Potential causes of sudden cardiac death in nemaline myopathy

Italian Journal of Pediatrics

Marlies Frank²  Josef Finsterer¹ 

[1] Krankenanstalt Rudolfstiftung, Postfach 20, Vienna, 1180, Austria;1st Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria

关键词: Ventricular arrhyhtmias;    Sudden cardiac death;    Cardiac involvement;    Myopathy;    Cardiomyopathy;    Non-compaction;   

Others  :  1232889
DOI  :  10.1186/s13052-015-0175-x

 received in 2015-07-02, accepted in 2015-09-21,  发布年份 2015

【 授权许可】

   
2015 Finsterer and Frank.

【 参考文献 】

• [1]Marseglia L, D’Angelo G, Manti S, Salpietro V, Arrigo T, Cavallari V, Gitto E: Sudden cardiac arrest in a child with nemaline myopathy. Ital J Pediatr 2015, 41(1):20. BioMed Central Full Text
• [2]Otsuji Y, Osame M, Tei C, Minagoe S, Kisanuki A, Arikawa K, Saito K, Nomoto K, Kashima T, Tanaka H: Cardiac involvement in congenital myopathy. Int J Cardiol 1985, 9:311-22.
• [3]Jones JG, Factor SM: Familial congestive cardiomyopathy with nemaline rods in heart and skeletal muscle. Virchows Arch A Pathol Anat Histopathol 1985, 408:307-12.
• [4]Taglia A, D’Ambrosio P, Palladino A, Politano L: On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy. Acta Myol 2012, 31:201-3.
• [5]Meier C, Voellmy W, Gertsch M, Zimmermann A, Geissbühler J: Nemaline myopathy appearing in adults as cardiomyopathy. A clinicopathologic study. Arch Neurol 1984, 41:443-5.
• [6]Mir A, Lemler M, Ramaciotti C, Blalock S, Ikemba C: Hypertrophic cardiomyopathy in a neonate associated with nemaline myopathy. Congenit Heart Dis 2012, 7:E37-41.
• [7]Nakajima M, Shima Y, Kumasaka S, Kuwabara K, Migita M, Fukunaga Y: An infant with congenital nemaline myopathy and hypertrophic cardiomyopathy. J Nippon Med Sch 2008, 75:350-3.
• [8]Zawaideh C, Aste M, Cutuli O, Budaj I, Bezante GP, Brunelli C, Balbi M, Valbusa A: Transient left ventricular and stomach apical ballooning syndromes: when the trigger is also a clinical emergency. Am J Emerg Med 2014, 32:108.e1-3.
• [9]Karner J, Keller H, Stöllberger C, Feichtinger H, Finsterer J: Deficiency of mannose-binding lectin, myopathy, calcified endomyocardial fibrosis, and left ventricular noncompaction. Heart Lung 2008, 37:476-8.
• [10]Nagata R, Kamimura D, Suzuki Y, Saito T, Toyama H, Dejima T, Inada H, Miwa Y, Uchino K, Umemura S, Shimizu M: A case of nemaline myopathy with associated dilated cardiomyopathy and respiratory failure. Int Heart J 2011, 52:401-5.
• [11]Gatayama R, Ueno K, Nakamura H, Yanagi S, Ueda H, Yamagishi H, Yasui S: Nemaline myopathy with dilated cardiomyopathy in childhood. Pediatrics 2013, 131:e1986-90.
• [12]Take C, Asano H, Komatsu A, Miyaji M, Iikuni K, Kowa H: An autopsy case of dilated cardiomyopathy associated with congenital nemaline myopathy. Nihon Naika Gakkai Zasshi 2008, 97:413-6.
• [13]Müller-Höcker J, Schäfer S, Mendel B, Lochmüller H, Pongratz D: Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature. Ultrastruct Pathol 2000, 24:407-16.
• [14]Kim SY, Park YE, Kim HS, Lee CH, Yang DH, Kim DS: Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation. J Neurol Sci 2011, 307:171-3.
• [15]D’Amico A, Graziano C, Pacileo G, Petrini S, Nowak KJ, Boldrini R, Jacques A, Feng JJ, Porfirio B, Sewry CA, Santorelli FM, Limongelli G, Bertini E, Laing N, Marston SB: Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. Neuromuscul Disord 2006, 16:548-52.
• [16]Marston SB, Ingwall JS, Glueck SB: Calcium, contractions, and tropomyosin Focus on “divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins”. Physiol Genomics 2002, 9:57-8.
• [17]Skyllouriotis ML, Marx M, Skyllouriotis P, Bittner R, Wimmer M: Nemaline myopathy and cardiomyopathy. Pediatr Neurol 1999, 20:319-21.
• [18]Van Antwerpen CL, Gospe SM Jr, Dentinger MP: Nemaline myopathy associated with hypertrophic cardiomyopathy. Pediatr Neurol 1988, 4:306-8.
• [19]Michele DE, Coutu P, Metzger JM: Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins. Physiol Genomics 2002, 9:103-11.
• [20]Ishibashi-Ueda H, Imakita M, Yutani C, Takahashi S, Yazawa K, Kamiya T, Nonaka I: Congenital nemaline myopathy with dilated cardiomyopathy: an autopsy study. Hum Pathol 1990, 21:77-82.