Neuromuscular Disorders and Noncompaction Cardiomyopathy
作者： Josef Finsterer , Claudia Stöllberger
DOI: 10.1007/978-3-030-17720-1_3
关键词:
摘要: Noncompaction cardiomyopathy (NCCM), also known as left ventricular hypertrabeculation (LVHT), occurs with an increased prevalence in patients a neuromuscular disorder (NMD). The first NMD patient LVHT was Becker muscular dystrophy, reported 1996. Since then, found number of other NMDs. most prevalent the NMDs are mitochondrial disorders (MIDs), myotonic dystrophy type-1 (MD1), dystrophinopathies, Barth syndrome, titinopathies, and laminopathies: which has been frequently so far MIDs, MD1. Mutated genes detected include DMD, TAZ, DTNA, mtDNA (ND1, tRNA(Leu), COX3, ND4), LDB3, DMPK, LMNA, AMPD1, PMP22, MYH7, CNBP, GLA, RYR1, DNAJC19, MYH7B, LAMP2, TTN, GARS, SDHD, HADHB, PLEC1, MIPEP, POMPT2. present since is associated complications outcome depends on presence/absence NMD, it essential that all prospectively investigated for NMD. Management
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Stöllberger C, Finsterer J, Kopsa W, Jaksch M, Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy. Canadian Journal of Cardiology. ,vol. 17, pp. 464- ,(2001)
Claudia Stöllberger, Gerhard Blazek, Martin Gessner, Katharina Bichler, Christian Wegner, Josef Finsterer, Neuromuscular comorbidity, heart failure, and atrial fibrillation as prognostic factors in left ventricular hypertrabeculation/noncompaction Herz. ,vol. 40, pp. 906- 911 ,(2015) , 10.1007/S00059-015-4310-7
Tiina Ojala, Irmeli Nupponen, Carola Saloranta, Taisto Sarkola, Priya Sekar, Anniina Breilin, Tiina Tyni, Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein. European Journal of Pediatrics. ,vol. 174, pp. 1689- 1692 ,(2015) , 10.1007/S00431-015-2574-9
Pieter Van Der Starre, Tobias Deuse, Chad Pritts, Carlos Brun, Hannes Vogel, Philip Oyer, Late profound muscle weakness following heart transplantation due to danon disease Muscle & Nerve. ,vol. 47, pp. 135- 137 ,(2013) , 10.1002/MUS.23517
Robert W. Taylor, Charlotte L. Alston, Camilla Ceccatelli Berti, Emma L. Blakely, Monika Oláhová, Langping He, Colin J. McMahon, Simon E. Olpin, Iain P. Hargreaves, Cecilia Nolli, Robert McFarland, Paola Goffrini, Maureen J. O’Sullivan, A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency Human Genetics. ,vol. 134, pp. 869- 879 ,(2015) , 10.1007/S00439-015-1568-Z
C. T. Spencer, R. M. Bryant, J. Day, I. L. Gonzalez, S. D. Colan, W. R. Thompson, J. Berthy, S. P. Redfearn, B. J. Byrne, Cardiac and Clinical Phenotype in Barth Syndrome Pediatrics. ,vol. 118, ,(2006) , 10.1542/PEDS.2005-2667
Shenghua Liu, Yuanyuan Bai, Jie Huang, Hong Zhao, Xiaoling Zhang, Shengshou Hu, Yingjie Wei, Do mitochondria contribute to left ventricular non-compaction cardiomyopathy? New findings from myocardium of patients with left ventricular non-compaction cardiomyopathy. Molecular Genetics and Metabolism. ,vol. 109, pp. 100- 106 ,(2013) , 10.1016/J.YMGME.2013.02.004
Matteo Vatta, Bhagyalaxmi Mohapatra, Shinawe Jimenez, Ximena Sanchez, Georgine Faulkner, Zeev Perles, Gianfranco Sinagra, Jiuann-Huey Lin, Thuy M Vu, Qiang Zhou, Karla R Bowles, Andrea Di Lenarda, Lisa Schimmenti, Michelle Fox, Michelle A Chrisco, Ross T Murphy, William McKenna, Perry Elliott, Neil E Bowles, Ju Chen, Giorgio Valle, Jeffrey A Towbin, Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. Journal of the American College of Cardiology. ,vol. 42, pp. 2014- 2027 ,(2003) , 10.1016/J.JACC.2003.10.021
Wesley Thevathasan, Waney Squier, David H. MacIver, David A. Hilton, Edward Fathers, David Hilton-Jones, Oculopharyngodistal myopathy--a possible association with cardiomyopathy. Neuromuscular Disorders. ,vol. 21, pp. 121- 125 ,(2010) , 10.1016/J.NMD.2010.10.002
Karim Wahbi, Christophe Meune, Guillaume Bassez, Pascal Laforêt, Olivier Vignaux, Julien Marmursztejn, Henri Marc Bécane, Bruno Eymard, Denis Duboc, Left ventricular non-compaction in a patient with myotonic dystrophy type 2. Neuromuscular Disorders. ,vol. 18, pp. 331- 333 ,(2008) , 10.1016/J.NMD.2007.11.012