Duchenne muscular dystrophy: an overview to the cardiologist

References

• Duchenne. The pathology of paralysis with muscular degeneration (paralysie myosclerotique), or paralysis with apparent hypertrophy. Br Med J. 1867;2(363):541–542.
   PubMedGoogle Scholar
• Emery AE. Population frequencies of inherited neuromuscular diseases–a world survey. Neuromuscul Disord. 1991;1(1):19–29.
   PubMedGoogle Scholar
• Rybakova IN, Patel JR, Ervasti JM. The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin. J Cell Biol. 2000;150(5):1209–1214.
   PubMed Web of Science ®Google Scholar
• Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51(6):919–928.
   PubMed Web of Science ®Google Scholar
• Emery AE. The muscular dystrophies. Lancet. 2002;359:687–695.
   PubMed Web of Science ®Google Scholar
• Dent KM, Dunn DM, von Niederhausern AC, et al. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet A. 2005;134(3):295–298.
   PubMedGoogle Scholar
• Kamdar F, Garry DJ. Dystrophin-deficient cardiomyopathy. J Am Coll Cardiol. 2016;67(21):2533–2546.
   PubMed Web of Science ®Google Scholar
• Araujo APQC, Carvalho AAS, Cavalcanti EBU, et al. Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives. Arq Neuropsiquiatr. 2017;75(8):104–113.
   PubMed Web of Science ®Google Scholar
• Nigro G, Comi LI, Politano L, et al. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol. 1990;26(3):271–277.
   PubMed Web of Science ®Google Scholar
• Van Ruiten HJ, Bettolo CM, Cheetham T, et al. Why are some patients with Duchenne muscular dystrophy dying young: an analysis of causes of death in North East England. Eur J Paediatr Neurol. 2016;20(6):904–909.
   PubMed Web of Science ®Google Scholar
• Barp A, Bello L, Politano L, et al. Genetic modifiers of Duchenne muscular dystrophy and dilated cardiomyopathy. PLoS One. 2015;10(10):e0141240.
   PubMed Web of Science ®Google Scholar
• Eagle M, Baudoulin SV, Chandler C, et al. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord. 2002;12(10):926–929.
   PubMed Web of Science ®Google Scholar
• Fayssoil A, Abasse S, Silverston K. Cardiac involvement classification and therapeutic management in patients with Duchenne muscular dystrophy. J Neuromuscul Dis. 2017;4(1):17–23.
   PubMedGoogle Scholar
• Bourke JP, Guglieri M, Duboc D, et al. 238th ENMC international workshop: updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018. Neuromuscul Disord. 2019;29(8):634–643.
   PubMed Web of Science ®Google Scholar
• Meyers TA, Townsend D. Cardiac pathophysiology and the future of cardiac therapies in Duchenne muscular dystrophy. Int J Mol Sci. 2019;20(17):4098.
   PubMed Web of Science ®Google Scholar
• Law ML, Cohen H, Martin AA, et al. Dysregulation of calcium handling in Duchenne muscular dystrophy-associated dilated cardiomyopathy: mechanisms and experimental therapeutic strategies. J Clin Med. 2020;9(2):520.
   Web of Science ®Google Scholar
• Frankel KA, Rosser RJ. The pathology of the heart in progressive muscular dystrophy: epimyocardial fibrosis. Hum Pathol. 1976;7(4):375–386.
   PubMed Web of Science ®Google Scholar
• Fayssoil A, Nardi O, Orlikowski D, et al. Cardiomyopathy in Duchenne muscular dystrophy: pathogenesis and therapeutics. Heart Fail Rev. 2010;15(1):103–107.
   PubMed Web of Science ®Google Scholar
• Fayssoil A, Ritzenthaler T, Luis D, et al. Be careful about abdominal discomfort in adult patients with muscular dystrophy. Rev Neurol (Paris). 2014;170(8–9):548–550.
   PubMed Web of Science ®Google Scholar
• Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018;17(4):347–361.
   PubMed Web of Science ®Google Scholar
• Perloff JK. Cardiac rhythm and conduction in Duchenne’s muscular dystrophy: a prospective study of 20 patients. J Am Coll Cardiol. 1984;3(5):1263–1268.
   PubMed Web of Science ®Google Scholar
• Takami Y, Takeshima Y, Awano H, et al. High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy. Pediatr Neurol. 2008;39(6):399–403.
