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Long QT syndrome 3(LQT3)

MedGen UID:
349087
Concept ID:
C1859062
Disease or Syndrome
Synonyms: LQT3; SCN5A-Related Romano Ward Syndrome
 
Gene (location): SCN5A (3p22.2)
 
Monarch Initiative: MONDO:0011377
OMIM®: 603830

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 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/603830
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.

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.

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 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
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
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
A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.
Ventricular fibrillation
MedGen UID:
21844
Concept ID:
C0042510
Disease or Syndrome
Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Ventricular flutter
MedGen UID:
56266
Concept ID:
C0152173
Finding
A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.
Prolonged QTc interval
MedGen UID:
294666
Concept ID:
C1560305
Pathologic Function
A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.
Hydrops fetalis
MedGen UID:
6947
Concept ID:
C0020305
Disease or Syndrome
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
Non-immune hydrops fetalis
MedGen UID:
105327
Concept ID:
C0455988
Disease or Syndrome
Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).

Professional guidelines

PubMed

Bains S, Lador A, Neves R, Bos JM, Giudicessi JR, Cannon BC, Ackerman MJ
Heart Rhythm 2022 Jan;19(1):81-87. Epub 2021 Sep 16 doi: 10.1016/j.hrthm.2021.09.016. PMID: 34537410
Turkowski KL, Dotzler SM, Tester DJ, Giudicessi JR, Bos JM, Speziale AD, Vollenweider JM, Ackerman MJ
Circ Genom Precis Med 2020 Aug;13(4):e002922. Epub 2020 May 29 doi: 10.1161/CIRCGEN.120.002922. PMID: 32469608
Perry JC, Garson A Jr
Adv Pediatr 1989;36:177-99. PMID: 2675568

Recent clinical studies

Etiology

Fukuyama M, Ohno S, Ozawa J, Kato K, Makiyama T, Nakagawa Y, Horie M
Circ J 2020 Mar 25;84(4):559-568. Epub 2020 Mar 12 doi: 10.1253/circj.CJ-19-1101. PMID: 32161207
Yu S, Li G, Huang CL, Lei M, Wu L
Pflugers Arch 2018 Mar;470(3):461-469. Epub 2017 Nov 10 doi: 10.1007/s00424-017-2079-7. PMID: 29127493
Jeevaratnam K, Chadda KR, Salvage SC, Valli H, Ahmad S, Grace AA, Huang CL
Clin Exp Pharmacol Physiol 2017 Dec;44 Suppl 1(Suppl Suppl 1):38-45. Epub 2017 Sep 20 doi: 10.1111/1440-1681.12721. PMID: 28024120Free PMC Article
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
Hummel YM, Wilde AA, Voors AA, Bugatti S, Hillege HL, van den Berg MP
Europace 2013 Oct;15(10):1516-21. Epub 2013 Apr 23 doi: 10.1093/europace/eut101. PMID: 23612729

Diagnosis

Taskin N, Ozdemir O
Int J Pediatr Otorhinolaryngol 2022 Nov;162:111297. Epub 2022 Sep 6 doi: 10.1016/j.ijporl.2022.111297. PMID: 36088733
Fukuyama M, Ohno S, Ozawa J, Kato K, Makiyama T, Nakagawa Y, Horie M
Circ J 2020 Mar 25;84(4):559-568. Epub 2020 Mar 12 doi: 10.1253/circj.CJ-19-1101. PMID: 32161207
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
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. PMID: 23998552
Hummel YM, Wilde AA, Voors AA, Bugatti S, Hillege HL, van den Berg MP
Europace 2013 Oct;15(10):1516-21. Epub 2013 Apr 23 doi: 10.1093/europace/eut101. PMID: 23612729

