Romano-Ward Syndrome

A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.

Also Known As:

Long QT Syndrome Type 1; Ventricular Fibrillation with Prolonged QT Interval; Romano Ward Syndrome; Syndrome, Romano-Ward; Syndrome, Ward-Romano; Ward Romano Syndrome; Long QT Syndrome 1; Ward-Romano Syndrome

Networked: 60 relevant articles (2 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Long QT Syndrome
2.	Ventricular Tachycardia
3.	Long Qt Syndrome 2
4.	Atrioventricular Block
5.	Arrhythmogenic Right Ventricular Dysplasia (Arrhythmogenic Right Ventricular Cardiomyopathy)

Experts

1.	Denjoy, Isabelle: 3 articles (12/2021 - 01/2009)
2.	Schwartz, Peter J: 3 articles (12/2021 - 01/2009)
3.	Volders, Paul G A: 3 articles (12/2021 - 01/2013)
4.	Koren, Gideon: 3 articles (01/2015 - 01/2011)
5.	Crotti, Lia: 2 articles (12/2021 - 01/2009)
6.	Spazzolini, Carla: 2 articles (12/2021 - 01/2009)
7.	Horie, Minoru: 2 articles (09/2020 - 10/2018)
8.	Kamakura, Tsukasa: 2 articles (09/2020 - 10/2018)
9.	Makiyama, Takeru: 2 articles (09/2020 - 10/2018)
10.	Ohno, Seiko: 2 articles (09/2020 - 10/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Romano-Ward Syndrome:

1.	Propranolol (Inderal)FDA LinkGeneric 04/01/1991 - "A case of Romano-Ward syndrome effectively treated by both propranolol and atrial pacing is reported. " 04/01/1991 - "[A case of Romano-Ward syndrome effectively treated by propranolol and atrial pacing]." 01/01/1991 - "Drug therapy was performed in 6 patients during EPS (1.7 drugs/case), which was effective in one, ineffective in 3, and undetermined in 2. Of 2 patients whose surgical treatment was unsuccessful, atrial pacing with propranolol administration was used in a patient with Romano-Ward syndrome. " 09/01/1975 - "Judging from the fact, propranolol may be the first to be administered among a variety of anti-arrhythmic agents in the Romano-Ward syndrome."
2.	Proteins (Proteins, Gene)FDA Link 04/01/2015 - "Since the Kv7.1's C-terminus accounts for nearly 50 % of the overall protein and nearly 50 % of the overall background rate of rare variants falls within the C-terminus, further enhancement in mutation calling may provide guidance in distinguishing pathogenic long QT syndrome type 1 (LQT1)-causing mutations from rare non-disease-causing variants in the Kv7.1's C-terminus. " 03/20/1998 - "Mutations in the KvLQT1 gene are the cause of the long QT syndrome 1. KvLQT1 gene product is associated with the regulator protein IsK to produce a component of the delayed rectifier K+ current in cardiac myocytes. " 09/18/2012 - "In this study, we used quantitative proteomic 2-D Fluorescence Difference In-Gel Electrophoresis (2-D DIGE) in conjunction with mass spectrometry to demonstrate differential protein expression in the hearts of transgenic rabbit models of Long QT Syndrome 1 (LQT1) and Long QT Syndrome 2 (LQT2) as compared to littermate controls (LMC). "
3.	KCNQ1 Potassium ChannelIBA 01/01/2017 - "According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1 cases. "
4.	HLA-DR4 Antigen (HLA DR4 Antigen)IBA 08/01/1993 - "This study suggests that in our patient IDDM, as well as Romano-Ward syndrome, is linked with chromosome 11p in the presence of HLA-DR4. "
5.	Ergonovine (Ergometrine)IBA 01/01/1991 - "Underlying diseases included old myocardial infarction (OMI) with aneurysm (An) in 6 patients, variant angina, arrhythmogenic right ventricular dysplasia, Romano-Ward syndrome, complete atrioventricular block in one each, and diseases of unknown etiology in 2. Ergonovine-provocative coronary angiography (CAG) was performed in 3 patients, and EPS including ventricular tachycardia study was performed in 7. Coronary artery spasm was induced in one patient during CAG; sustained monomorphic ventricular tachycardia in 4 patients; and repetitive ventricular response in 2 of 7 patients examined by EPS. "
6.	Moxifloxacin (Avelox)FDA Link 01/01/2018 - "All tracings were different from the study of 4 algorithms reported in 2014, and the selected population was heavily weighted toward groups with known effects on the QT interval: included were 200 normal subjects, 200 normal subjects receiving moxifloxacin as part of an active control arm of thorough QT studies, 200 subjects with genetically proved long QT syndrome type 1 (LQT1), and 200 subjects with genetically proved long QT syndrome Type 2 (LQT2). "
7.	Potassium Channels (Potassium Channel)IBA 11/01/2022 - "We therefore compared the QT interval adaptation to rapid HR increase in patients with the long QT syndrome type 1 (LQT1) versus healthy controls because LQT1 is caused by loss-of-function mutations affecting the repolarizing potassium channel current IKs , presumably an important player in QT hysteresis. " 10/07/2010 - "In long-QT syndrome type 1, mutations occur in the KCNQ1 gene, which encodes the repolarizing potassium channel mediating the delayed rectifier I(Ks) current. " 08/15/2005 - "Dominant-negative I(Ks) suppression by KCNQ1-deltaF339 potassium channels linked to Romano-Ward syndrome." 08/07/2015 - "This genotype-phenotype correlation is analogous to that in KCNQ1 which causes autosomal dominant hereditary long QT syndrome 1 with milder phenotype and the autosomal recessive Jervell and Lange-Nielsen syndrome 1 with more severe phenotype due to deletion of the cytoplasmic C-terminus of the potassium channel. " 06/23/1998 - "Mutations of the KVLQT1 gene, a cardiac potassium channel, generate two allelic diseases: the Romano-Ward syndrome, inherited as a dominant trait, and the Jervell and Lange-Nielsen syndrome, inherited as an autosomal recessive trait. "
8.	PotassiumIBA 01/01/2022 - "Dysfunction of potassium voltage-gated channel subfamily Q member 1 (KCNQ1) is a primary cause of long QT syndrome type 1 (LQT1). " 10/01/2018 - "Long QT syndrome type 1 (LQT1) is caused by mutations in KCNQ1, which encodes the α subunit of the slow delayed rectifier potassium current channel. " 01/01/2015 - "Long QT syndrome type 1 (LQT1) is a congenital disease arising from a loss of function in the slowly activating delayed potassium current IKs, which causes early afterdepolarizations (EADs) and polymorphic ventricular tachycardia (pVT). " 12/01/2013 - "Strikingly, BMP misregulation seen in 3-OST-7 morphants also occurs in multiple cardiac noncontraction models, including potassium voltage-gated channel gene, kcnh2, affected in Romano-Ward syndrome and long-QT syndrome, and cardiac troponin T gene, tnnt2, affected in human cardiomyopathies. " 11/01/2019 - "HCM signals included data recorded from iPSC-CMs carrying either α-tropomyosin, i.e., TPM1 (HCMT) or MYBPC3 or myosin-binding protein C (HCMM) mutation and LQTS signals included data recorded from iPSC-CMs carrying potassium voltage-gated channel subfamily Q member 1 (KCNQ1) mutation (long QT syndrome 1 [LQT1]) or KCNH2 mutation (long QT syndrome 2 [LQT2]). "
9.	Adenosine Monophosphate (AMP)IBA 04/01/2021 - "Retraction of: Systematic Evaluation of KCNQ1 variant using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 1." 12/01/2020 - "Systematic Evaluation of KCNQ1 variant using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 1: Expression of Concern." 09/16/2020 - "Conclusions - Comprehensive evaluation of clinical findings and pathogenicity of KCNQ1 variants based on the ACMG/AMP-based evaluation may stratify arrhythmic risk of congenital long-QT syndrome type 1." 09/16/2020 - "Systematic Evaluation of KCNQ1 Variant Using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 1." 12/07/2021 - "Mutation type, location, dominant-negative IKs reduction, and possibly loss of cyclic adenosine monophosphate (cAMP)-dependent IKs stimulation via protein kinase A (PKA) influence the clinical severity of long QT syndrome type 1 (LQT1). "
10.	Protein Isoforms (Isoforms)IBA 03/20/1998 - "A dominant negative isoform of the long QT syndrome 1 gene product." 01/01/2017 - "A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report."