   PubMed Web of Science ®Google Scholar
• Slucka C. The electrocardiogram in Duchenne progressive muscular dystrophy. Circulation. 1968;38(5):933–940.
   PubMed Web of Science ®Google Scholar
• Fayssoil A, Yaou RB, Ogna A, et al. Left bundle branch block in Duchenne muscular dystrophy: prevalence, genetic relationship and prognosis. PLoS One. 2018;13(1):e0190518.
   PubMed Web of Science ®Google Scholar
• Villa CR, Czosek RJ, Ahmed H, et al. Ambulatory monitoring and arrhythmic outcomes in pediatric and adolescent patients with Duchenne muscular dystrophy. J Am Heart Assoc. 2015;5(1):e002620.
   PubMed Web of Science ®Google Scholar
• Taqatqa A, Bolowski J, Al-Kubaisi M, et al. The use of speckle tracking echocardiography for early detection of myocardial dysfunction in patients with Duchenne muscular dystrophy. Pediatr Cardiol. 2016;37(8):1422–1428.
   PubMed Web of Science ®Google Scholar
• Spurney CF. Cardiomyopathy of Duchenne muscular dystrophy: current understanding and future directions. Muscle Nerve. 2011;44(1):8–19.
   PubMed Web of Science ®Google Scholar
• Song G, Zhang J, Wang X, et al., Usefulness of speckle-tracking echocardiography for early detection in children with Duchenne muscular dystrophy: a meta-analysis and trial sequential analysis. Cardiovasc Ultrasound. 18(1): 26. 2020.
   PubMed Web of Science ®Google Scholar
• Mertens L, Gandmie J, Claus P, et al. Early regional myocardial dysfunction in young patients with Duchenne muscular dystrophy. J Am Soc Echocardiogr. 2008;21(9):1049–1054.
   PubMed Web of Science ®Google Scholar
• Giatrakos N, Kinali M, Stephens D, et al. Cardiac tissue velocities and strain rate in the early detection of myocardial dysfunction of asymptomatic boys with Duchenne’s muscular dystrophy: relationship to clinical outcome. Heart. 2006;92(6):840–842.
   PubMed Web of Science ®Google Scholar
• Rapezzi C, Leone O, Biagini E, et al. Echocardiographic clues to diagnosis of dystrophin related dilated cardiomyopathy. Heart. 2007;93(1):10.
   PubMedGoogle Scholar
• Silva MC, Meira ZMA, Giannetti JG, et al. Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy. J Am Coll Cardiol. 2007;49(18):1874–1879.
   PubMed Web of Science ®Google Scholar
• Rochitte CE, Liberato G, Silva MC. Comprehensive assessment of cardiac involvement in muscular dystrophies by cardiac MR imaging. Magn Reson Imaging Clin N Am. 2019;27(3):521–531.
   PubMed Web of Science ®Google Scholar
• Florian A, Ludwig A, Engelen M, et al. Left ventricular systolic function and the pattern of late-gadolinium-enhancement independently and additively predict adverse cardiac events in muscular dystrophy patients. J Cardiovasc Magn Reson. 2014;16:81.
   PubMed Web of Science ®Google Scholar
• Cheeran D, Khan S, Khera R, et al. Predictors of death in adults with Duchenne muscular dystrophy-associated cardiomyopathy. J Am Heart Assoc. 2017;6(10):e006340.
   PubMed Web of Science ®Google Scholar
• Voleti S, Olivieri L, Hamann K, et al. Troponin I levels correlate with cardiac MR LGE and Native T1 values in Duchenne muscular dystrophy cardiomyopathy and identify early disease progression. Pediatr Cardiol. 2020;41:1173–1179.
   PubMed Web of Science ®Google Scholar
• Politano L, Nigro V, Nigro G, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA. 1996;275(17):1335–1338.
   PubMed Web of Science ®Google Scholar
• Araujo APQC, Nardes F, Fortes CPDD, et al. Brazilian consensus on Duchenne muscular dystrophy. Part 2: rehabilitation and systemic care. Arq Neuropsiquiatr. 2018;76(7):481–489.
   PubMed Web of Science ®Google Scholar
• Ogata H, Ishikawa Y, Minami R. Beneficial effects of beta-blockers and angiotensin-converting enzyme inhibitors in Duchenne muscular dystrophy. J Cardiol. 2009;53(1):72–78.