Therapy

Philippaert K, Kalyaanamoorthy S, Fatehi M, Long W, Soni S, Byrne NJ, Barr A, Singh J, Wong J, Palechuk T, Schneider C, Darwesh AM, Maayah ZH, Seubert JM, Barakat K, Dyck JRB, Light PE
Circulation 2021 Jun;143(22):2188-2204. Epub 2021 Apr 9 doi: 10.1161/CIRCULATIONAHA.121.053350. PMID: 33832341Free PMC Article
Yu S, Li G, Huang CL, Lei M, Wu L
Pflugers Arch 2018 Mar;470(3):461-469. Epub 2017 Nov 10 doi: 10.1007/s00424-017-2079-7. PMID: 29127493
Hohmann S, Rudic B, Konrad T, Duncker D, König T, Tülümen E, Rostock T, Borggrefe M, Veltmann C
Europace 2017 Oct 1;19(10):1723-1729. doi: 10.1093/europace/euw214. PMID: 27915266
Mazzanti A, Maragna R, Faragli A, Monteforte N, Bloise R, Memmi M, Novelli V, Baiardi P, Bagnardi V, Etheridge SP, Napolitano C, Priori SG
J Am Coll Cardiol 2016 Mar 8;67(9):1053-1058. doi: 10.1016/j.jacc.2015.12.033. PMID: 26940925Free PMC Article
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

Prognosis

Winbo A, Earle N, Marcondes L, Crawford J, Prosser DO, Love DR, Merriman TR, Cadzow M, Stiles R, Donoghue T, Stiles MK, Hayes I, Skinner JR
Heart Rhythm 2020 Aug;17(8):1304-1311. Epub 2020 Mar 27 doi: 10.1016/j.hrthm.2020.03.015. PMID: 32229296
Fukuyama M, Ohno S, Ozawa J, Kato K, Makiyama T, Nakagawa Y, Horie M
Circ J 2020 Mar 25;84(4):559-568. Epub 2020 Mar 12 doi: 10.1253/circj.CJ-19-1101. PMID: 32161207
Jeevaratnam K, Chadda KR, Salvage SC, Valli H, Ahmad S, Grace AA, Huang CL
Clin Exp Pharmacol Physiol 2017 Dec;44 Suppl 1(Suppl Suppl 1):38-45. Epub 2017 Sep 20 doi: 10.1111/1440-1681.12721. PMID: 28024120Free PMC Article
Hohmann S, Rudic B, Konrad T, Duncker D, König T, Tülümen E, Rostock T, Borggrefe M, Veltmann C
Europace 2017 Oct 1;19(10):1723-1729. doi: 10.1093/europace/euw214. PMID: 27915266
Mazzanti A, Maragna R, Faragli A, Monteforte N, Bloise R, Memmi M, Novelli V, Baiardi P, Bagnardi V, Etheridge SP, Napolitano C, Priori SG
J Am Coll Cardiol 2016 Mar 8;67(9):1053-1058. doi: 10.1016/j.jacc.2015.12.033. PMID: 26940925Free PMC Article

Clinical prediction guides

Winbo A, Earle N, Marcondes L, Crawford J, Prosser DO, Love DR, Merriman TR, Cadzow M, Stiles R, Donoghue T, Stiles MK, Hayes I, Skinner JR
Heart Rhythm 2020 Aug;17(8):1304-1311. Epub 2020 Mar 27 doi: 10.1016/j.hrthm.2020.03.015. PMID: 32229296
Fukuyama M, Ohno S, Ozawa J, Kato K, Makiyama T, Nakagawa Y, Horie M
Circ J 2020 Mar 25;84(4):559-568. Epub 2020 Mar 12 doi: 10.1253/circj.CJ-19-1101. PMID: 32161207
Yu S, Li G, Huang CL, Lei M, Wu L
Pflugers Arch 2018 Mar;470(3):461-469. Epub 2017 Nov 10 doi: 10.1007/s00424-017-2079-7. PMID: 29127493
Hohmann S, Rudic B, Konrad T, Duncker D, König T, Tülümen E, Rostock T, Borggrefe M, Veltmann C
Europace 2017 Oct 1;19(10):1723-1729. doi: 10.1093/europace/euw214. PMID: 27915266
Mazzanti A, Maragna R, Faragli A, Monteforte N, Bloise R, Memmi M, Novelli V, Baiardi P, Bagnardi V, Etheridge SP, Napolitano C, Priori SG
J Am Coll Cardiol 2016 Mar 8;67(9):1053-1058. doi: 10.1016/j.jacc.2015.12.033. PMID: 26940925Free PMC Article

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