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Long QT syndrome 11(LQT11)

MedGen UID:
437218
Concept ID:
C2678483
Disease or Syndrome
Synonyms: LQT11
 
Gene: AKAP9
Cytogenetic location: 7q21.2
OMIM®: 611820

Disease characteristics

Excerpted from the GeneReview: Romano-Ward Syndrome
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. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Marielle Alders  |  Marcel MAM Mannens   view full author information

Additional description

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).  http://www.omim.org/entry/611820

Clinical features

Prolonged QT interval
MedGen UID:
500908
Concept ID:
CN001508
Finding
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).

Recent clinical studies

Etiology

Olde Nordkamp LR, Ruwald MH, Goldenberg I, Wieling W, McNitt S, Polonsky B, Wilde AA, van Dijk N, Moss AJ
Am J Cardiol 2014 Oct 15;114(8):1223-8. Epub 2014 Jul 30 doi: 10.1016/j.amjcard.2014.07.044. [Epub ahead of print] PMID: 25173441
Haugaa KH, Vestervik TT, Andersson S, Amlie JP, Jørum E, Gjerstad L, Taubøll E
Heart Rhythm 2013 Dec;10(12):1877-83. Epub 2013 Sep 27 doi: 10.1016/j.hrthm.2013.09.070. [Epub ahead of print] PMID: 24080067
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
Johnson JN, Ackerman MJ
Br J Sports Med 2013 Jan;47(1):28-33. Epub 2012 Nov 28 doi: 10.1136/bjsports-2012-091751. [Epub ahead of print] PMID: 23193325
Shinwari ZM, Al-Hazzani A, Dzimiri N, Tulbah S, Mallawi Y, Al-Fayyadh M, Al-Hassnan ZN
Clin Genet 2013 Apr;83(4):370-4. Epub 2012 Jul 10 doi: 10.1111/j.1399-0004.2012.01914.x. [Epub ahead of print] PMID: 22708720

Diagnosis

Wu J, Naiki N, Ding WG, Ohno S, Kato K, Zang WJ, Delisle BP, Matsuura H, Horie M
J Am Coll Cardiol 2014 Mar 4;63(8):819-27. Epub 2013 Oct 30 doi: 10.1016/j.jacc.2013.08.1648. [Epub ahead of print] PMID: 24184248
Ma D, Wei H, Zhao Y, Lu J, Li G, Sahib NB, Tan TH, Wong KY, Shim W, Wong P, Cook SA, Liew R
Int J Cardiol 2013 Oct 15;168(6):5277-86. Epub 2013 Aug 15 doi: 10.1016/j.ijcard.2013.08.015. [Epub ahead of print] PMID: 23998552
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
Di Cori A, Zucchelli G, Romano S, Bongiorni MG
J Cardiovasc Electrophysiol 2013 Nov;24(11):1304-5. Epub 2013 Jun 11 doi: 10.1111/jce.12179. [Epub ahead of print] PMID: 23758507
Kaltenbach S, Capri Y, Rossignol S, Denjoy I, Soudée S, Aboura A, Baumann C, Verloes A
Clin Genet 2013 Jul;84(1):78-81. Epub 2012 Nov 14 doi: 10.1111/cge.12038. [Epub ahead of print] PMID: 23061425

Therapy

Theilade J, Kanters J, Henriksen FL, Gilså-Hansen M, Svendsen JH, Eschen O, Toft E, Reimers JI, Tybjærg-Hansen A, Christiansen M, Jensen HK, Bundgaard H
Cardiology 2013;126(2):131-7. Epub 2013 Aug 21 doi: 10.1159/000350825. [Epub ahead of print] PMID: 23969902
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
Di Cori A, Zucchelli G, Romano S, Bongiorni MG
J Cardiovasc Electrophysiol 2013 Nov;24(11):1304-5. Epub 2013 Jun 11 doi: 10.1111/jce.12179. [Epub ahead of print] PMID: 23758507
Mullally J, Goldenberg I, Moss AJ, Lopes CM, Ackerman MJ, Zareba W, McNitt S, Robinson JL, Benhorin J, Kaufman ES, Towbin JA, Barsheshet A
Heart Rhythm 2013 Mar;10(3):378-82. Epub 2012 Nov 19 doi: 10.1016/j.hrthm.2012.11.006. [Epub ahead of print] PMID: 23174487Free PMC Article
Ildarova R, Shkolnikova MA, Kharlap M, Bereznitskaya V, Kalinin L
J Electrocardiol 2012 May-Jun;45(3):237-43. Epub 2012 Mar 7 doi: 10.1016/j.jelectrocard.2012.01.008. [Epub ahead of print] PMID: 22402334

