Journal of Rare Cardiovascular Diseases

Desmin – related myopathy is a chronic neuromuscular disorder caused by a mutation of desmin, an intermediate filament of the myocardial, skeletal, and smooth muscles. Clinical manifestations include skeletal myopathy, cardiac abnormalities, conduction disorders, or various types of arrhythmias. We present a case of a 33‑year‑old male with an end – stage restrictive cardiomyopathy and peripheral muscles myopathy caused by desmin mutation. JRCD 2013; 1 (5): 20–24

Desminopathy, heart failure, myopathy, desmin mutation

Kushwaha SS, Fallon JT, Fuster V. Restrictive cardiomyopathy.N EnglJ Med. 1997; 336: 267–76.

Goebel HH, Bornemann A. Desmin pathology in neuromuscular diseases. Virchows Arch B Cell Pathol Incl Mol Pathol1993;64:127–35.

Kostera‑Pruszczyk A, Pruszczyk P, Kaminska A, et al. Diversity of cardiomyopathy phenotypes caused by mutations in desmin. Int J Cardiol 2008;131:146–147.

van Spaendonck‑Zwarts KY, van Hessem L, Jongbloed JDH, et al. Desmin‑related myopathy. Clin Genet 2011;80:354–366.

Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circulation

;93:841–2.

Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2008;29:270–276.

Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies. Circulation 2006;113:1807–16.

Benotti JR, Grossman W, Cohn PF. Clinical profile of restrictive cardiomyopathy. Circulation 1980; 61:1206–1212.

Miura K, Nakagawa H, Morikawa Y, et al. Epidemiology of idiopathic cardiomyopathy in Japan: Results from a nationwide survey. Heart 2002;87:126–130.

Agozzino L, Thomopoulos K, Esposito S, et al. Patologia del trapianto cardiaco (Studio morfologico di 1246 biopsie endomiocardiche [BEM] da 167 trapianti cardiaci). Cause di mortalità precoce, intermedia e tardiva. Pathologica 1999;91:89–100.

Nuget AW, Daubeney P, Chondros P, et al. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 2003;248:1639–46.

Lipschutz SE, Sleeper LA, Towbin JA, et al. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med 2003;348:1647–55.

Malcic I, Jelusic M, Kniewald H, et al. Epidemiology of cardiomyopathies in children and adolescents: a retrospective study. Cardiol Young 2002;12:253–9.

Russo LM, Webber SA. Idiopathic restrictive cardiomyopathy in children. Heart 2005;91:1199–1202.

Ammash NM, Seward JB, Bailey KR, et al. Clinical profile and outcome of idiopathic restrictive cardiomyopathy. Circulation 2000;101:2490–2496.

Hirota Y, Shimizu G, Kita Y, et al. Spectrum of restrictive cardiomyopathy: report of the national survey in Japan. Am Heart J 1990;120:188–94.

Nihoyannopoulos P, Dawson D. Restrictive cardiomyopathies. Eur J Echocardiogr 2009;10,23–33.

Nagueh SF, Appleton CP, Gillebert TC, et al. Recommendations for the evaluation of left ventricular diastolic function by echocardiography. Eur J Echocardiogr 2009;10,165–193.

Kramer CM, Barkhausen J, Flamm SD, et al. Standardized cardiovascular magnetic resonance imaging (CMR) protocols, society for cardiovascular magnetic resonance: board of trustees task force on standardized protocols. J Cardiovasc Magn Reson 2008;10:35.

Hundley WG, Bluemke D, Bogaert JG, et al. Society for Cardiovascular Magnetic Resonance guidelines for reporting cardiovascular magnetic resonance examinations. J Cardiovasc Magn Reson 2009;11:5.

Leong DP, De Pasquale CG, Selvanayagam JB. Heart failure with normal ejection fraction: The complementary roles of echocardiography and CMR imaging. JACC Cardiovasc Imaging 2010; 3:409–20.

Celletti F, Fattori R, Napoli G, et al. Assessment of restrictive cardiomyopathy of amyloid or idiopathic etiology by magnetic resonance imaging. Am J Cardiol 1999;83:798–801.

Quarta G, Sado DM, BM, Moon JC. Cardiomyopathies: focus on cardiovascular magnetic resonance. Br J Radiol 2011;84:296 305.

Keren A, Billingham ME, PoppRL.) Features of mildly dilated congestive cardiomyopathy compared with idiopathic restrictive cardiomyopathy and typical dilated cardiomyopathy. J Am Soc Echocardiogr 1988;1:78–87.

Cooper LT, Baughman KL, Feldman AM, et al. The role of endomyocardial biopsy in the management of cardiovascular disease: a scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology. Endorsed by the Heart Failure Society of America and the Heart Failure Association of the European Society of Cardiology. J Am Coll Cardiol 2007;50:1914–31.

Fuchs E, Weber K. Intermediate filaments: structure, dynamics, function, and disease. Annu Rev Biochem. 1994;63:345.

Goldfarb LG, Dalakas MC. Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest 2009: 119: 1806–1813.

Dagvadorj A, Olive M, Urtizberea JA et al. A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin. J Neurol 2004;251:143–149.

Dalakas MC, Park KY, Semino‑Mora C, et al. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 2000;342:770–80.

Goebel HH. Desmin‑related neuromuscular disorders. Muscle Nerve 1995: 18: 1306–1320.

Taylor MR, Slavov D, Ku L, et al. Prevalence of desmin mutations in dilated cardiomyopathy. Circulation 2007;115:1244 1251.

Olive M, Odgerel Z, Martinez A, et al. Clinical and myopathological evaluation of early and late‑onset subtypes of myofibrillar myopathy. Neuromuscul Disord 2011;21:533–542.

Arias M, Pardo J, Blanco‑Arias P, et al. Distinct phenotypic features and gender‑specific disease manifestations in a Spanish family with desmin L370P mutation. Neuromuscul Disord 2006;16:498–503.

Dagvadorj A, Goudeau B, Hilton‑Jones D et al. Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c‑terminal alpha‑helical segment. Muscle Nerve 2003;27:669–675.

Arbustini E, Morbini P, Grasso M, et al. Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin‑immunoreactive material deposits. J Am Coll Cardiol. 1998;31:645–53.

McMurray JVJ, Adamopoulos S, Anker SD, et al. ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure 2012. EHJ 2012;33:1787–1847.

Ruiz‑Cano MJ, Delgado JF, Jimenez C, et al. Successful heart transplantation in patients with inherited myopathies associated with end‑stage cardiomyopathy. ransplant Proc 2003;35:1513–5.