Low-symptomatic skeletal muscle disease in patients with a cardiac disease - Diagnostic approach in skeletal muscle laminopathies

被引:8
作者
Madej-Pilarczyk, Agnieszka [1 ]
Marchel, Michal [2 ]
Ochman, Karolina [3 ]
Cegielska, Joanna [4 ]
Steckiewicz, Roman [2 ]
机构
[1] Polish Acad Sci, Mossakowski Med Res Ctr, Neuromuscular Unit, Pawinskiego 5, PL-02106 Warsaw, Poland
[2] Med Univ Warsaw, Dept Cardiol 1, Banacha 1a, Warsaw, Poland
[3] Clin & Med Labs INVICTA, Genet Clin, Gdansk, Poland
[4] Med Univ Warsaw, Bielanski Hosp, Dept Neurol, Warsaw, Poland
关键词
LMNA gene; Lamin A/C; Laminopathy; Emery-Dreifuss muscular dystrophy; Cardiac involvement; DREIFUSS MUSCULAR-DYSTROPHY; LAMIN A/C GENE; DILATED CARDIOMYOPATHY; VENTRICULAR-ARRHYTHMIAS; LMNA-MUTATIONS; IDENTIFICATION; INVOLVEMENT; MANAGEMENT; SPECTRUM;
D O I
10.1016/j.pjnns.2017.09.006
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Mild skeletal muscle symptoms might be accompanied with severe cardiac disease, sometimes indicating a serious inherited disorder. Very often it is a cardiologist who refers a patient with cardiomyopathy and/or cardiac arrhythmia and discrete muscle disease for neurological consultation, which helps to establish a proper diagnosis. Here we present three families in which a diagnosis of skeletal muscle laminopathy was made after careful examination of the members, who presented with cardiac arrhythmia and/or heart failure and a mild skeletal muscle disease, which together with positive family history allowed to direct the molecular diagnostics and then provide appropriate treatment and counseling. (c) 2017 Published by Elsevier Sp. z o.o. on behalf of Polish Neurological Society.
引用
收藏
页码:174 / 180
页数:7
相关论文
共 27 条
[1]   Supraventricular and Ventricular Arrhythmias Are Related to the Type of Myotonic Dystrophy but Not to Disease Duration or Neurological Status [J].
Bienias, Piotr ;
Lusakowska, Anna ;
Ciurzynski, Michal ;
Rymarczyk, Zuzanna ;
Irzyk, Katarzyna ;
Kurnicka, Katarzyna ;
Kaminska, Anna ;
Pruszczyk, Piotr .
PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY, 2016, 39 (09) :959-968
[2]   IDENTIFICATION OF A NOVEL X-LINKED GENE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY [J].
BIONE, S ;
MAESTRINI, E ;
RIVELLA, S ;
MANCINI, M ;
REGIS, S ;
ROMEO, G ;
TONIOLO, D .
NATURE GENETICS, 1994, 8 (04) :323-327
[3]   Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy [J].
Bonne, G ;
Di Barletta, MR ;
Varnous, S ;
Bécane, HM ;
Hammouda, EH ;
Merlini, L ;
Muntoni, F ;
Greenberg, CR ;
Gary, F ;
Urtizberea, JA ;
Duboc, D ;
Fardeau, M ;
Toniolo, D ;
Schwartz, K .
NATURE GENETICS, 1999, 21 (03) :285-288
[4]  
Bonne G, 2013, HAND CLINIC, V113, P1367, DOI 10.1016/B978-0-444-59565-2.00007-1
[5]   Natural history of Danon disease [J].
Boucek, Dana ;
Jirikowic, Jean ;
Taylor, Matthew .
GENETICS IN MEDICINE, 2011, 13 (06) :563-568
[6]   Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: A phenotypic study [J].
Charniot, JC ;
Desnos, M ;
Zerhouni, K ;
Bonnefont-Rousselot, D ;
Albertini, JP ;
Salama, JZ ;
Bassez, G ;
Komajda, M ;
Artigou, JY .
EUROPEAN JOURNAL OF HEART FAILURE, 2006, 8 (03) :249-256
[7]   Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. [J].
Fatkin, D ;
MacRae, C ;
Sasaki, T ;
Wolff, MR ;
Porcu, M ;
Frenneaux, M ;
Atherton, J ;
Vidaillet, HJ ;
Spudich, S ;
De Girolami, U ;
Seidman, JG ;
Seidman, CE ;
Muntoni, F ;
Muehle, G ;
Johnson, W ;
McDonough, B .
NEW ENGLAND JOURNAL OF MEDICINE, 1999, 341 (23) :1715-1724
[8]   Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D [J].
Fayssoil, Abdallah ;
Ogna, Adam ;
Chaffaut, Cendrine ;
Chevret, Sylvie ;
Guimaraes-Costa, Raquel ;
Leturcq, France ;
Wahbi, Karim ;
Prigent, Helene ;
Lofaso, Frederic ;
Nardi, Olivier ;
Clair, Bernard ;
Behin, Anthony ;
Stojkovic, Tanya ;
Laforet, Pascal ;
Orlikowski, David ;
Annane, Djillali .
PLOS ONE, 2016, 11 (04)
[9]   The heart in human dystrophinopathies [J].
Finsterer, J ;
Stöllberger, C .
CARDIOLOGY, 2003, 99 (01) :1-19
[10]   Review of Cardiac Disease in Nemaline Myopathy [J].
Finsterer, Josef ;
Stoellberger, Claudia .
PEDIATRIC NEUROLOGY, 2015, 53 (06) :473-477