Long QT syndrome and dilated cardiomyopathy with SCN5A p.R1193Q polymorphism: Cardioverter-defibrillator implantation at 27 months

PACE - Pacing and Clinical Electrophysiology

Volumn 35, Issue 8, 2012, Pages

  Kwon, Hye Won ^a   Lee, Sang Yoon ^a   Kwon, Bo Sang ^a   Kim, Gi Beom ^a   Bae, Eun Jung ^a   Kim, Woong Han ^b   Noh, Chung Il ^a   Cho, Sung Im ^b   Park, Sung Sup ^b  

^a Seoul National University Hospital   (South Korea)

^b Seoul National University Children's Hospital   (South Korea)

Author keywords

cardiomyopathy; implantable cardioverter defibrillator; long QT syndrome; ventricular fibrillation

Indexed keywords

BRAIN NATRIURETIC PEPTIDE; CARVEDILOL; DIGOXIN; FUROSEMIDE; PROPRANOLOL; SODIUM CHANNEL NAV1.5; SPIRONOLACTONE;

ARTICLE; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; CYANOSIS; DEATH; DEFIBRILLATOR; DISEASE COURSE; DRUG TREATMENT FAILURE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; GENETIC POLYMORPHISM; HEART ARREST; HEART FAILURE; HEART LEFT VENTRICLE EJECTION FRACTION; HEART LEFT VENTRICLE FAILURE; HEART PACING; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE FIBRILLATION; HEART VENTRICLE FUNCTION; HUMAN; HYPOTENSION; LETHARGY; LONG QT SYNDROME; MALE; NEWBORN; POLYMORPHIC VENTRICULAR TACHYCARDIA; QT INTERVAL; RESPIRATORY FAILURE; RESUSCITATION; SINUS BRADYCARDIA; STERNOTOMY; SUDDEN DEATH; SYNCOPE; TORSADE DES POINTES;

CARDIOMYOPATHY, DILATED; CHANNELOPATHIES; CHILD, PRESCHOOL; DEFIBRILLATORS, IMPLANTABLE; DISEASE PROGRESSION; FATAL OUTCOME; HUMANS; LONG QT SYNDROME; MALE; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; POLYMORPHISM, GENETIC; VENTRICULAR FIBRILLATION;

EID: 84864677880     PISSN: 01478389     EISSN: 15408159     Source Type: Journal    
DOI: 10.1111/j.1540-8159.2012.03409.x     Document Type: Article

References (10)

1. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson J, Moss AJ, et al,. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995; 80: 805-811.
2. Grant AO, Carboni MP, Neplioueva V, Starmer CF, Memmi M, Napolitano C, Priori S,. Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J Clin Invest 2002; 110: 1201-1209.
3. McNair WP, Ku L, Taylor MR, Fain PR, Dao D, Wolfel E, Mestroni L,. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation 2004; 110: 2163-2167.
4. Priori SG, Schwartz PJ, Napolitano C, Bloise R, Ronchetti E, Grillo M, Vicentini A, et al,. Risk stratification in the long-QT syndrome. N Engl J Med 2003; 348: 1866-1874.
5. Etheridge SP, Sanatani S, Cohen MI, Albaro CA, Saarel EV, Bradley DJ,. Long QT syndrome in children in the era of implantable defibrillators. J Am Coll Cardiol 2007; 50: 1335-1340.
6. Remme CA, Wilde AA, Bezzina CR,. Cardiac sodium channel overlap syndromes: Different faces of SCN5A mutations. Trends Cardiovasc Med 2008; 18: 78-87.
7. Wang Q, Chen S, Chen Q, Wan X, Shen J, Hoeltge GA, Timur AA, et al,. The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. J Med Genet 2004; 41: e66.
8. v1.5/R1193Q polymorphism is associated with both long QT and Brugada syndromes. Can J Cardiol 2006; 22: 309-313.
9. Sun A, Xu L, Wang S, Wang K, Huang W, Wang Y, Zou Y, et al,. SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family. J Med Genet 2008; 45: 127-128.
10. Hsia TY, Bradley SM, LaPage MJ, Whelan S, Saul JP, Ringewald JM, Reed JH,. Novel minimally invasive, intrapericardial implantable cardioverter defibrillator coil system: A useful approach to arrhythmia therapy in children. Ann Thorac Surg 2009; 87: 1234-1238; discussion 1238-1239.