Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: a case study

Neuromuscular Disorders : NMD
Masahiro TsujiNobuo Kohara

Abstract

Only three facioscapulohumeral muscular dystrophy (FSHD) patients have been reported to have cardiomyopathy. An asymptomatic 38-year-old man was incidentally found to have electrocardiographic abnormalities. His echocardiogram demonstrated mild dilatation of the left ventricle and poor contractility. Cardiac histopathology indicated hypertrophic cardiomyopathy. Later he developed muscle weakness in the right arm. Scapular winging and asymmetrical facial weakness were evident. Muscle biopsy at the age of 44 years showed myopathic changes consistent with FSHD. His daughter had symptoms of infantile FSHD, which was genetically confirmed. This is the first report of an FSHD patient with biopsy-proven cardiomyopathy.

References

Jan 1, 1991·European Archives of Psychiatry and Clinical Neuroscience·P Berlit, B Stegaru-Hellring
Dec 9, 2000·Cardiology·J Finsterer, C Stöllberger
Nov 20, 2004·Cardiology·Josef FinstererGerhard Meng
Jul 13, 2005·Circulation·Robert Roberts, Ulrich Sigwart
Nov 3, 2005·Nature Clinical Practice. Cardiovascular Medicine·Elizabeth M McNally, Heather MacLeod
Mar 2, 2006·Muscle & Nerve·Rabi Tawil, Silvère M Van Der Maarel
Jun 20, 2008·Cardiology in Review·Radhakrishnan Ramaraj

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Citations

Jun 22, 2012·Journal of Human Genetics·Melanie Ehrlich, Michelle Lacey
Sep 10, 2013·Revue neurologique·E Salort-CampanaS Attarian
Feb 26, 2013·Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology·Josef FinstererKarim Wahbi
Aug 22, 2012·Muscle & Nerve·Anhar HassanNeeraj Kumar
Jul 29, 2015·Journal of Cellular Physiology·Carla DibYegor S Vassetzky
Jan 1, 2013·Rare Diseases·Guido StadlerWoodring E Wright
Dec 22, 2014·Journal of the Neurological Sciences·Sara SimeoniAnna Scalise
Apr 11, 2014·Journal of Child Neurology·Małgorzata DorobekIrena Hausmanowa-Petrusewicz
May 26, 2017·Journal of Clinical Neuromuscular Disease·Fabien LabombardaPaul Milliez
Apr 30, 2019·Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance·Edyta BlaszczykJeanette Schulz-Menger
Jun 11, 2021·Frontiers in Neurology·Allison Ducharme-SmithMargherita Milone

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