Format

Send to:

Choose Destination

Long QT syndrome 1(LQT1)

MedGen UID:
1641146
Concept ID:
C4551647
Disease or Syndrome
Synonym: LQT1
SNOMED CT: Romano-Ward syndrome (20852007)
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): KCNQ1 (11p15.5-15.4)
 
Monarch Initiative: MONDO:0100316
OMIM®: 192500

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 EKG that are associated with tachyarrhythmias, typically 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. Such cardiac events typically occur during exercise and emotional stress, less frequently 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 untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen 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  |  Hennie Bikker  |  Imke Christiaans   view full author information

Additional descriptions

From MedlinePlus Genetics
Fifteen types of long QT syndrome have been defined based on their genetic cause. Some types of long QT syndrome involve other cardiac abnormalities or problems with additional body systems. Romano-Ward syndrome encompasses those types that involve only a long QT interval without other abnormalities.\n\nThe arrhythmia associated with Romano-Ward syndrome can lead to fainting (syncope) or cardiac arrest and sudden death. However, some people with Romano-Ward syndrome never experience any health problems associated with the condition.\n\nRomano-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 term "long QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (ECG or EKG), which is a test used to measure the electrical activity of the heart. In people with long QT syndrome, the part of the heartbeat known as the QT interval is abnormally long. Abnormalities in the time it takes to recharge the heart lead to abnormal heart rhythms.  https://medlineplus.gov/genetics/condition/romano-ward-syndrome
From MedlinePlus Genetics
The arrhythmia associated with Romano-Ward syndrome can lead to fainting (syncope) or cardiac arrest and sudden death. However, some people with Romano-Ward syndrome never experience any health problems associated with the condition.\n\nFifteen types of long QT syndrome have been defined based on their genetic cause. Some types of long QT syndrome involve other cardiac abnormalities or problems with additional body systems. Romano-Ward syndrome encompasses those types that involve only a long QT interval without other abnormalities.\n\nRomano-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 term "long QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (ECG or EKG), which is a test used to measure the electrical activity of the heart. In people with long QT syndrome, the part of the heartbeat known as the QT interval is abnormally long. Abnormalities in the time it takes to recharge the heart lead to abnormal heart rhythms.  https://medlineplus.gov/genetics/condition/romano-ward-syndrome

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Torsades de pointes
MedGen UID:
21214
Concept ID:
C0040479
Disease or Syndrome
An electrocardiographic finding of an atypical rapid polymorphic ventricular tachycardia with a characteristic rotation of the QRS complex around the isoelectric baseline, occurring in the setting of a prolonged QT interval. In addition, the QRS complex displays a periodic waxing and waning of amplitude on the electrocardiogram.
Ventricular fibrillation
MedGen UID:
21844
Concept ID:
C0042510
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms.
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).
Ear malformation
MedGen UID:
75618
Concept ID:
C0266589
Congenital Abnormality
An abnormality of the ear.
Hearing abnormality
MedGen UID:
871365
Concept ID:
C4025860
Finding
An abnormality of the sensory perception of sound.

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.

ACMG SF v3.0, 2021

Recent clinical studies

Etiology

Rudic B, Tülümen E, Berlin V, Röger S, Stach K, Liebe V, El-Battrawy I, Dösch C, Papavassiliu T, Akin I, Borggrefe M, Kuschyk J
J Am Heart Assoc 2017 Oct 17;6(10) doi: 10.1161/JAHA.117.006265. PMID: 29042423Free PMC Article
McKinney J, Lithwick DJ, Morrison BN, Nazzari H, Luong M, Fordyce CB, Taunton J, Krahn AD, Heilbron B, Isserow S
Can J Cardiol 2017 Jan;33(1):155-161. Epub 2016 Jun 23 doi: 10.1016/j.cjca.2016.06.007. PMID: 27692657
Papadakis M, Raju H, Behr ER, De Noronha SV, Spath N, Kouloubinis A, Sheppard MN, Sharma S
Circ Arrhythm Electrophysiol 2013 Jun;6(3):588-96. Epub 2013 May 13 doi: 10.1161/CIRCEP.113.000111. PMID: 23671135
Aidery P, Kisselbach J, Schweizer PA, Becker R, Katus HA, Thomas D
Gene 2012 Dec 10;511(1):26-33. Epub 2012 Sep 19 doi: 10.1016/j.gene.2012.09.041. PMID: 23000022
Thomas D, Khalil M, Alter M, Schweizer PA, Karle CA, Wimmer AB, Licka M, Katus HA, Koenen M, Ulmer HE, Zehelein J
J Mol Cell Cardiol 2010 Jan;48(1):230-7. Epub 2009 Jun 21 doi: 10.1016/j.yjmcc.2009.06.009. PMID: 19540844

