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Long QT Syndrome 14

Romano-Ward Syndrome


Presentation

  • They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.[uniprot.org]
  • Case presentation: We describe a 14-year-old boy with hypopituitarism after trans-sphenoidal surgery (TSS) due to suprasellar mass who manifested bradycardia and QT prolongation on electrocardiogram.[abstracts.eurospe.org]
  • Patient Presentation An 11-year-old female came to clinic with a hacking cough for the past 4 days. It was bothering her during the day and night. She had no rhinorrhea, fever, nausea, vomiting or shortness of breath.[pediatriceducation.org]
  • Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the presentation of the disease.[rarediseases.org]
  • Key words Long QT syndrome Neonatal presentation Syncope Ventricular arrhythmias This is a preview of subscription content, log in to check access. Preview Unable to display preview. Download preview PDF. References 1.[link.springer.com]
Death in Infancy
  • They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.[uniprot.org]
Pertussis
  • Pertussis was circulating in the community, but not influenza. The past and family medical history showed a history of long QT syndrome that was diagnosed after the paternal grandfather had a syncopal incident.[pediatriceducation.org]
  • Despite the FDA’s warning, azithromycin obviously continues to have an important role in treating certain infections (especially pertussis) in the pediatric population.[uspharmacist.com]
Rhinorrhea
  • She had no rhinorrhea, fever, nausea, vomiting or shortness of breath. Overall she just didn’t feel well but was attending school and doing her sports activities.[pediatriceducation.org]
Pharyngitis
  • Discussion Mycoplasma pneumoniae is a frequent cause of pharyngitis, pneumonia and acute bronchitis, but acute otitis media is uncommon.[pediatriceducation.org]
Normal Hearing
  • Italian pediatrician Cesarino Romano, in 1963 and Irish pediatrician Owen Conor Ward, in 1964 separately described the more common variant of Long QT syndrome with normal hearing, later called Romano-Ward syndrome.[slideshare.net]
  • Family members with one mutant KVLQT1 allele had the long-QT syndrome but had normal hearing.[nejm.org]
  • Subsequent descriptions of an almost identical condition aside from normal hearing were made in 1963 by Romano (2) and 1964 by Ward (3), who described multiple individuals from two distinct families affected by recurrent ventricular fibrillation, a condition[rarediseases.org]
  • hearing, later called Romano-Ward syndrome.[en.wikipedia.org]
Blurred Vision
  • This subject complained of blurred vision and bilateral temporal hemianopsia for 1 month. Brain magnetic resonance image (MRI) revealed 3 cm sized suprasellar mass and TSS was performed.[abstracts.eurospe.org]
  • If you have a normal fainting spell, you usually will have a warning sign first, such as lightheadedness, heart palpitations, irregular heartbeat, weakness or blurred vision.[mayoclinic.org]
Hemianopsia
  • This subject complained of blurred vision and bilateral temporal hemianopsia for 1 month. Brain magnetic resonance image (MRI) revealed 3 cm sized suprasellar mass and TSS was performed.[abstracts.eurospe.org]
Withdrawn
  • Name Long Qt Syndrome 14 Synonyms - Classification cardiac, genetic Phenotypes Autosomal dominant inheritance ; Cardiac arrest ; Prolonged QTc interval ; Sudden death ; Ventricular fibrillation Associated Genes CALM1 (Withdrawn symbols: CALML2, CAMI,[mousephenotype.org]
  • […] several categories of common medications that should be avoided in patients with LQTS including: Antibiotics – macrolides, fluoroquinolones, trimethoprim-sulfa Antifungals – some azole antifungals Antihistamines – terfenadine and astemizole have been withdrawn[pediatriceducation.org]
  • A recent study, however, found that only 48% of more than 800 pediatricians completed an in-depth cardiac history and physical, and that only 14.7% ordered an ECG prior to initiating stimulant therapy. 12 Most recently, the AAP has withdrawn recommendations[uspharmacist.com]
Phenylketonuria
  • Issues in newborn screening for phenylketonuria. Am Fam Physician. 1999;60:1462-1466. 12. Leslie LK, Rodday AM, Saunders TS, et al. Cardiac screening prior to stimulant treatment of ADHD: a survey of US-based pediatricians.[uspharmacist.com]
Seizure
  • Case report A 29 year-old Caucasian male, recently diagnosed with seizure disorder, was brought to emergency room for altered mental status with combative behavior.[jtd.amegroups.com]
  • Diagnosis • Personal/family Hx • LongQTS-triggered syncope/seizure/SCD • Provoke like accident/drownings/emotional/sleep/rest • ECG: QTc 450msec(M) & 460msec (F) 22. Schwartz score 3.5:high (P) 23. Bazett’s QTc QT/ RR 24. Rare variants 25.[slideshare.net]
  • Interestingly an overlap between LQTS and true epileptic seizures is recognized in a small proportion of patients with long QT2.[rarediseases.org]
  • […] disorder should be suspected when the electrocardiogram shows characteristic QT abnormalities, or when there is a family history of long QT syndrome or of an event that raises suspicion of long QT syndrome, such as sudden death, syncope, or ill-defined “seizure[mdedge.com]
Altered Mental Status
  • Case report A 29 year-old Caucasian male, recently diagnosed with seizure disorder, was brought to emergency room for altered mental status with combative behavior.[jtd.amegroups.com]
Hyperactivity
  • Cardiovascular monitoring and stimulant drugs for attention-deficit/hyperactivity disorder. Pediatrics. 2008;122:451-453. 14. FDA.[uspharmacist.com]