   PubMed Web of Science ®Google Scholar
• Viollet L, Thrush P, Flanigan KM, et al. Effects of angiotensin-converting enzyme inhibitors and/or beta blockers on the cardiomyopathy in Duchenne muscular dystrophy. Am J Cardiol. 2012;110(1):98–102.
   PubMed Web of Science ®Google Scholar
• Duboc D, Meune C, Lerebours G, et al. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. J Am Coll Cardiol. 2005;45(6):855–857.
   PubMed Web of Science ®Google Scholar
• Duboc D, Meune C, Pierre B, et al. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years’ follow-up. Am Heart J. 2007;154(3):596–602.
   PubMed Web of Science ®Google Scholar
• Silva MC, Azevedo CF, Rochitte CE. Myocardial fibrosis in Duchenne and becker muscular dystrophy-reply. JAMA Cardiol. 2017;2(9):1046.
   PubMed Web of Science ®Google Scholar
• Dittrich S, Graf E, Trollmann R, et al. Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial. Orphanet J Rare Dis. 2019;14(1):105.
   PubMedGoogle Scholar
• Kamdar F, Das s, gong w, et al. stem cell-derived cardiomyocytes and beta-adrenergic receptor blockade in Duchenne muscular dystrophy cardiomyopathy. J Am Coll Cardiol. 2020;75(10):1159–1174.
   PubMed Web of Science ®Google Scholar
• Raman SV, Hor KN, Mazur W, et al. Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial. Orphanet J Rare Dis. 2017;12(1):39.
   PubMedGoogle Scholar
• Raman SV, Hor KN, Mazur W, et al. Stabilization of early Duchenne cardiomyopathy with aldosterone inhibition: results of the multicenter AIDMD trial. J Am Heart Assoc. 2019;8(19):e013501.
   PubMed Web of Science ®Google Scholar
• Buyse GM, Goemans N, van den Hauwe M, et al. Idebenone as a novel, therapeutic approach for Duchenne muscular dystrophy: results from a 12 month, double-blind, randomized placebo-controlled trial. Neuromuscul Disord. 2011;21(6):396–405.
   PubMed Web of Science ®Google Scholar
• Bourke JP, Bueser T, Quinlivan R. Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy. Cochrane Database Syst Rev. 2018;10(CD009068).
   PubMedGoogle Scholar
• Schram G, Fournier A, Leduc H, et al. All-cause mortality and cardiovascular outcomes with prophylactic steroid therapy in Duchenne muscular dystrophy. J Am Coll Cardiol. 2013;61(9):948–954.
   PubMed Web of Science ®Google Scholar
• Trucco F, Domingos J, Tay CG, et al. Cardiorespiratory progression over 5 years and role of corticosteroids in Duchenne muscular dystrophy: a single-site retrospective longitudinal study. Chest. 2020. DOI:10.1016/j.chest.2020.04.043
   PubMed Web of Science ®Google Scholar
• Fayssoil A, Nardi O, Annane D, et al. Successful cardiac resynchronisation therapy in Duchenne muscular dystrophy: a 5-year follow-up. Presse Med. 2014;43(3):330–331.
   PubMed Web of Science ®Google Scholar
• Wittlieb-Weber CA, Villa CR, Conway J, et al. Use of advanced heart failure therapies in Duchenne muscular dystrophy. Prog Pediatr Cardiol. 2019;53:11–14.
   PubMed Web of Science ®Google Scholar
• McCulloch MA, Lal AK, Knecht K, et al. Implantable cardioverter defibrillator use in males with Duchenne muscular dystrophy and severe left ventricular dysfunction. Pediatr Cardiol. 2020;41(5):925–931.
   PubMed Web of Science ®Google Scholar
• Lim KR, Maruyama R, Yokota T. Eteplirsen in the treatment of Duchenne muscular dystrophy. Drug Des Devel Ther. 2017;11:533–545.
   PubMed Web of Science ®Google Scholar
• McDonald CM, Campbell C, Torricelli RE, et al. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017;390(10101):1489–1498.
   PubMed Web of Science ®Google Scholar
• Chamberlain JR, Chamberlain JS. Progress toward gene therapy for Duchenne muscular dystrophy. Mol Ther. 2017;25(5):1125–1131.
   PubMed Web of Science ®Google Scholar
• Taylor M, Jefferies J, Byrne B, et al. Cardiac and skeletal muscle effects in the randomized HOPE-Duchenne trial. Neurology. 2019;92(8):e866–e878.
   PubMed Web of Science ®Google Scholar