217","article-title":"Cardiomyopathy of Friedreich ataxia","volume":"126 Suppl 1","author":"Weidemann","year":"2013","journal-title":"J Neurochem"},{"key":"2025082707191677000_18.8.e265662.24","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1986.00520020075026"},{"key":"2025082707191677000_18.8.e265662.25","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.38.12.1291"},{"key":"2025082707191677000_18.8.e265662.26","first-page":"311","article-title":"Aspects cardiaques de la maladie de Friedreich","volume":"4","author":"Soulie","year":"1965","journal-title":"Coeur et Medicine Interne"},{"key":"2025082707191677000_18.8.e265662.27","unstructured":"Moore AA , Lambert EC . Cardiomyopathy associated with musuclar and neuromuscular disease. In: Paediatric cardiology. The CV Mosby Co, 1968."},{"key":"2025082707191677000_18.8.e265662.28","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-197011000-00005"},{"key":"2025082707191677000_18.8.e265662.29","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(71)90441-3"},{"key":"2025082707191677000_18.8.e265662.30","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1001\/jamaneurol.2015.1855","article-title":"A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia","volume":"72","author":"Pousset","year":"2015","journal-title":"JAMA Neurol"},{"key":"2025082707191677000_18.8.e265662.31","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1002\/mds.29687","article-title":"Predictors of Survival in Friedreich\u2019s Ataxia: A Prospective Cohort Study","volume":"39","author":"Indelicato","year":"2024","journal-title":"Mov Disord"},{"key":"2025082707191677000_18.8.e265662.32","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-022-02568-3","article-title":"Clinical management guidelines for Friedreich ataxia: best practice in rare diseases","volume":"17","author":"Corben","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"2025082707191677000_18.8.e265662.33","unstructured":"US Food and Drug Administration . FDA approves first treatment for friedreich\u2019s ataxia. Available: https:\/\/www.fda.gov\/drugs\/news-events-human-drugs\/fda-approves-first-treatment-friedreichs-ataxia [Accessed 17 Oct 2023]."},{"key":"2025082707191677000_18.8.e265662.34","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.116.309386"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-265662","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:19:22Z","timestamp":1756304362000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-265662"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":34,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2025,8,4]]},"published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1136\/bcr-2025-265662"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-265662","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,8]]}}}