{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T17:18:02Z","timestamp":1791134282374,"version":"4.1.0"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2010,1,18]],"date-time":"2010-01-18T00:00:00Z","timestamp":1263772800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>The prevalence and natural history of cardiovascular disease in adult patients with respiratory chain disease (RCD) is poorly characterized. We sought to determine the frequency and natural history of cardiac disease in patients with primary RCD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>Thirty-two patients (37.8 \u00b1 12.6 years) with a definite diagnosis of RCD underwent clinical examination, electrocardiography (ECG), 24 h Holter ECG, and cardiopulmonary exercise testing. Patients were classified into six different phenotypes: mitochondrial myopathy (MM; n = 8), chronic progressive ophthalmoplegia (CPEO; n = 2), chronic progressive ophthalmoplegia with myopathy (CPEO + MM; n = 12), Kearns\u2013Sayre syndrome (KSS; n = 2), mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS; n = 7), neuropathy, ataxia, and retinitis pigmentosa (NARP; n = 1). Twenty-two patients (69%) had a mitochondrial DNA mutation. Twenty-six patients (81%) had evidence for cardiac involvement: ECG abnormalities (69%) and cardiomyopathy (hypertrophic 19%; restrictive 3%; left ventricular non-compaction 3%). During follow-up (4.1 \u00b1 2.8 years), two patients with CPEO + MM developed hypertrophic cardiomyopathy and one patient with NARP developed peripartum dilated cardiomyopathy. Four patients (KSS = 2; MM = 1; MELAS = 1) developed arrhythmias or syncope requiring device therapy or invasive procedures. One patient with MM and cardiomyopathy had an orthotopic heart transplant. One patient with CPEO + MM died from respiratory failure. Freedom from all cardiovascular events at 5 years was 67% (95% CI 47.4\u201386.6).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>All patients with RCD should undergo careful and repeated clinical assessment to diagnose and manage cardiovascular involvement. However, life-threatening cardiovascular complications rarely occur, and the prognosis is generally favourable.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/eurjhf\/hfp186","type":"journal-article","created":{"date-parts":[[2010,1,18]],"date-time":"2010-01-18T13:49:18Z","timestamp":1263822558000},"page":"114-121","source":"Crossref","is-referenced-by-count":124,"title":["Prevalence and Natural History of Heart Disease in Adults with Primary Mitochondrial Respiratory Chain Disease"],"prefix":"10.1093","volume":"12","author":[{"given":"Giuseppe","family":"Limongelli","sequence":"first","affiliation":[{"name":"The Heart Hospital, University College London , 16-18 Westmoreland Street, London, W1G 8PH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maite","family":"Tome-Esteban","sequence":"additional","affiliation":[{"name":"The Heart Hospital, University College London , 16-18 Westmoreland Street, London, W1G 8PH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charungthai","family":"Dejthevaporn","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shamima","family":"Rahman","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael G.","family":"Hanna","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perry M.","family":"Elliott","sequence":"additional","affiliation":[{"name":"The Heart Hospital, University College London , 16-18 Westmoreland Street, London, W1G 8PH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2010,1,18]]},"reference":[{"key":"2026020203362318000_ejhfhfp186-bib-0001","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1056\/NEJMra022567","article-title":"Mitochondrial respiratory-chain diseases","volume":"348","author":"DiMauro","year":"2003","journal-title":"N Engl J Med"},{"key":"2026020203362318000_ejhfhfp186-bib-0002","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/j.nmd.2005.01.006","article-title":"New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation","volume":"15","author":"Pulkes","year":"2005","journal-title":"Neuromuscul Disord"},{"key":"2026020203362318000_ejhfhfp186-bib-0003","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1007\/s000180050327","article-title":"Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases","volume":"55","author":"Hanna","year":"1999","journal-title":"Cell Mol Life Sci"},{"key":"2026020203362318000_ejhfhfp186-bib-0004","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/0140-6736(91)92196-9","article-title":"Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy","volume":"337","author":"Ino","year":"1991","journal-title":"Lancet"},{"key":"2026020203362318000_ejhfhfp186-bib-0005","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1203\/01.pdr.0000190572.68191.13","article-title":"Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency","volume":"59","author":"B\u00f6hm","year":"2006","journal-title":"Pediatr Res"},{"key":"2026020203362318000_ejhfhfp186-bib-0006","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1542\/peds.2004-0718","article-title":"Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease","volume":"114","author":"Scaglia","year":"2004","journal-title":"Pediatrics"},{"key":"2026020203362318000_ejhfhfp186-bib-0007","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1007\/s00246-003-0490-7","article-title":"Clinical presentations of mitochondrial cardiomyopathies","volume":"25","author":"Lev","year":"2004","journal-title":"Pediatr Cardiol"},{"key":"2026020203362318000_ejhfhfp186-bib-0008","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/S0195-668X(02)00387-1","article-title":"Cardiomyopathy in children with mitochondrial disease. 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