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Romano-Ward syndrome(RWS)

MedGen UID:
468493
Concept ID:
CN119492
Disease or Syndrome
Synonyms: RWS; Ventricular fibrillation with prolonged QT interval
 

Disease characteristics

Excerpted from the GeneReview: Long QT Syndrome
Long QT syndrome (LQTS) is 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 LQTS. 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 pathogenic variant in one of the genes associated with LQTS 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. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7), hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8) and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome. [from GeneReviews]
Authors:
Mariëlle Alders  |  Imke Christiaans   view full author information

Additional descriptions

From OMIM
Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). A form of torsade de pointes in which the first beat has a short coupling interval has been described (613600). Genetic Heterogeneity of Long QT Syndrome There are other forms of LQT syndrome (LQTS) associated with mutations in various genes encoding ion channel subunits: LQT2 (613688) is caused by mutation in the KCNH2 gene (152427), LQT3 (603830) is caused by mutation in the SCN5A gene (600163), LQT4 (see 600919) is caused by mutation in the ANK2 gene (106410), LQT5 is caused by mutation in the KCNE1 gene (176261), LQT6 (613693) is caused by mutation in the KCNE2 gene (603796), LQT7 (Andersen cardiodysrhythmic periodic paralysis, 170390) is caused by mutation in the KCNJ2 gene (600681), LQT8 (Timothy syndrome; 601005) is caused by mutation in the CACNA1C gene (114205), LQT9 (611818) is caused by mutation in the CAV3 gene (601253), LQT10 (611819) is caused by mutation in the SCN4B gene (608256), LQT11 (611820) is caused by mutation in the AKAP9 gene (604001), LQT12 (612955) is caused by mutation in the SNTA1 gene (601017), LQT13 (613485) is caused by mutation in the KCNJ5 gene (600734), LQT14 (616247) is caused by mutation in the CALM1 gene (114180), and LQT15 (616249) is caused by mutation in the CALM2 gene (114182). Approximately 10% of LQTS patients in whom a mutation is identified in one ion channel gene carry a second mutation in the same gene or in another ion channel gene (Tester et al., 2005).  http://www.omim.org/entry/192500
From GHR
Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The irregular heartbeats can lead to fainting (syncope) or cardiac arrest and sudden death.  http://ghr.nlm.nih.gov/condition/romano-ward-syndrome

Recent clinical studies

Etiology

Koponen M, Marjamaa A, Hiippala A, Happonen JM, Havulinna AS, Salomaa V, Lahtinen AM, Hintsa T, Viitasalo M, Toivonen L, Kontula K, Swan H
Circ Arrhythm Electrophysiol 2015 Aug;8(4):815-23. Epub 2015 Jun 10 doi: 10.1161/CIRCEP.114.002654. [Epub ahead of print] PMID: 26063740
Winbo A, Fosdal I, Lindh M, Diamant UB, Persson J, Wettrell G, Rydberg A
Circ Arrhythm Electrophysiol 2015 Aug;8(4):806-14. Epub 2015 May 27 doi: 10.1161/CIRCEP.114.002552. [Epub ahead of print] PMID: 26019114
Zhang C, Kutyifa V, McNitt S, Zareba W, Goldenberg I, Moss AJ
J Cardiovasc Electrophysiol 2015 Aug;26(8):853-8. Epub 2015 May 28 doi: 10.1111/jce.12686. [Epub ahead of print] PMID: 25872798
Kapplinger JD, Tseng AS, Salisbury BA, Tester DJ, Callis TE, Alders M, Wilde AA, Ackerman MJ
J Cardiovasc Transl Res 2015 Apr;8(3):187-97. Epub 2015 Apr 9 doi: 10.1007/s12265-015-9622-8. [Epub ahead of print] PMID: 25854863
Porta A, Girardengo G, Bari V, George AL Jr, Brink PA, Goosen A, Crotti L, Schwartz PJ
J Am Coll Cardiol 2015 Feb 3;65(4):367-74. doi: 10.1016/j.jacc.2014.11.015. PMID: 25634836Free PMC Article

Diagnosis

Winbo A, Fosdal I, Lindh M, Diamant UB, Persson J, Wettrell G, Rydberg A
Circ Arrhythm Electrophysiol 2015 Aug;8(4):806-14. Epub 2015 May 27 doi: 10.1161/CIRCEP.114.002552. [Epub ahead of print] PMID: 26019114
Zhang C, Kutyifa V, McNitt S, Zareba W, Goldenberg I, Moss AJ
J Cardiovasc Electrophysiol 2015 Aug;26(8):853-8. Epub 2015 May 28 doi: 10.1111/jce.12686. [Epub ahead of print] PMID: 25872798
Kapplinger JD, Tseng AS, Salisbury BA, Tester DJ, Callis TE, Alders M, Wilde AA, Ackerman MJ
J Cardiovasc Transl Res 2015 Apr;8(3):187-97. Epub 2015 Apr 9 doi: 10.1007/s12265-015-9622-8. [Epub ahead of print] PMID: 25854863
Spätjens RL, Bébarová M, Seyen SR, Lentink V, Jongbloed RJ, Arens YH, Heijman J, Volders PG
Cardiovasc Res 2014 Oct 1;104(1):216-25. Epub 2014 Aug 18 doi: 10.1093/cvr/cvu191. [Epub ahead of print] PMID: 25139741
Hodkinson EC, Hill AP, Vandenberg JI
Ir Med J 2014 Apr;107(4):122-4. PMID: 24834591