Prognosis

Olde Nordkamp LR, Ruwald MH, Goldenberg I, Wieling W, McNitt S, Polonsky B, Wilde AA, van Dijk N, Moss AJ
Am J Cardiol 2014 Oct 15;114(8):1223-8. Epub 2014 Jul 30 doi: 10.1016/j.amjcard.2014.07.044. [Epub ahead of print] PMID: 25173441
Haugaa KH, Vestervik TT, Andersson S, Amlie JP, Jørum E, Gjerstad L, Taubøll E
Heart Rhythm 2013 Dec;10(12):1877-83. Epub 2013 Sep 27 doi: 10.1016/j.hrthm.2013.09.070. [Epub ahead of print] PMID: 24080067
Theilade J, Kanters J, Henriksen FL, Gilså-Hansen M, Svendsen JH, Eschen O, Toft E, Reimers JI, Tybjærg-Hansen A, Christiansen M, Jensen HK, Bundgaard H
Cardiology 2013;126(2):131-7. Epub 2013 Aug 21 doi: 10.1159/000350825. [Epub ahead of print] PMID: 23969902
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
Johnson JN, Ackerman MJ
Br J Sports Med 2013 Jan;47(1):28-33. Epub 2012 Nov 28 doi: 10.1136/bjsports-2012-091751. [Epub ahead of print] PMID: 23193325

Clinical prediction guides

Gurrieri F, Zollino M, Oliva A, Pascali V, Orteschi D, Pietrobono R, Camporeale A, Coll Vidal M, Partemi S, Brugada R, Bellocci F, Neri G
Eur J Hum Genet 2013 Sep;21(9):965-9. Epub 2013 Mar 20 doi: 10.1038/ejhg.2012.280. [Epub ahead of print] PMID: 23511928Free PMC Article
Johnson JN, Ackerman MJ
Br J Sports Med 2013 Jan;47(1):28-33. Epub 2012 Nov 28 doi: 10.1136/bjsports-2012-091751. [Epub ahead of print] PMID: 23193325
Olesen MS, Yuan L, Liang B, Holst AG, Nielsen N, Nielsen JB, Hedley PL, Christiansen M, Olesen SP, Haunsø S, Schmitt N, Jespersen T, Svendsen JH
Circ Cardiovasc Genet 2012 Aug 1;5(4):450-9. Epub 2012 Jun 8 doi: 10.1161/CIRCGENETICS.111.962597. [Epub ahead of print] PMID: 22685113
Chiladakis J, Kalogeropoulos A, Zagkli F, Koutsogiannis N, Chouchoulis K, Alexopoulos D
Cardiology 2012;122(1):3-11. Epub 2012 May 23 doi: 10.1159/000338345. [Epub ahead of print] PMID: 22626988
Mönnig G, Köbe J, Löher A, Wasmer K, Milberg P, Zellerhoff S, Pott C, Zumhagen S, Radu R, Scheld HH, Haverkamp W, Schulze-Bahr E, Eckardt L
Europace 2012 Mar;14(3):396-401. Epub 2011 Oct 6 doi: 10.1093/europace/eur316. [Epub ahead of print] PMID: 21979994

Recent systematic reviews

Howard PA
Ann Pharmacother 2013 Nov;47(11):1547-51. doi: 10.1177/1060028013504905. PMID: 24285766
Webster G, Berul CI
Trends Cardiovasc Med 2008 Aug;18(6):216-24. doi: 10.1016/j.tcm.2008.11.002. PMID: 19185812Free PMC Article
Arbel Y, Swartzon M, Justo D
Anticancer Drugs 2007 Apr;18(4):493-8. doi: 10.1097/CAD.0b013e328012d023. PMID: 17351403
Milic M, Bao X, Rizos D, Liu F, Ziegler MG
Clin Ther 2006 Apr;28(4):582-90. doi: 10.1016/j.clinthera.2006.04.010. PMID: 16750469
Reinoehl J, Frankovich D, Machado C, Kawasaki R, Baga JJ, Pires LA, Steinman RT, Fromm BS, Lehmann MH
Am Heart J 1996 Jun;131(6):1184-91. PMID: 8644599

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