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Romano-Ward Syndrome.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2003 Feb 20 [updated 2012 May 31].

Excerpt

DISEASE CHARACTERISTICS:

Romano-Ward syndrome (RWS) is purely a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG and the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with RWS. Syncope typically occurs during exercise and high emotions, less frequently at rest or during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of individuals with a disease-causing mutation in one of the genes associated with RWS have symptoms, usually one to a few syncopal spells. While cardiac events may occur from infancy through middle age, they are most common from the pre-teen years through the 20s.

DIAGNOSIS/TESTING:

Diagnosis of RWS is established by prolongation of the QTc interval in the absence of specific conditions known to lengthen it (for example, QT-prolonging drugs) and/or molecular genetic testing of the genes known to be associated with RWS, of which KCNQ1 (locus name LQT1), KCNH2 (locus name LQT2) and SCN5A (locus name LQT3) are the most common. Other, less frequently involved genes are KCNE1 (locus name LQT5), KCNE2 (locus name LQT6), CAV3 (locus name LQT9), SCN4B (locus name LQT10), AKAP9 (locus name LQT11), SNTA1 (locus name LQT12) and KCNJ5 (locus name LQT13). Approximately 25% of families meeting clinical diagnostic criteria for RWS do not have detectable mutations in one of the above genes.

MANAGEMENT:

Treatment of manifestations: Beta-blocker medication is the primary treatment for RWS; possible use of a pacemaker in those individuals with LQT1 and LQT2 phenotypes with symptomatic bradycardia associated with beta-blocker therapy; possible implantable cardioverter-defibrillator (ICD) for symptomatic individuals with the LQT3 phenotype. Prevention of primary manifestations: Prophylactic use of beta blockers in asymptomatic children and adults dependent on genotype and age to prevent syncope, cardiac arrest, and sudden death; possible ICD for those with beta-blocker-resistant symptoms, inability to take beta blockers, and/or history of cardiac arrest. Surveillance: Regular assessment of beta-blocker dose for efficacy and adverse effects in all individuals and, in particular, every three to six months in children during rapid growth; regular periodic evaluations of ICDs for inappropriate shocks and pocket or lead complications. Agents/circumstances to avoid: Drugs that cause further prolongation of the QT interval or provoke torsade de pointes; competitive sports/activities associated with intense physical activity and/or emotional stress. Evaluation of relatives at risk: Presymptomatic diagnosis and treatment to prevent syncope and sudden death. Other: For some individuals, availability of automatic external defibrillators at home, at school, and in play areas.

GENETIC COUNSELING:

RWS is inherited in an autosomal dominant manner. Most individuals diagnosed with RWS have an affected parent. The proportion of cases caused by de novo mutation is small. Each child of an individual with RWS has a 50% risk of inheriting the disease-causing mutation. Penetrance of the disease may vary. Prenatal testing for pregnancies at increased risk is possible once the disease-causing mutation has been identified in the family.

Copyright © 1993-2014, University of Washington, Seattle. All rights reserved.

PMID:
20301308
[PubMed]
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