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Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease
Author(s) -
Limongelli Giuseppe,
TomeEsteban Maite,
Dejthevaporn Charungthai,
Rahman Shamima,
Hanna Michael G.,
Elliott Perry M.
Publication year - 2010
Publication title -
european journal of heart failure
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.149
H-Index - 133
eISSN - 1879-0844
pISSN - 1388-9842
DOI - 10.1093/eurjhf/hfp186
Subject(s) - medicine , cardiology , hypertrophic cardiomyopathy , cardiomyopathy , mitochondrial myopathy , lactic acidosis , chronic progressive external ophthalmoplegia , myopathy , heart failure , mitochondrial disease , dilated cardiomyopathy , heart disease , mitochondrial dna , biochemistry , chemistry , gene
Aims 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. Methods and results Thirty‐two patients (37.8 ± 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–Sayre 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 ± 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 47.4–86.6). Conclusion 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.