Workup

  • The Mayo Clinic cases analyzed were anonymous samples derived from fetuses referred to the Mayo Clinic for chromosomal analysis as part of a workup for unexplained fetal death and were noted to be nonanomalous and found to be karyotypically normal.[jamanetwork.com]
QTc Interval Prolonged
  • ICH E14 Step 2: The Clinical Evaluation of QT/QTc Interval Prolongation and Proarrhythmic Potential for Non-Antiarrhythmic Drugs. www.fda.gov/ohrms/dockets/dockets/04d0377/04D-0377-EC7-Attach-1.pdf. Accessed January 30, 2014. 15.[uspharmacist.com]
  • Hypokalemia, hypocalcemia, and use of loop diuretics are risk factors for QTc interval prolongation. [4] LQTS has been recognized as mainly Romano-Ward syndrome (ie, familial occurrence with autosomal dominant inheritance, QT prolongation, and ventricular[emedicine.medscape.com]
2:1 Atrioventricular Block
  • There is 2:1 atrioventricular block because the t wave has not even started when the next p wave appears; since ventricular repolarisation has not yet occurred, the ventricle cannot yet be depolarised again.[adc.bmj.com]
  • Timothy syndrome may include a functional 2/1 atrioventricular block, due to an exceedingly long QT interval5,19,48.[romanianjournalcardiology.ro]
Torsades De Pointes
  • The delayed recovery predisposes individuals to the development of early afterdepolarizations and initiation of torsade de pointes arrhythmias. The torsade produces the syncope and sudden death.[journals.lww.com]
  • LQTS manifestations include syncope, ventricular tachyarrhythmias, torsade de pointes and also cardiac arrest or unexplained sudden death. Patients may also be identified through family history or incidental ECG findings.[pediatriceducation.org]
  • ICDs do not prevent the occurrence of torsade de pointes and, therefore, are used in conjunction with beta blockers and/or cardiac sympathectomy.[rarediseases.org]
  • de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).[slideshare.net]
  • Okt. 2013 The long QT syndrome (LQTS) is a rare inherited heart condition in which delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsades de pointes (TDP, a form of irregular heartbeat that originates from[de.slideshare.net]
T Wave Alternans
  • A 24-hour ambulatory ECG tracing was obtained in each individual. 5/14 patients with LQTS had pathological findings during ambulatory ECG monitoring (2 patients with episodes of torsade de pointes tachycardia, 2 patients with T-wave alternans and 1 patient[karger.com]
  • Follow-up electrocardiograms and Holter records show persistent QT prolongation, bizarre T waves, and intermittent episodes of T wave alternans. On propranolol monotherapy the boy is thriving and completely free of ventricular arrhythmias.[link.springer.com]
  • wave alternans occurs or the patient is intolerant of the infusion.[inmo.ie]
  • B , Alternating T-wave axis and morphology (T-wave alternans) leading to an episode of torsades de pointes (TdP) triggered by a ventricular ectopic beat.[circ.ahajournals.org]
  • Schwartz Score (Updated in 2011) 16 Points ECG findings QTc 480 ms 3 460–470 ms 2 450 (male) ms 1 4-min recovery QTc after exercise test 480 ms 1 Torsades de pointes 2 T-wave alternans 1 Notched T wave in 3 leads 1 Low heart rate for age 0.5 Clinical[jstage.jst.go.jp]
Biphasic T Wave
  • In addition to the diagnostic criteria just mentioned, T wave morphology may help differentiate LQT1–3. 27 Typically, a broad T wave is observed in LQT1 ( Figure A ), a biphasic T wave in LQT2 ( Figure B ) and a late-appearing T wave in LQT3, which has[jstage.jst.go.jp]

Treatment

  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Recent studies suggest feasibility of genotype specific treatment of LQTS and, in near future, mutation specific treatment will probably become a novel approach to this potentially fatal syndrome.[jtd.amegroups.com]
  • LTQTS subtypes influence the arrhythmia risk and also the choice of treatment including no specific treatment for some patients.[pediatriceducation.org]
  • The principal treatment is beta-blocker therapy. Appropriate dosing, with ascertainment of efficacy and compliance with administration, are the key elements in therapeutic success.[journals.lww.com]
  • Standard Therapies Treatment is aimed at preventing symptoms such as syncope or cardiac arrest.[rarediseases.org]

