Sudden cardiac death in a patient with lamin A/C mutation in the absence of dilated cardiomyopathy or conduction disease

被引:10
作者
Ehlermann, Philipp [1 ]
Lehrke, Stephanie [1 ]
Papavassiliu, Theano [2 ]
Meder, Benjamin [1 ]
Borggrefe, Martin [2 ]
Katus, Hugo A. [1 ]
Schimpf, Rainer [2 ]
机构
[1] Univ Klinikum Heidelberg, Innere Med Kardiol 3, D-69120 Heidelberg, Germany
[2] Univ Med Mannheim, Med Klin 1, Mannheim, Germany
关键词
CARDIOVASCULAR MAGNETIC-RESONANCE; MUSCULAR-DYSTROPHY; GENE-MUTATIONS; SYSTEM DISEASE; CLINICAL CHARACTERISTICS; DELAYED ENHANCEMENT; CHROMOSOME; 1P1-1Q1; FAMILY; FREQUENCY; RISK;
D O I
10.1007/s00392-011-0289-0
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:547 / 551
页数:5
相关论文
共 30 条
[1]   Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy [J].
Antoniades, Loizos ;
Eftychiou, Christos ;
Kyriakides, Theodoros ;
Christodoulou, Kyproula ;
Katritsis, Demosthenes G. .
JOURNAL OF INTERVENTIONAL CARDIAC ELECTROPHYSIOLOGY, 2007, 19 (01) :1-7
[2]   Reviews of translational medicine and genomics in cardiovascular disease: New disease taxonomy and therapeutic implications - Cardiomyopathies: Therapeutics based on molecular phenotype [J].
Ashrafian, Houman ;
Watkins, Hugh .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2007, 49 (12) :1251-1264
[3]   Laminopathy presenting as familial atrial fibrillation [J].
Beckmann, Britt Maria ;
Holinski-Feder, Elke ;
Walter, Maggie C. ;
Haserueck, Nadine ;
Reithmann, Christopher ;
Hinterseer, Martin ;
Wilde, Arthur A. ;
Kaeaeb, Stefan .
INTERNATIONAL JOURNAL OF CARDIOLOGY, 2010, 145 (02) :394-396
[4]   Clinical and genetic issues in familial dilated cardiomyopathy [J].
Burkett, EL ;
Hershberger, RE .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2005, 45 (07) :969-981
[5]   Human laminopathies: nuclei gone genetically awry [J].
Capell, Brian C. ;
Collins, Francis S. .
NATURE REVIEWS GENETICS, 2006, 7 (12) :940-952
[6]   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
[7]   EVOLUTION OF A HEREDITARY CARDIAC CONDUCTION AND MUSCLE DISORDER - A STUDY INVOLVING A FAMILY WITH 6 GENERATIONS AFFECTED [J].
GRABER, HL ;
UNVERFERTH, DV ;
BAKER, PB ;
RYAN, JM ;
BABA, N ;
WOOLEY, CF .
CIRCULATION, 1986, 74 (01) :21-35
[8]   Frequency and phenotypes of familial dilated cardiomyopathy [J].
Grünig, E ;
Tasman, JA ;
Kücherer, H ;
Franz, W ;
Kübler, W ;
Katus, HA .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 1998, 31 (01) :186-194
[9]   Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption [J].
Gupta, Pallavi ;
Bilinska, Zofia T. ;
Sylvius, Nicolas ;
Boudreau, Emilie ;
Veinot, John P. ;
Labib, Sarah ;
Bolongo, Pierrette M. ;
Hamza, Akil ;
Jackson, Tracy ;
Ploski, Rafal ;
Walski, Michal ;
Grzybowski, Jacek ;
Walczak, Ewa ;
Religa, Grzegorz ;
Fidzianska, Anna ;
Tesson, Frederique .
BASIC RESEARCH IN CARDIOLOGY, 2010, 105 (03) :365-377
[10]   A GENE DEFECT THAT CAUSES CONDUCTION SYSTEM DISEASE AND DILATED CARDIOMYOPATHY MAPS TO CHROMOSOME 1P1-1Q1 [J].
KASS, S ;
MACRAE, C ;
GRABER, HL ;
SPARKS, EA ;
MCNAMARA, D ;
BOUDOULAS, H ;
BASSON, CT ;
BAKER, PB ;
CODY, RJ ;
FISHMAN, MC ;
COX, N ;
KONG, A ;
WOOLEY, CF ;
SEIDMAN, JG ;
SEIDMAN, CE .
NATURE GENETICS, 1994, 7 (04) :546-551