Cardiac involvement in female carriers of duchenne or becker muscular dystrophy

Muscle and Nerve

Volumn 55, Issue 6, 2017, Pages 810-818

  Mccaffrey, Thomas ^a,b   Guglieri, Michela ^a   Murphy, Alexander P ^a   Bushby, Katherine ^a   Johnson, Anna ^a,b   Bourke, John P ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b FREEMAN HOSPITAL   (United Kingdom)

Author keywords

cardiomyopathy; dystrophinopathy; echocardiography; prognosis; screening; Xp 21 mutation carriers

Indexed keywords

CREATINE KINASE; DYSTROPHIN; DMD PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; BECKER MUSCULAR DYSTROPHY; CARDIOMYOPATHY; CHILD; CROSS-SECTIONAL STUDY; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; GENE MUTATION; HEART LEFT VENTRICLE EJECTION FRACTION; HEART LEFT VENTRICLE ENDDIASTOLIC VOLUME; HEART LEFT VENTRICLE ENDSYSTOLIC VOLUME; HEART LEFT VENTRICLE FUNCTION; HUMAN; LEFT VENTRICULAR SYSTOLIC DYSFUNCTION; MAJOR CLINICAL STUDY; PREVALENCE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SKELETAL MUSCLE; AGE DISTRIBUTION; BLOOD; CARDIOMYOPATHIES; CLASSIFICATION; COHORT ANALYSIS; COMPLICATION; ELECTROCARDIOGRAPHY; GENETICS; MIDDLE AGED; MUSCULAR DYSTROPHIES; MUTATION; PATHOLOGY; PHYSIOLOGY; UNITED KINGDOM;

ADULT; AGE DISTRIBUTION; CARDIOMYOPATHIES; COHORT STUDIES; CREATINE KINASE; CROSS-SECTIONAL STUDIES; DYSTROPHIN; ELECTROCARDIOGRAPHY; FEMALE; HUMANS; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; UNITED KINGDOM; VENTRICULAR FUNCTION, LEFT;

EID: 85013298083     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.25445     Document Type: Article

References (43)