Prognosis

  • […] may experience symptoms from as early as the first months of life to as late as middle age. 2 LQTS can be detected in children through ECG, although widespread routine screening in asymptomatic patients is not currently recommended in the U.S. 7 The prognosis[uspharmacist.com]
  • In addition to an improved prognosis, we can better prepare for changes in a patient’s condition and triage them to more appropriate receiving facilities. How Do I Detect LQTS? As the name implies, simply measure the QT/QTc interval.[emsworld.com]
  • The relationship of heart rate variability with severity and prognosis of cirrhosis. Dig Dis Sci. 2006; 51 :1614–1618. [ PubMed ] [ Google Scholar ] 15. Hendrickse MT, Thuluvath PJ, Triger DR.[ncbi.nlm.nih.gov]

Etiology

  • […] taught in most EMS curricula and may be overlooked. 1 This condition is identified by a long QT interval on an electrocardiogram (ECG) and may be congenital or medication-induced. 2 An increasing number of sudden cardiac arrests with previously unknown etiology[emsworld.com]
  • Clinical features and etiology of hepatocellular carcinoma arising in patients with membranous obstruction of the inferior vena cava: in reference to hepatitis viral infection.[ncbi.nlm.nih.gov]
  • […] patients, and aborted cardiac arrest/sudden cardiac death (ACA/SCD) is rare (1–3%). 6 Of the patients who eventually become symptomatic, 50% experience their first cardiac event by the age of 12, and 90% by the age of 40. 7 LQTS is also known as an etiology[jstage.jst.go.jp]
  • Advances in molecular and genetic cardiology over the past 20 years, coupled with increasing awareness of inherited conditions in the etiology of sudden cardiac death, have moved LQTS from the periphery to mainstream clinical medicine.[circ.ahajournals.org]
  • Etiology of sudden death in an apparently normal heart (7-10) Congenital LQTS inside the genetic anomalies of the ion channels So far, there is a spectrum of inherited arrhythmia syndromes arising from genetic defects in structures involved in the genesis[romanianjournalcardiology.ro]

Epidemiology

  • Epidemiological studies of SIDS have shown some link to sedative medications, but not yet to ingestion of QT prolonging medications.[adc.bmj.com]
  • Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study. Int J Legal Med. 2006; 120 :129–37. [ PubMed : 16012827 ] Westenskow P, Splawski I, Timothy KW, Keating MT, Sanguinetti MC.[ncbi.nlm.nih.gov]
  • American Journal of Epidemiology, 170, 739-746. doi:10.1093/aje/kwp191 Van Noord, C., Sturkenboom, M.C., Straus, S.M., Hofman, A., Kors, J.A., Witteman, J.C. and Stricker, B.H. (2010).[file.scirp.org]
  • The p.R518X prevalence estimate of 1:2000-4000 presented in this study is based on extrapolations from genetic, genealogical and epidemiological data, and as such should be interpreted with caution.[bmccardiovascdisord.biomedcentral.com]
  • […] who are untreated, the risk of death within 15 years is around 50%. [6] With careful treatment this decreases to less than 1% over 20 years. [3] Those who exhibit symptoms before the age of 18 are more likely to experience a cardiac arrest. [18] [36] Epidemiology[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology of hepatic dysfunction and intrahepatic cholestasis in heart failure and after left ventricular assist device support. J Heart Lung Transplant. 2005; 24 :361–370. [ PubMed ] [ Google Scholar ] 122.[ncbi.nlm.nih.gov]
  • The role of the sympathetic nervous system in the long QT syndrome: the long road from pathophysiology to therapy. Long QT syndrome. Cardiac Electrophysiology Clinics, volume 4, number 1. Editors: Priori SG, Thakur RK, Natale A.[romanianjournalcardiology.ro]
  • "Molecular Pathophysiology of Congenital Long QT Syndrome". Physiological Reviews. 97 (1): 89–134. doi : 10.1152/physrev.00008.2016. PMC 5539372. PMID 27807201. a b Giudicessi JR, Ackerman MJ (October 2013).[en.wikipedia.org]

Prevention

  • Conclusion: This case highlights that hormonal disorders should be considered as a cause of arrhythmia or prolongation of QT intervals and this can be prevented and cured by appropriate hormone replacement therapy.[abstracts.eurospe.org]
  • Prophylactic β-blocker therapy was started in these two patients to prevent sudden death. In conclusion, this syndrome should be sought in children with syncope or a family history of it, especially those with congenital deafness.[link.springer.com]
  • Early diagnosis and preventive treatment are instrumental in preventing sudden cardiac deaths in patients with the congenital LQTS.[jtd.amegroups.com]
  • Standard Therapies Treatment is aimed at preventing symptoms such as syncope or cardiac arrest.[rarediseases.org]
  • June 13, 2017 WIRED: A Radical Proposal For Preventing Rare Genetic Diseases Read More April 14, 2017 Parent of a Medically Complex Child, “I am Always Choosing Between the Lesser… Read More November 23, 2013 Martial Arts Expert Suffers From Andersen-Tawil[globalgenes.org]

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