Therapy

Koponen M, Marjamaa A, Hiippala A, Happonen JM, Havulinna AS, Salomaa V, Lahtinen AM, Hintsa T, Viitasalo M, Toivonen L, Kontula K, Swan H
Circ Arrhythm Electrophysiol 2015 Aug;8(4):815-23. Epub 2015 Jun 10 doi: 10.1161/CIRCEP.114.002654. [Epub ahead of print] PMID: 26063740
Porta A, Girardengo G, Bari V, George AL Jr, Brink PA, Goosen A, Crotti L, Schwartz PJ
J Am Coll Cardiol 2015 Feb 3;65(4):367-74. doi: 10.1016/j.jacc.2014.11.015. PMID: 25634836Free PMC Article
Bennett MT, Gula LJ, Klein GJ, Skanes AC, Yee R, Leong-Sit P, Chattha I, Sy R, Jones DL, Krahn AD
Europace 2014 Dec;16(12):1847-51. Epub 2014 May 15 doi: 10.1093/europace/euu086. [Epub ahead of print] PMID: 24833771
Diamant UB, Vahedi F, Winbo A, Rydberg A, Stattin EL, Jensen SM, Bergfeldt L
J Appl Physiol (1985) 2013 Nov;115(10):1423-32. Epub 2013 Sep 19 doi: 10.1152/japplphysiol.00665.2013. [Epub ahead of print] PMID: 24052033
Extramiana F, Maison-Blanche P, Denjoy I, De Jode P, Messali A, Labbé JP, Leenhardt A
Ann Noninvasive Electrocardiol 2013 Jul;18(4):399-408. Epub 2013 May 3 doi: 10.1111/anec.12048. [Epub ahead of print] PMID: 23879280

Prognosis

Koponen M, Marjamaa A, Hiippala A, Happonen JM, Havulinna AS, Salomaa V, Lahtinen AM, Hintsa T, Viitasalo M, Toivonen L, Kontula K, Swan H
Circ Arrhythm Electrophysiol 2015 Aug;8(4):815-23. Epub 2015 Jun 10 doi: 10.1161/CIRCEP.114.002654. [Epub ahead of print] PMID: 26063740
Winbo A, Fosdal I, Lindh M, Diamant UB, Persson J, Wettrell G, Rydberg A
Circ Arrhythm Electrophysiol 2015 Aug;8(4):806-14. Epub 2015 May 27 doi: 10.1161/CIRCEP.114.002552. [Epub ahead of print] PMID: 26019114
Zhang C, Kutyifa V, McNitt S, Zareba W, Goldenberg I, Moss AJ
J Cardiovasc Electrophysiol 2015 Aug;26(8):853-8. Epub 2015 May 28 doi: 10.1111/jce.12686. [Epub ahead of print] PMID: 25872798
Kapplinger JD, Tseng AS, Salisbury BA, Tester DJ, Callis TE, Alders M, Wilde AA, Ackerman MJ
J Cardiovasc Transl Res 2015 Apr;8(3):187-97. Epub 2015 Apr 9 doi: 10.1007/s12265-015-9622-8. [Epub ahead of print] PMID: 25854863
Jiménez-Jáimez J, Álvarez López M, Tercedor Sánchez L
Heart 2015 Aug;101(15):1232, 1239. Epub 2015 Apr 1 doi: 10.1136/heartjnl-2014-307362. [Epub ahead of print] PMID: 25832545

Clinical prediction guides

Winbo A, Fosdal I, Lindh M, Diamant UB, Persson J, Wettrell G, Rydberg A
Circ Arrhythm Electrophysiol 2015 Aug;8(4):806-14. Epub 2015 May 27 doi: 10.1161/CIRCEP.114.002552. [Epub ahead of print] PMID: 26019114
Zhang C, Kutyifa V, McNitt S, Zareba W, Goldenberg I, Moss AJ
J Cardiovasc Electrophysiol 2015 Aug;26(8):853-8. Epub 2015 May 28 doi: 10.1111/jce.12686. [Epub ahead of print] PMID: 25872798
Kapplinger JD, Tseng AS, Salisbury BA, Tester DJ, Callis TE, Alders M, Wilde AA, Ackerman MJ
J Cardiovasc Transl Res 2015 Apr;8(3):187-97. Epub 2015 Apr 9 doi: 10.1007/s12265-015-9622-8. [Epub ahead of print] PMID: 25854863
Jiménez-Jáimez J, Álvarez López M, Tercedor Sánchez L
Heart 2015 Aug;101(15):1232, 1239. Epub 2015 Apr 1 doi: 10.1136/heartjnl-2014-307362. [Epub ahead of print] PMID: 25832545
Diamant UB, Vahedi F, Winbo A, Rydberg A, Stattin EL, Jensen SM, Bergfeldt L
J Appl Physiol (1985) 2013 Nov;115(10):1423-32. Epub 2013 Sep 19 doi: 10.1152/japplphysiol.00665.2013. [Epub ahead of print] PMID: 24052033

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