FOLLOW UP OF A FAMILY WITH ASYMPTOMATIC COMPOUND LONG QT SYNDROME MUTATIONS

被引：0

作者：

Ertugrul, I. ^{[1
]}

Ozer, E. S. ^{[1
]}

Celiker, A. ^{[2
]}

机构：

[1] Hacettepe Univ, Ihsan Dogramaci Childrens Hosp, Dept Pediat Cardiol, Ankara, Turkey

[2] Acibadem Fac Med, Dept Pediat Cardiol, Istanbul, Turkey

来源：

GENETIC COUNSELING | 2014年 / 25卷 / 04期

关键词：

Long QT syndrome; Compound mutation; GENOTYPE;

D O I：

暂无

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Follow up of a family with asymptomatic compound long QT syndrome mutations: Long QT syndromes (LQTS) are a cause of syncope and sudden death and present as a long QT interval on the surface ECG. The mortality of the condition may be quite variable among affected individuals. Hundreds of mutations in more than ten genes are identified as responsible for almost all patients with LQTS. Compound mutations are reported in different series as 4.5 and 7.9% and are associated with poor outcome. Beta blockers are the mainstay of therapy. The use of intracardiac defibrillators (ICD) is widely considered in patients at high risk for sudden death. Herein, we report a case of LQTS with compound mutations of KCNQ1 and SCN5a. Although ICD implantation was advised due to high cardiac event risk, the patient followed with beta blocker treatment for 15 years without any syncope or palpitations.

引用

页码：399 / 403

页数：5

共 50 条

[21] Ventricular dysfunction in a family with long QT syndrome type 3 [J].

Hummel, Yoran M. ;

Wilde, Arthur A. M. ;

Voors, Adriaan A. ;

Bugatti, Silvia ;

Hillege, Hans L. ;

van den Berg, Maarten P. .

EUROPACE, 2013, 15 (10) :1516-1521

[22] Disease-Causing Polymorphisms in the Spectrum of Long QT Syndrome Mutations [J].

Kaufman, Elizabeth S. .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2009, 54 (09) :820-821

[23] Clinical characteristics of patients with congenital long QT syndrome and bigenic mutations [J].

Juang Jyh-Ming Jimmy ;

Chen Ching-Yu ;

Yeh Huei-Ming ;

Chiu Wei-Yih ;

Yu Chih-Chieh ;

Liu Yen-Bin ;

Tsai Chia-Ti ;

Lo Li-Wei ;

Yeh Shih-Fan Sherri ;

Lai Ling-Ping .

CHINESE MEDICAL JOURNAL, 2014, 127 (08) :1482-1486

[24] Genetic Testing for Long-QT Syndrome Distinguishing Pathogenic Mutations From Benign Variants [J].

Kapa, Suraj ;

Tester, David J. ;

Salisbury, Benjamin A. ;

Harris-Kerr, Carole ;

Pungliya, Manish S. ;

Alders, Marielle ;

Wilde, Arthur A. M. ;

Ackerman, Michael J. .

CIRCULATION, 2009, 120 (18) :1752-U31

[25] "QT clock" to improve detection of QT prolongation in long QT syndrome patients [J].

Page, Alex ;

Aktas, Mehmet K. ;

Soyata, Tolga ;

Zareba, Wojciech ;

Couderc, Jean-Philippe .

HEART RHYTHM, 2016, 13 (01) :190-198

[26] Implantable cardioverter-defibrillator therapy in patients with congenital long-QT syndrome:: A long-term follow-up [J].

Mönnig, G ;

Köbe, J ;

Löher, A ;

Eckardt, L ;

Wedekind, H ;

Scheld, HH ;

Haverkamp, W ;

Milberg, P ;

Breithardt, G ;

Schulze-Bahr, E ;

Böcker, D .

HEART RHYTHM, 2005, 2 (05) :497-504

[27] Sports participation in long QT syndrome [J].

Aziz, Peter F. ;

Saarel, Elizabeth V. .

CARDIOLOGY IN THE YOUNG, 2017, 27 :S43-S48

[28] Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome) [J].

Ning, L ;

Moss, AJ ;

Zareba, W ;

Robinson, J ;

Rosero, S ;

Ryan, D ;

Qi, M .

ANNALS OF NONINVASIVE ELECTROCARDIOLOGY, 2003, 8 (03) :246-250

[29] Long QT syndrome [J].

Moss, AJ .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2003, 289 (16) :2041-2044

[30] A novel splice mutation of HERG in a Chinese family with long QT syndrome [J].

尚云鹏 ;

谢旭东 ;

王兴祥 ;

陈君柱 ;

朱建华 ;

陶谦民 ;

郑良荣 .

Journal of Zhejiang University Science, 2005, (07) :626-630

← 1 2 3 4 5 →