Presentation
Increased or new currents are presented with bold arrows. SQT 1, 2, and 3 syndromes are presented with the individual repolarizing current effected for each syndrome indicated. [karger.com]
Congenital heart defects are present in approximately 70% of individuals and include PDA, PFO, VSD, TOF, and HCM. Table 2. [ncbi.nlm.nih.gov]
Long QT syndrome sometimes presents itself as a complication due to surgery to correct syndactyly. Other times, children collapse spontaneously while playing. In all cases, it is confirmed with ECG measurements. [en.wikipedia.org]
Entire Body System
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Recurrent Infection
Additional common features included congenital heart disease, dysmorphic facial features, myopia, immune deficiency, recurrent infections, intermittent hypoglycemia, and hypothermia. [doi.org]
Jaw & Teeth
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Small Teeth
Children with this disorder have small teeth, which due to poor enamel coating, are prone to dental cavities and often require removal. [en.wikipedia.org]
LQTS8 Also known as Timothy syndrome (TS), patients show severe QT prolongation on their ECGs, which is combined with syndactyly, baldness at birth, and small teeth in 100% of cases and less penetrant cardiac structural malformations, mental retardation [frontiersin.org]
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Dental Caries
Children with this condition have small, misplaced teeth and frequent cavities (dental caries). [ghr.nlm.nih.gov]
Musculoskeletal
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Muscle Weakness
Andersen-Tawil syndrome (long QT syndrome type 7) is characterized by a triad of features: periodic paralysis (episodic flaccid muscle weakness); prolonged QT interval and ventricular arrhythmias; and dysmorphic features including low-set ears, wide-spaced [ncbi.nlm.nih.gov]
Face, Head & Neck
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Round Face
Facial findings include depressed nasal bridge, low-set ears, thin vermilion border of the upper lip, and round face. Neuropsychiatric involvement includes global developmental delays and autism spectrum disorders. [ncbi.nlm.nih.gov]
Neurologic
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Drop Attacks
Any history of arrhythmic syncope (drop attacks), family history of SCD, or inherited arrhythmias should be sought. [karger.com]
Workup
In this review article we present common clinical scenarios of patients with LQTS and SQTS, review their pathophysiology, and discuss the diagnostic workup and subsequent treatment options. [karger.com]
Serum
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Hypocapnia
[…] hypothermia could theoretically prolong the QT interval through prolonged recovery of inactivated sodium channels. 39 No matter what anesthetic technique is used, light or insufficient anesthesia, hypertension, bradycardia, tachycardia, hypoxemia, and hypocapnia [anesthesiology.pubs.asahq.org]
Hypertrophy
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Biventricular Hypertrophy
In one instance, biventricular hypertrophy and biventricular dysfunction were seen on fetal echocardiogram [ Splawski et al 2005 ]. Congenital heart defects are present in approximately 70% of individuals and include PDA, PFO, VSD, TOF, and HCM. [ncbi.nlm.nih.gov]
Additional findings included biventricular hypertrophy and moderate biventricular dysfunction. The infant girl was born by cesarean section because of severe bradycardia at 38 weeks gestation. [doi.org]
Treatment
Treatment of manifestations: Treatment includes use of beta-blockers and/or other antiarrhythmic drugs to maintain QT interval stability to prevent ventricular tachyarrhythmia. [ncbi.nlm.nih.gov]
Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Please see also our disclaimer. This site complies with the HONcode standard for health information: verify here. Database updated 2019-02-19. [diseasesdatabase.com]
Treatment Self treatment : Most simple boils can be treated at home. Ideally, the treatment should begin as soon as a boil is noticed. Early treatment may prevent later complications. [naturallivingcenter.net]
After treatment, you likely can live and thrive, even with this condition. You may be able to continue being active in recreational — and even competitive — sports. [mayoclinic.org]
Prognosis
The prognosis for patients diagnosed with Timothy syndrome is very poor. Of 17 children analyzed in one study, 10 died at an average age of 2.5 years. [en.wikipedia.org]
The prognosis of the disease is usually good in patients that are correctly diagnosed and treated. [ncbi.nlm.nih.gov]
Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling. [mayomedicallaboratories.com]
Large-scale epidemiologic studies have demonstrated an association between QTc prolongation and cardiac prognosis in patients with heart disease, though many studies lack appropriate adjustment for prior conditions. [nature.com]
However, it should be emphasised that the prognosis of patients with asymptomatic SQTS still remains undefined. [aerjournal.com]
Etiology
This is a good example of the power of genetic diagnosis to direct the selection of appropriate therapy for patients with diseases of heterogeneous genetic etiology. [ncbi.nlm.nih.gov]
This paper reviews the common presentations, genetic etiology, basic evaluation, risk stratification, and therapeutic approach for both syndromes. [karger.com]
Physicians must remain vigilant and consider LQTS as a possible etiology in patients with a history of syncope. [radcliffecardiology.com]
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]
Sex and age-sex modulation of phenotype Sex is an important intrinsic factor in disease etiology and cardiac risk stratification for LQTS patients and their families. [nature.com]
Epidemiology
Hayashi M, Shimizu W and Albert C (2015) The Spectrum of Epidemiology Underlying Sudden Cardiac Death, Circulation Research, 116:12, (1887-1906), Online publication date: 5-Jun-2015. [ahajournals.org]
and 3) patients with implantable cardioverter-defibrillators (ICD)s. 2 On the other hand, for European athletes with LQTS, sports participation is still regarded as taboo irrespective of their genotype/phenotype relationship or clinical history. 3 Epidemiology [acc.org]
[…] health history (context-dependent category), Family history (situation), Family history: NOS, Family history: NOS (situation), FH: NOS (situation), family medical history, FH, FH - Family history, Family health history (finding), Family Medical History, Epidemiology [fpnotebook.com]
Epidemiology Historically, congenital LQTS was thought to be a rare disorder in part because only patients with the most severe QT prolongation were detected and reported. [karger.com]
Investigative teams have published comprehensive clinical-epidemiologic reviews of both long QT syndrome as a family and several of the other channelopathies under Human Genome Epidemiology (HuGE) reviews (e.g., long QT syndrome 21 ) and GeneReviews [currents.plos.org]
Pathophysiology
Treatment Approach The treatment scheme is similar for both of these congenital arrhythmias, despite their different pathophysiology and genetic origin. [karger.com]
Molecular Pathophysiology of Congenital Long QT Syndrome. Physiol Rev. 2017 Jan;97(1):89-134. Review. Modell SM, Bradley DJ, Lehmann MH. Genetic testing for long QT syndrome and the category of cardiac ion channelopathies. [ghr.nlm.nih.gov]
In this review, we will describe exclusively on LQTS linked arrhythmias, its pathophysiology and presently available clinical management. [frontiersin.org]
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]
Prevention
Prevention of Primary Manifestations Arrhythmias in Timothy syndrome must be prevented with the standard therapy described in Treatment of Manifestations. [ncbi.nlm.nih.gov]
Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [naturallivingcenter.net]
Some people — especially older adults with long QT syndrome who haven't had signs or symptoms of the condition in decades — may not need any treatment other than preventive measures. [mayoclinic.org]
Atrial Fibrillation/Supraventricular Arrhythmias, Congenital Heart Disease, CHD and Pediatrics and Arrhythmias, CHD and Pediatrics and Prevention, CHD and Pediatrics and Quality Improvement, Exercise, Sports and Exercise and Congenital Heart Disease [acc.org]
Although β-blockade helps reduce the incidence of cardiac events, it is not entirely effective in preventing TdP and sudden death in c-LQTS. [anesthesiology.pubs.asahq.org]