1. Becker PE, Keiner F. Eine neue X-chromasomale Muskeldystrophie. Archiv fur Psychiatre und Nervenkrankheiten 1955;193:427–448.
2. Emery A, Skinner R. Clinical studies in benign Becker type X-linked muscular dystrophy. Clin Genet 1976;10:189–201.
3. Nigro G, Comi LI, Limongelli FR, Giugliano MA, Politano L, Petretta V, et al. Prospective study of X-linked progressive muscular dystrophy in Campania. Muscle Nerve 1983;6:253–262.
4. Melacini P, Fanin M, Danieli GA, Villanova C, Martinello F, Miorin M, et al. Myocardial involvement is very frequent in patients affected with sub-clinical Becker's muscular dystrophy. Circulation 1996;94:3168–3175.
5. Nagai T. Prognostic evaluation of congestive cardiac failure in patients with Duchenne muscular dystrophy – retrospective study using non-invasive cardiac function tests. Jpn Circ J 1989;53:406–415.
6. de Visser M, de Voogt WG, la Riviere GV. The heart in Becker muscular dystrophy, fascio-scapulo-humeral dystrophy and Bethlem myopathy. Muscle Nerve 1992;15:591–596.
7. Melacini P, Vianello A, Villanova C, Fanin M, Miorin M, Angelini C, et al. Cardiac and respiratory involvement in advanced stages of Duchenne muscular dystrophy. Neuromuscul Disord 1996;6:367–376.
8. Casazzo F, Bambilla SG, Salvato A, Morandi L, Gronda E, Bonacina E, et al. Cardiac transplantation in Becker muscular dystrophy. J Neurol 1988;235:496–498.
9. McDonald CM, Abresch RT, Carter GT, Fowler WM Jr, Johnson ER, Kilmer DD. Profiles of neuromuscular diseases. Becker muscular dystrophy. Am J Phys Med Rehabil 1995;74(Suppl):S93–S103.
10. Cho YN, Choi Y-C. Female carriers of Duchenne muscular dystrophy. J Genet Med 2013;10:94–98.
11. Soltanzadeh P, Friez MJ, Dunn D, von Niederhausem A, Gurvich OL, Swoboda KJ, et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord 2010;20:499–504.
12. Mirabella M, Servidei S, Manfreid G, Ricci E, Frustaci A, Bertini E, et al. Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 1993;43:2342–2345.
13. Hoogerwaard EM, Bakker E, Ippel PF, Oosterwijk JC, Majoor-Krakauer DF, Leschot NJ, et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999;353:2116–2119.
14. Melacini P, Fanin M, Angelini A, Pegoraro E, Livi U, Danieli GA, et al. Cardiac transplantation in a Duchenne muscular dystrophy carrier. Neuromuscul Disord 1998;8:585–590.
15. Politano L, Nigro V, Nigro V, Petretta VR, Passamano L, Papparella S, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996;275:1335–1338.
16. Hoogerwaard EM, van der Wouw PA, Wilde AA, Bakker E, Ippel PF, Oosterwijk JC, et al. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1999;9:347–351.
17. Grain L, Cortina-Borja M, Forfar C, Hilton-Jones D, Hopkin J, Burch M. Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls. Neuromuscul Disord 2001;11:186–191.
18. Sewry CA, Sansome A, Clerk A, Serrattt TG, Hasson N, Rodillo E, et al. Manifesting carriers of Xp21 muscular dystrophy; lack of correlation between dystrophin expression and clinical weakness. Neuromuscul Disord 1993;3:141–148.
19. Duncan RF, Dundon BK, Nelson AJ, Pemberton J, Williams K, Worthley MI, et al. A study of 16-segment regional wall motion scoring index and biplane Simpson's rule for calculation of left ventricular ejection fraction: a comparison with cardiac magnetic resonance imaging. Echocardiography 2011;28:597–604.
20. Quinones MA, Waggoner AD, Reduto LA, Nelson JG, Young JB, Winters WL Jr, et al. A new, simplified and accurate method for determining ejection fraction with two-dimensional echocardiography. Circulation 198;64:744–753.
21. Lang RM, Bierig M, Devereux RB, Flachskampf FA, Foster E, Pellikka PA, et al. Chamber quantification writing group, American Society of Echocardiography's Guidelines and Standards Committee, European Association of Echocardiography, Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr 2005;18:1440–1463.
22. Masani N, Wharton G, Allen J - for BSE Education Committee. Echocardiography: guidelines for chamber quantification. (http://www.bsecho.org). Adapted from: Zoghbi WA, Enriquez-Sarano M, Forster E, Grayburn PA, Kraft CD, Levine RA, et al. J Am Soc Echocardiogr 2003;16:777–802 and Bonow RO, Carabello BA, Chatterjee K, de Leon AC Jr, Faxon DP, Freed MD, et al. ACC/AHA 2006 guidelines for the management of patients with valvular heart disease. A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol 2006;48:e1–e148.
23. Lang RM, Bierig M, Devereux RB, Flachskampf FA, Foster E, Pellikka PA, et al. Recommendations for chamber quantification. Eur J Echocardiogr 2006;7:79–108.
24. Mercier S, Toutain A, Toussaint A, Raynaud M, de Barace C, Marcorelles P, et al. Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at paediatric age. Eur J Hum Genet 2013;21:855–863.
25. Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swaboda KJ, et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromusc Disord 2010;20:499–504.
26. Juan-Mateu J, Rodriguez MJ, Nascimento A, Jimenez-Mallebrera C, Gonzalez-Quereda L, Rivas E, et al. Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy. Orphanet J Rare Dis 2012;7:82.
27. Viggiano E, Picillo E, Cirillo A, Politano L. Comparison of X-chromosome inactivation in Duchenne muscle/myocardial-manifesting carriers, non-manifesting carriers and related daughters. Clin Genet 2013;84:265–270.
28. Nigro G, Comi LI, Politano L, Bain RJ. The incidence and evolution of cardio-myopathy in Duchenne muscular dystrophy. Int J Cardiol 1990;26:271–277.
29. Verhaert D, Richards K, Rafael-Fortney JA, Raman SV. Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations. Circ Cardiovasc Imaging 2011;4:67–76.
30. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, et al. Contemporary definitions and classification of the cardiomyopathies. An American Heart Association Scientific Statement From the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 2006;113:1807–1816.
31. Thrush PT, Allen HD, Viollet L, Mendell JR. Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy. Am J Cardiol 2009;103:262–265.
32. Florian AR, Ludwig A, Rosch S, Sechtem U, Yilmaz A. Differences in cardiac involvement between carriers of Duchenne and Becker muscular dystrophy - a cardiac magnetic resonance study. J Cardiovasc Magn Reson 2015;17:Q90.
33. Crilley JG, Boehm EA, Rajagopalan B, Blamire AM, Styles P, Muntoni F, et al. Magnetic resonance spectroscopy evidence of abnormal cardiac energetics in Xp21 muscular dystrophy. J Am Coll Cardiol 2000;36:1953–1958.
34. Dubowitz V. The female carrier of Duchenne muscular dystrophy. BMJ 1982;284:1423–1424.
35. Yoshida K, Ikeda S, Nakamura A, Kaqoshia M, Takeda S, Shoji S, et al. Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy. Muscle Nerve 1993;16:1161–1166.
36. Emery AEH. The muscular dystrophies. Lancet 2002;359:687–695.
37. Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, et al. Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. BMC Medical Genetics 2012;13:73.
38. Schade van Westrum SM, Hoogerwaard EM, Dekker L, Standaar TS, Bakker E, Ippel PF, et al. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy. Neurology 2011;77:62–66.
39. Holloway SM, Wilcox DE, Wilcox A, Dean JC, Berg JN, Goodie DR, et al. Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland. Heart 2008;94:633–636.
40. Mavrogeni S, Papavasiliou A, Spargias K, Constandoulakis P, Papadopoulos G, Karanasios GE, et al. Myocardial inflammation in Duchenne muscular dystrophy as a precipitating factor for heart failure: a prospective study. BMC Neurol 2010;10:33.
41. Sisakian H. Cardiomyopathies: evolution of pathogenesis concepts and potential for new therapies. World J Cardiol 2014;26:478–494.
42. Duboc D, Meune C, Pierre B, Wahbi K, Eymard B, Toutain A, et al. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J 2007;154:596–602.
43. Lang SM, Shugh S, Mazur W, Sticka JJ, Rattan MS, Jeffries JL, et al. Myocardial fibrosis and left ventricular dysfunction in Duchenne muscular dystrophy carriers using cardiac magnetic resonance imaging. Pediatr Cardiol 2015;36:1495–1501.