A Cardio-Neurological Form of Laminopathy: Dilated Cardiomyopathy with Permanent Partial Atrial Standstill and Axonal Neuropathy

被引：15

作者：

Duparc, Alexandre ^{[1
]}

Cintas, Pascal ^{[2
]}

Somody, Elisabeth

Bieth, Eric ^{[3
]}

Richard, Pascale ^{[4
,5
]}

Maury, Philippe ^{[1
]}

Delay, Marc ^{[1
]}

机构：

[1] CHU Rangueil, Unite Rythmol & Stimulat Cardiaque, F-31059 Toulouse 9, France

[2] CHU Rangueil, Serv Neurol, F-31059 Toulouse 9, France

[3] Hop Purpan, Serv Genet Med, Toulouse, France

[4] Unite Fonct Cardiogenet & Myogenet, Paris, France

[5] Univ Paris 06, INSERM, U 582, CHU Pitie Salpetriere, Paris, France

来源：

PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY | 2009年 / 32卷 / 03期

关键词：

laminopathy; partial atrial standstill; dilated cardiomyopathy; LAMIN A/C GENE; CONDUCTION-SYSTEM; SUDDEN-DEATH; CLINICAL CHARACTERISTICS; ATRIOVENTRICULAR-BLOCK; AUTOSOMAL-DOMINANT; MUTATION; DISEASE;

D O I：

10.1111/j.1540-8159.2008.02254.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We present the first form of laminopathy connected with a new mutation of the lamin A/C gene expressed by dilated cardiomyopathy and partial atrial standstill associated with Charcot-Marie-Tooth type 2 axonal neuropathy. The rapid development of the cardiac disease was controlled by medical treatment and resynchronization therapy associated with a defibrillator. (PACE 2009; 32:410-415).

引用

页码：410 / 415

页数：6

共 21 条

[1] Autosomal dominant dilated cardiomyopathy with atrioventricular block: A lamin A/C defect-related disease [J].

Arbustini, E ;

Pilotto, A ;

Repetto, A ;

Grasso, M ;

Negri, A ;

Diegoli, M ;

Campana, C ;

Scelsi, L ;

Baldini, E ;

Gavazzi, A ;

Tavazzi, L .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2002, 39 (06) :981-990

[2] High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation [J].

Bécane, HM ;

Bonne, G ;

Varnous, S ;

Muchir, A ;

Ortega, V ;

Hammouda, E ;

Urtizberea, JA ;

Lavergne, T ;

Fardeau, M ;

Eymard, B ;

Weber, S ;

Schwartz, K ;

Duboc, D .

PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY, 2000, 23 (11) :1661-1666

[3] Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement [J].

Brodsky, GL ;

Muntoni, F ;

Miocic, S ;

Sinagra, G ;

Sewry, C ;

Mestroni, L .

CIRCULATION, 2000, 101 (05) :473-476

[4] Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype [J].

Charniot, JC ;

Pascal, C ;

Bouchier, C ;

Sébillon, P ;

Salama, J ;

Duboscq-Bidot, L ;

Peuchmaurd, M ;

Desnos, M ;

Artigou, JY ;

Komajda, M .

HUMAN MUTATION, 2003, 21 (05) :473-481

[5] Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse [J].

De Sandre-Giovannoli, A ;

Chaouch, M ;

Kozlov, S ;

Vallat, JM ;

Tazir, M ;

Kassouri, N ;

Szepetowski, P ;

Hammadouche, T ;

Vandenberghe, A ;

Stewart, CL ;

Grid, D ;

Lévy, N .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (03) :726-736

[6] Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy [J].

di Barletta, MR ;

Ricci, E ;

Galluzzi, G ;

Tonali, P ;

Mora, M ;

Morandi, L ;

Romorini, A ;

Voit, T ;

Orstavik, KH ;

Merlini, L ;

Trevisan, C ;

Biancalana, V ;

Housmanowa-Petrusewicz, I ;

Bione, S ;

Ricotti, R ;

Schwartz, K ;

Bonne, G ;

Toniolo, D .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (04) :1407-1412

[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] A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill [J].

Groenewegen, WA ;

Firouzi, M ;

Bezzina, CR ;

Vliex, S ;

van Langen, IM ;

Sandkuijl, L ;

Smits, JPP ;

Hulsbeek, M ;

Rook, MB ;

Jongsma, HJ ;

Wilde, AAM .

CIRCULATION RESEARCH, 2003, 92 (01) :14-22

[9] A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation [J].

Hershberger, RE ;

Hanson, EL ;

Jakobs, PM ;

Keegan, H ;

Coates, K ;

Bousman, S ;

Litt, M .

AMERICAN HEART JOURNAL, 2002, 144 (06) :1081-1086

[10] Comparative effects of permanent biventricular and right-univentricular pacing in heart failure patients with chronic atrial fibrillation [J].

Leclercq, C ;

Walker, S ;

Linde, C ;

Clementy, J ;

Marshall, AJ ;

Ritter, P ;

Djiane, P ;

Mabo, P ;

Levy, T ;

Gadler, F ;

Bailleul, C ;

Daubert, JC .

EUROPEAN HEART JOURNAL, 2002, 23 (22) :1780-1787

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