Cardiac involvement in a female carrier of Duchenne muscular dystrophy

International Journal of Cardiology
Thomas WalcherJan Torzewski

Abstract

A 42 year-old female carrier of Duchenne muscular dystrophy (DMD) was referred with suspected subacute myocarditis and non-sustained ventricular tachycardia. Echochardiography and cardiac catheterization revealed severely reduced left ventricular function (LVF). Coronary artery disease was excluded. Cardiac magnetic resonance imaging showed transmural, intramural and subepicardial late gadolinium enhancement. Myocardial biopsy excluded viral infection and showed severe myopathic changes with abnormal expression of dystrophin and utrophin. Moleculargenetic analysis of the DMD gene revealed frameshift duplication of exon 2. The patient received conventional heart failure therapy, implantable cardioverter/defibrillator-implantation and prednisolone to attenuate cardiac degradation. 6 months later she had improved clinically though LVF was still severely reduced.

References

May 1, 1996·JAMA : the Journal of the American Medical Association·L PolitanoL I Comi
Mar 7, 2002·Lancet·Alan E H Emery
Aug 23, 2005·European Journal of Heart Failure·Oliver ZimmermannJan Torzewski
Aug 19, 2006·Human Mutation·S J WhiteJ T den Dunnen
Dec 3, 2008·International Journal of Cardiology·Andrew J S Coats

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Citations

Sep 26, 2012·Neuromuscular Disorders : NMD·Sean C ForbesKrista Vandenborne
Jan 15, 2014·Nature Reviews. Cardiology·Josef Finsterer, Linda Cripe
Jul 11, 2014·Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance·Vincenzo GiglioMarco Di Gennaro
May 18, 2012·International Journal of Cardiology·Josef FinstererChristoph Schukro
Jan 14, 2012·Physical Medicine and Rehabilitation Clinics of North America·Randolph K OttoSeth D Friedman
Oct 12, 2010·International Journal of Cardiology·Josef FinstererPaul Wexberg
Dec 19, 2015·Stem Cells International·Giacomo PalazzoloMaurilio Sampaolesi
Sep 24, 2016·Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance·Paul WexbergFranz Weidinger
Apr 20, 2012·Cell Transplantation·M CassanoM Sampaolesi
Dec 15, 2010·Yonsei Medical Journal·Tae-Jin SongYoung-Chul Choi
Jun 5, 2018·Intractable & Rare Diseases Research·Josef FinstererKlaus Wagner
Oct 28, 2020·Nature Cell Biology·Yaohua ZhangLiuqing Yang
Aug 14, 2021·Frontiers in Neurology·Tuva Å SolheimJohn Vissing

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