Format

Send to:

Choose Destination

Long QT syndrome 2(LQT2)

MedGen UID:
462293
Concept ID:
C3150943
Disease or Syndrome
Synonyms: LONG QT SYNDROME 2, ACQUIRED, REDUCED SUSCEPTIBILITY TO; LQT2
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The production of the same or similar phenotypes (observed biochemical, physiological, and morphological characteristics of a person determined by his/her genotype) by different genetic mechanisms. There are two types: (1) allelic heterogeneity - when different alleles at a locus can produce variable expression of a condition; and (2) locus heterogeneity - the term used to describe disease in which mutations at different loci can produce the same disease phenotype.
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Genes (locations): ALG10 (12p11.1); KCNH2 (7q36.1)
OMIM®: 613688

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 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). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500).  http://www.omim.org/entry/613688

Clinical features

Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Fainting is a temporary loss of consciousness. If you're about to faint, you'll feel dizzy, lightheaded, or nauseous. Your field of vision may white out or black out. Your skin may be cold and clammy. You lose muscle control at the same time, and may fall down. Fainting usually happens when your blood pressure drops suddenly, causing a decrease in blood flow to your brain. It is more common in older people. Some causes of fainting include. -Heat or dehydration . -Emotional distress . -Standing up too quickly . -Certain medicines . -Drop in blood sugar . -Heart problems . When someone faints, make sure that the airway is clear and check for breathing. The person should stay lying down for 10-15 minutes. Most people recover completely. Fainting is usually nothing to worry about, but it can sometimes be a sign of a serious problem. If you faint, it's important to see your health care provider and find out why it happened. .
Prolonged QT interval
MedGen UID:
57494
Concept ID:
C0151878
Finding
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).

Professional guidelines

PubMed

ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. PMID: 23788249Free PMC Article
Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP; Heart Rhythm Society (HRS).; European Heart Rhythm Association (EHRA).
Europace 2011 Aug;13(8):1077-109. doi: 10.1093/europace/eur245. PMID: 21810866

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Recent clinical studies

Etiology

Kumakura M, Hara K, Sata T
J Clin Anesth 2016 Sep;33:81-5. Epub 2016 Apr 29 doi: 10.1016/j.jclinane.2016.03.011. PMID: 27555138
Ichikawa M, Ohno S, Fujii Y, Ozawa J, Sonoda K, Fukuyama M, Kato K, Kimura H, Itoh H, Hayashi H, Horie M
Intern Med 2016;55(3):259-62. Epub 2016 Feb 1 doi: 10.2169/internalmedicine.55.6014. PMID: 26831020
Tagawa M, Ochiai S, Nakamura Y, Sato A, Chinushi M
Heart Vessels 2016 Jul;31(7):1200-5. Epub 2015 May 29 doi: 10.1007/s00380-015-0693-x. PMID: 26022375
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. PMID: 26063740
Bellocq C, Wilders R, Schott JJ, Louérat-Oriou B, Boisseau P, Le Marec H, Escande D, Baró I
Mol Pharmacol 2004 Nov;66(5):1093-102. Epub 2004 Jul 27 doi: 10.1124/mol.104.001065. PMID: 15280442

Diagnosis

Kumakura M, Hara K, Sata T
J Clin Anesth 2016 Sep;33:81-5. Epub 2016 Apr 29 doi: 10.1016/j.jclinane.2016.03.011. PMID: 27555138
Ichikawa M, Ohno S, Fujii Y, Ozawa J, Sonoda K, Fukuyama M, Kato K, Kimura H, Itoh H, Hayashi H, Horie M
Intern Med 2016;55(3):259-62. Epub 2016 Feb 1 doi: 10.2169/internalmedicine.55.6014. PMID: 26831020
Page A, Aktas MK, Soyata T, Zareba W, Couderc JP
Heart Rhythm 2016 Jan;13(1):190-8. Epub 2015 Aug 31 doi: 10.1016/j.hrthm.2015.08.037. PMID: 26334569Free PMC Article
Tagawa M, Ochiai S, Nakamura Y, Sato A, Chinushi M
Heart Vessels 2016 Jul;31(7):1200-5. Epub 2015 May 29 doi: 10.1007/s00380-015-0693-x. PMID: 26022375
Bellocq C, Wilders R, Schott JJ, Louérat-Oriou B, Boisseau P, Le Marec H, Escande D, Baró I
Mol Pharmacol 2004 Nov;66(5):1093-102. Epub 2004 Jul 27 doi: 10.1124/mol.104.001065. PMID: 15280442

