PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis

被引：17

作者：

Aggarwal, Varun ^{[1
]}

Dobrolet, Nancy ^{[2
]}

Fishberger, Steven ^{[2
]}

Zablah, Jenny ^{[1
]}

Jayakar, Parul ^{[3
]}

Ammous, Zineb ^{[3
]}

机构：

[1] Miami Childrens Hosp, Dept Pediat Med Educ, Miami, FL 33155 USA

[2] Miami Childrens Hosp, Dept Pediat Cardiol, Miami, FL 33155 USA

[3] Miami Childrens Hosp, Dept Med Genet, Miami, FL 33155 USA

来源：

ANNALS OF PEDIATRIC CARDIOLOGY | 2015年 / 8卷 / 02期

关键词：

Arrhythmia; hypertrophic cardiomyopathy; PRKAG; 2; mutation; WPW syndrome;

D O I：

10.4103/0974-2069.154149

中图分类号：

R5 [内科学];

学科分类号：

1002 [临床医学]; 100201 [内科学];

摘要：

Mutations in PRKAG2 gene that regulates the 2 subunit of the adenosine monophosphate (AMP) dependent protein kinase have been associated with the development of atrioventricular (AV) accessory pathways, cardiac hypertrophy, and conduction system abnormalities. These patients can potentially be misdiagnosed as hypertrophic cardiomyopathy (HOCM) and/or Wolf-Parkinson White (WPW) syndrome due to similar clinical phenotype. Early recognition of this disease entity is very important as ablation of suspected accessory pathways is not effective and the natural history of the disease is very different from HOCM and WPW syndrome.

引用

页码：153 / 156

页数：4

共 13 条

[1]

WOLFF-PARKINSON-WHITE SYNDROME AND SUPRAVENTRICULAR TACHYCARDIA DURING INFANCY - MANAGEMENT AND FOLLOW-UP [J].

DEAL, BJ ;

KEANE, JF ;

GILLETTE, PC ;

GARSON, A .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 1985, 5 (01) :130-135

[2]

Wolff-Parkinson-White syndrome - A genetic disease? [J].

Doevendans, PA ;

Wellens, HJ .

CIRCULATION, 2001, 104 (25) :3014-3016

[3]

Is Wolff-Parkinson-White syndrome a genetic disease? [J].

Ehtisham, J ;

Watkins, H .

JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, 2005, 16 (11) :1258-1262

[4]

PRKAG2 cardiac syndrome:: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy [J].

Gollob, MH ;

Green, MS ;

Tang, ASL ;

Roberts, R .

CURRENT OPINION IN CARDIOLOGY, 2002, 17 (03) :229-234

[5]

Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy [J].

Gollob, MH ;

Seger, JJ ;

Gollob, TN ;

Tapscott, T ;

Gonzales, O ;

Bachinski, L ;

Roberts, R .

CIRCULATION, 2001, 104 (25) :3030-3033

[6]

Identification of a gene responsible for familial Wolff-Parkinson-White syndrome [J].

Gollob, MH ;

Green, MS ;

Tang, ASL ;

Gollob, T ;

Karibe, A ;

Roberts, R ;

Ahmad, F ;

Lozado, R ;

Shah, G ;

Fananapazir, L ;

Bachinski, LL ;

Roberts, R ;

Tapscott, T ;

Gonzales, O ;

Begley, D ;

Mohiddin, S .

NEW ENGLAND JOURNAL OF MEDICINE, 2001, 344 (24) :1823-1831

[7]

Dealing with energy demand: the AMP activated protein kinase [J].

Kemp, BE ;

Mitchelhill, KI ;

Stapleton, D ;

Michell, BJ ;

Chen, ZP ;

Witters, LA .

TRENDS IN BIOCHEMICAL SCIENCES, 1999, 24 (01) :22-25

[8]

FAMILIAL HYPERTROPHIC CARDIOMYOPATHY WITH WOLFF-PARKINSON-WHITE SYNDROME MAPS TO A LOCUS ON CHROMOSOME 7Q3 [J].

MACRAE, CA ;

GHAISAS, N ;

KASS, S ;

DONNELLY, S ;

BASSON, CT ;

WATKINS, HC ;

ANAN, R ;

THIERFELDER, LH ;

MCGARRY, K ;

ROWLAND, E ;

MCKENNA, WJ ;

SEIDMAN, JG ;

SEIDMAN, CE .

JOURNAL OF CLINICAL INVESTIGATION, 1995, 96 (03) :1216-1220

[9]

Shared genetic causes of cardiac hypertrophy in children and adults [J].

Morita, Hiroyuki ;

Rehm, Heidi L. ;

Menesses, Andres ;

McDonough, Barbara ;

Roberts, Amy E. ;

Kucherlapati, Raju ;

Towbin, Jeffrey A. ;

Seidman, J. G. ;

Seidman, Christine E. .

NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (18) :1899-1908

[10]

Hypertrophic cardiomyopathy - Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy [J].

Richard, P ;

Charron, P ;

Carrier, L ;

Ledeuil, C ;

Cheav, T ;

Pichereau, C ;

Benaiche, A ;

Isnard, R ;

Dubourg, O ;

Burban, M ;

Gueffet, JP ;

Millaire, A ;

Desnos, M ;

Schwartz, K ;

Hainque, B ;

Komajda, M .

CIRCULATION, 2003, 107 (17) :2227-2232

← 1 2 →