Diagnosis

Bollmann E, Schreiber JA, Ritter N, Peischard S, Ho HT, Wünsch B, Strünker T, Meuth S, Budde T, Strutz-Seebohm N, Seebohm G
Cell Physiol Biochem 2020 Apr 8;54(2):321-332. doi: 10.33594/000000222. PMID: 32259418
Mikuni I, Torres CG, Bakshi T, Tampo A, Carlson BE, Bienengraeber MW, Kwok WM
Anesthesiology 2015 Apr;122(4):806-20. doi: 10.1097/ALN.0000000000000583. PMID: 25585005Free PMC Article
Papadakis M, Raju H, Behr ER, De Noronha SV, Spath N, Kouloubinis A, Sheppard MN, Sharma S
Circ Arrhythm Electrophysiol 2013 Jun;6(3):588-96. Epub 2013 May 13 doi: 10.1161/CIRCEP.113.000111. PMID: 23671135
Biermann J, Wu K, Odening KE, Asbach S, Koren G, Peng X, Zehender M, Bode C, Brunner M
Eur J Pharmacol 2011 Jan 10;650(1):309-16. Epub 2010 Oct 17 doi: 10.1016/j.ejphar.2010.10.016. PMID: 20959120Free PMC Article
Thomas D, Khalil M, Alter M, Schweizer PA, Karle CA, Wimmer AB, Licka M, Katus HA, Koenen M, Ulmer HE, Zehelein J
J Mol Cell Cardiol 2010 Jan;48(1):230-7. Epub 2009 Jun 21 doi: 10.1016/j.yjmcc.2009.06.009. PMID: 19540844

Therapy

Rudic B, Tülümen E, Berlin V, Röger S, Stach K, Liebe V, El-Battrawy I, Dösch C, Papavassiliu T, Akin I, Borggrefe M, Kuschyk J
J Am Heart Assoc 2017 Oct 17;6(10) doi: 10.1161/JAHA.117.006265. PMID: 29042423Free PMC Article
Krahn AD, Yee R, Chauhan V, Skanes AC, Wang J, Hegele RA, Klein GJ
Am Heart J 2002 Mar;143(3):528-34. doi: 10.1067/mhj.2002.120408. PMID: 11868061

Prognosis

McKinney J, Lithwick DJ, Morrison BN, Nazzari H, Luong M, Fordyce CB, Taunton J, Krahn AD, Heilbron B, Isserow S
Can J Cardiol 2017 Jan;33(1):155-161. Epub 2016 Jun 23 doi: 10.1016/j.cjca.2016.06.007. PMID: 27692657
Zhang C, Kutyifa V, McNitt S, Zareba W, Goldenberg I, Moss AJ
J Cardiovasc Electrophysiol 2015 Aug;26(8):853-858. Epub 2015 May 28 doi: 10.1111/jce.12686. PMID: 25872798
Wong LC, Roses-Noguer F, Till JA, Behr ER
Circ Arrhythm Electrophysiol 2014 Oct;7(5):800-6. Epub 2014 Sep 6 doi: 10.1161/CIRCEP.114.001818. PMID: 25194972
Papadakis M, Raju H, Behr ER, De Noronha SV, Spath N, Kouloubinis A, Sheppard MN, Sharma S
Circ Arrhythm Electrophysiol 2013 Jun;6(3):588-96. Epub 2013 May 13 doi: 10.1161/CIRCEP.113.000111. PMID: 23671135
Chang CC, Wu MH, Lin JL, Chen YS, Wang JK, Lue HC
Acta Paediatr Taiwan 2001 Nov-Dec;42(6):350-4. PMID: 11811224

Clinical prediction guides

Oertli A, Rinné S, Moss R, Kääb S, Seemann G, Beckmann BM, Decher N
Int J Mol Sci 2021 Jan 23;22(3) doi: 10.3390/ijms22031112. PMID: 33498651Free PMC Article
Joutsijoki H, Penttinen K, Juhola M, Aalto-Setälä K
Methods Inf Med 2019 Nov;58(4-05):167-178. Epub 2020 Feb 20 doi: 10.1055/s-0040-1701484. PMID: 32079026
Mikuni I, Torres CG, Bakshi T, Tampo A, Carlson BE, Bienengraeber MW, Kwok WM
Anesthesiology 2015 Apr;122(4):806-20. doi: 10.1097/ALN.0000000000000583. PMID: 25585005Free PMC Article
Aromolaran AS, Subramanyam P, Chang DD, Kobertz WR, Colecraft HM
Cardiovasc Res 2014 Dec 1;104(3):501-11. Epub 2014 Oct 24 doi: 10.1093/cvr/cvu231. PMID: 25344363Free PMC Article
Thomas D, Khalil M, Alter M, Schweizer PA, Karle CA, Wimmer AB, Licka M, Katus HA, Koenen M, Ulmer HE, Zehelein J
J Mol Cell Cardiol 2010 Jan;48(1):230-7. Epub 2009 Jun 21 doi: 10.1016/j.yjmcc.2009.06.009. PMID: 19540844

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center