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 01/01/1991 - "Drug therapy was performed in 6 patients during EPS (1.7 drugs/case), which was effective in one, ineffective in 3, and undetermined in 2. Of 2 patients whose surgical treatment was unsuccessful, atrial pacing with propranolol administration was used in a patient with Romano-Ward syndrome. "
2.	Therapeutics 01/20/2009 - "Beta-blocker efficacy in long-QT syndrome type 1 is good but variably reported, and the causes of cardiac events despite beta-blocker therapy have not been ascertained. " 04/01/1995 - "therapy with QT-prolonging drugs), congenital variants (Romano-Ward syndrome, Jervell/Lange-Nielsen syndrome, sporadic form) can occur as well. " 10/01/2011 - "β-Blocker therapy reduces syncope and sudden death in long-QT syndrome type 1 (LQT1), but the mechanism of protection is incompletely understood. "
3.	Cesarean Section (Caesarean Section) 02/01/1992 - "[Hereditary prolonged QT interval (Romano-Ward syndrome) in a female patient with non-elective cesarean section]." 08/01/1995 - "Epidural anesthesia for cesarean section in a patient with Romano-Ward syndrome." 01/01/2005 - "Successful management of cesarean section in a patient with Romano-Ward syndrome using landiolol, a selective and short-acting beta1 receptor antagonist."
4.	Laser Therapy (Surgery, Laser) 04/01/2000 - "A 48-year-old woman with Romano-Ward syndrome (a hereditary long QT syndrome), asthma and an automatic implantable cardioverter defibrillator presented for laser surgery for debulking of a massive nasopharyngeal tumour prior to radiotherapy. "
5.	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 04/01/2000 - "A 48-year-old woman with Romano-Ward syndrome (a hereditary long QT syndrome), asthma and an automatic implantable cardioverter defibrillator presented for laser surgery for debulking of a massive nasopharyngeal tumour prior to radiotherapy. "