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• W3202256119 abstract "DUCHENNE MUSCULAR dystrophy (DMD) is one of three dystrophinopathies associated with cardiomyopathy, including Becker muscular dystrophy (BMD) and X-linked dilated cardiomyopathy. DMD is the most common dystrophinopathy, affecting one in 3,500 male births, and it is characterized by severe, progressive muscle weakness and respiratory failure. 1 Neri M Valli E Alfano G et al. The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5′ X-linked dilated cardiomyopathy. BMC Med Genet. 2012; 13: 20 Crossref PubMed Scopus (16) Google Scholar Clinical symptoms of DMD are predominantly seen in males; however, there is variable phenotypic expression among female carriers. A phenotypic expression occurs when the X chromosome with the normal dystrophin gene becomes transcriptionally inactive. The severity of manifestation varies based on the extent of X-inactivation. Some carriers only exhibit elevated creatine kinase, while others experience exercise intolerance, muscle cramps, muscle weakness, and even muscle wasting. 2 Finsterer J Stollberger C Freudenthaler B et al. Muscular and cardiac manifestations in a Duchenne-carrier harboring a dystrophin deletion of exons 12-29. Intractable Rare Dis Res. 2018; 7: 120-125 Crossref PubMed Scopus (8) Google Scholar Cardiac involvement can occur irrespective of skeletal manifestation, and the frequency of cardiomyopathy increases with age. 3 Ishizaki M Kobayashi M Adachi K et al. Female dystrophinopathy: Review of current literature. Neuromuscul Disord. 2018; 28: 572-581 Abstract Full Text Full Text PDF PubMed Scopus (45) Google Scholar The average life expectancy of DMD carriers may be reduced, especially with the progression of dilated cardiomyopathy. 3 Ishizaki M Kobayashi M Adachi K et al. Female dystrophinopathy: Review of current literature. Neuromuscul Disord. 2018; 28: 572-581 Abstract Full Text Full Text PDF PubMed Scopus (45) Google Scholar , 4 Schade van Westrum SM Hoogerwaard EM Dekker L et al. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy. Neurology. 2011; 77: 62-66 Crossref PubMed Scopus (51) Google Scholar , 5 Politano L Nigro V Nigro G et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA. 1996; 275: 1335-1338 Crossref PubMed Google Scholar" @default.
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• W3202256119 date "2022-08-01" @default.
• W3202256119 modified "2023-09-30" @default.
• W3202256119 title "Orthotopic Heart Transplantation in Manifesting Carrier of Duchenne Muscular Dystrophy" @default.
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• W3202256119 doi "https://doi.org/10.1053/j.jvca.2021.09.047" @default.
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