Therapy

Kumakura M, Hara K, Sata T
J Clin Anesth 2016 Sep;33:81-5. Epub 2016 Apr 29 doi: 10.1016/j.jclinane.2016.03.011. PMID: 27555138
Tagawa M, Ochiai S, Nakamura Y, Sato A, Chinushi M
Heart Vessels 2016 Jul;31(7):1200-5. Epub 2015 May 29 doi: 10.1007/s00380-015-0693-x. PMID: 26022375
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. PMID: 26063740
Mehta A, Sequiera GL, Ramachandra CJ, Sudibyo Y, Chung Y, Sheng J, Wong KY, Tan TH, Wong P, Liew R, Shim W
Cardiovasc Res 2014 Jun 1;102(3):497-506. Epub 2014 Mar 12 doi: 10.1093/cvr/cvu060. PMID: 24623279
Bellocq C, Wilders R, Schott JJ, Louérat-Oriou B, Boisseau P, Le Marec H, Escande D, Baró I
Mol Pharmacol 2004 Nov;66(5):1093-102. Epub 2004 Jul 27 doi: 10.1124/mol.104.001065. PMID: 15280442

Prognosis

Tagawa M, Ochiai S, Nakamura Y, Sato A, Chinushi M
Heart Vessels 2016 Jul;31(7):1200-5. Epub 2015 May 29 doi: 10.1007/s00380-015-0693-x. PMID: 26022375
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. PMID: 26063740
Kumar S, Sharma R, Kalman JM
Heart Rhythm 2014 Oct;11(10):1836-8. Epub 2014 Jun 2 doi: 10.1016/j.hrthm.2014.05.034. PMID: 24882508
Laksman ZW, Gula LJ, Saklani P, Cassagneau R, Steinberg C, Conacher S, Yee R, Skanes A, Leong-Sit P, Manlucu J, Klein GJ, Krahn AD
Heart Rhythm 2014 Sep;11(9):1632-8. Epub 2014 May 24 doi: 10.1016/j.hrthm.2014.05.027. PMID: 24861447
Kane DA, Triedman J
Cardiovasc Pathol 2014 Mar-Apr;23(2):107-9. Epub 2013 Nov 15 doi: 10.1016/j.carpath.2013.11.003. PMID: 24322056

Clinical prediction guides

Tagawa M, Ochiai S, Nakamura Y, Sato A, Chinushi M
Heart Vessels 2016 Jul;31(7):1200-5. Epub 2015 May 29 doi: 10.1007/s00380-015-0693-x. PMID: 26022375
Jiménez-Jáimez J, Peinado R, Grima EZ, Segura F, Moriña P, Sánchez Muñoz JJ, Mazuelos F, Cózar R, Gimeno JR, Heras RP, Monserrat L, Domingo D, Ortiz-Genga M, Fernández Pastor J, Álvarez M, Tercedor L
Am J Cardiol 2015 Sep 15;116(6):894-9. Epub 2015 Jun 27 doi: 10.1016/j.amjcard.2015.06.030. PMID: 26189708
Kolder IC, Tanck MW, Postema PG, Barc J, Sinner MF, Zumhagen S, Husemann A, Stallmeyer B, Koopmann TT, Hofman N, Pfeufer A, Lichtner P, Meitinger T, Beckmann BM, Myerburg RJ, Bishopric NH, Roden DM, Kääb S, Wilde AA, Schott JJ, Schulze-Bahr E, Bezzina CR
Circ Cardiovasc Genet 2015 Jun;8(3):447-56. Epub 2015 Mar 3 doi: 10.1161/CIRCGENETICS.114.000785. PMID: 25737393Free PMC Article
Sadrieh A, Domanski L, Pitt-Francis J, Mann SA, Hodkinson EC, Ng CA, Perry MD, Taylor JA, Gavaghan D, Subbiah RN, Vandenberg JI, Hill AP
Nat Commun 2014 Sep 25;5:5069. doi: 10.1038/ncomms6069. PMID: 25254353
Laksman ZW, Gula LJ, Saklani P, Cassagneau R, Steinberg C, Conacher S, Yee R, Skanes A, Leong-Sit P, Manlucu J, Klein GJ, Krahn AD
Heart Rhythm 2014 Sep;11(9):1632-8. Epub 2014 May 24 doi: 10.1016/j.hrthm.2014.05.027. PMID: 24861447

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center