Left Ventricular Noncompaction in a Family with Lamin A/C Gene Mutation

被引：21

作者：

Parent, John J. ^{[1
]}

Towbin, Jeffrey A. ^{[1
]}

Jefferies, John L. ^{[1
]}

机构：

[1] Cincinnati Childrens Hosp Med Ctr, Inst Heart, Cincinnati, OH 45229 USA

来源：

TEXAS HEART INSTITUTE JOURNAL | 2015年 / 42卷 / 01期

关键词：

Arginine/genetics; cardiomyopathies/genetics; cysteine/genetics; echocardiography; genetic testing; genotype; lamin C/genetics; lamin type A/genetics; laminopathy; left ventricular noncompaction; magnetic resonance imaging; mutation; pedigree; phenotype; proteins/genetics; CONDUCTION-SYSTEM DISEASE; DILATED CARDIOMYOPATHY; TRANSPLANT RECIPIENTS; LMNA MUTATIONS; NON-COMPACTION; SUDDEN-DEATH; PHENOTYPE;

D O I：

10.14503/THIJ-13-3843

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Left ventricular noncompaction is a rare type of cardiomyopathy, the genetics of which are poorly understood to date. Lamin A/C gene mutations have been associated with dilated cardiomyopathy and diseases of the conduction system, but rarely in left ventricular noncompaction cardiomyopathy. This report describes the cases of 4 family members with a lamin A/C gene mutation, 3 of whom had phenotypic expression of left ventricular noncompaction.

引用

页码：73 / 76

页数：4

共 22 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] Mortality and Sudden Death in Pediatric Left Ventricular Noncompaction in a Tertiary Referral Center [J].

Brescia, Samuel T. ;

Rossano, Joseph W. ;

Pignatelli, Ricardo ;

Jefferies, John L. ;

Price, Jack F. ;

Decker, Jamie A. ;

Denfield, Susan W. ;

Dreyer, W. Jeffrey ;

Smith, O'Brian ;

Towbin, Jeffrey A. ;

Kim, Jeffrey J. .

CIRCULATION, 2013, 127 (22) :2202-2208

[4] 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

[5] 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

[6] Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations [J].

Hermida-Prieto, M ;

Monserrat, L ;

Castro-Beiras, A ;

Laredo, R ;

Soler, R ;

Peteiro, J ;

Rodríguez, E ;

Bouzas, B ;

Alvarez, N ;

Muñiz, J ;

Crespo-Leiro, M .

AMERICAN JOURNAL OF CARDIOLOGY, 2004, 94 (01) :50-54

[7] Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline [J].

Hershberger, Ray E. ;

Lindenfeld, Joann ;

Mestroni, Luisa ;

Seidman, Christine E. ;

Taylor, Matthew R. G. ;

Towbin, Jeffrey A. .

JOURNAL OF CARDIAC FAILURE, 2009, 15 (02) :83-97

[8] 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

[9] Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease [J].

Jakobs, PM ;

Hanson, EL ;

Crispell, KA ;

Toy, W ;

Keegan, H ;

Schilling, K ;

Icenogle, TB ;

Litt, M ;

Hershberger, RE .

JOURNAL OF CARDIAC FAILURE, 2001, 7 (03) :249-256

[10] Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy [J].

Jenni, R ;

Oechslin, E ;

Schneider, J ;

Jost, CA ;

Kaufmann, PA .

HEART, 2001, 86 (06) :666-671

← 1 2 3 →