The mutation was present in all affected family members; the mutation was not present in unaffected family members or in 100 normal, unrelated individuals. [ncbi.nlm.nih.gov]

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]

Diagnosis At present, there are no diagnostic criteria for SQTS. [lifeinthefastlane.com]

• Developmental Delay

  Neuropsychiatric involvement includes global developmental delays and autism spectrum disorders. Ventricular tachyarrhythmia is the leading cause of death, followed by infection and complications of intractable hypoglycemia. [ncbi.nlm.nih.gov]

  One TS child met criteria for autism spectrum disorders and one had severe delays in language development. Thus, TS is a complex physiological and developmental disorder affecting multiple organ systems including the heart, digits, and brain. [doi.org]

  LQT8 is more strikingly multi-systemic, leading to congenital heart disease, syndactyly (depending on the mutation), immune deficiency, intermittent hypoglycemia, developmental delay, and autism (Timothy syndrome; TS). [nature.com]

• Recurrent Infection

  Additional common features included congenital heart disease, dysmorphic facial features, myopia, immune deficiency, recurrent infections, intermittent hypoglycemia, and hypothermia. [doi.org]

• 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]

• Dental Caries

  Children with this condition have small, misplaced teeth and frequent cavities (dental caries). [ghr.nlm.nih.gov]

• Low Set Ears

  About half of affected people have distinctive facial features such as a flattened nasal bridge, low-set ears, a small upper jaw, and a thin upper lip. Children with this condition have small, misplaced teeth and frequent cavities (dental caries). [ghr.nlm.nih.gov]

  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]

  One of them is the Andersen-Tawil syndrome (LQTS 7), whose array of features includes a potassium-sensitive periodic paralysis (triggered by exercise or by glucose ingestion), hypertelorism, widened nose base, low-set ears, highly convex palate, small [romanianjournalcardiology.ro]

  These patients suffer from periodic paralysis and ventricular tachyarrhythmias and have a variety of dysmorphic features, including micrognathia, low set ears, widely spaced eyes, and clinodactyly. [karger.com]

• Depressed Nasal Bridge

  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]

  Notable facial characteristics included a protruding forehead, depressed nasal bridge, and protruding tongue. Dental enamel was poorly developed, and severe caries prompted the extraction of most teeth. [doi.org]

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]

• 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]

Types of treatment of LQTS Treatment of LQTS includes lifestyle changes, dietary changes and so forth. (1-7) Lifestyle changes Patients are advised of lifestyle changes. [news-medical.net]

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]

Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional. [betterhealth.vic.gov.au]

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]

The prognosis of the disease is usually good in patients that are correctly diagnosed and treated. [ncbi.nlm.nih.gov]

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]

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]

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]

Physicians must remain vigilant and consider LQTS as a possible etiology in patients with a history of syncope. [radcliffecardiology.com]

This paper reviews the common presentations, genetic etiology, basic evaluation, risk stratification, and therapeutic approach for both syndromes. [karger.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]

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]

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]

The genetic epidemiology of both forms can vary with subpopulation depending on the allele, but as a whole, LQTS appears in every corner of the globe. [nature.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]

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]

Treatment Approach The treatment scheme is similar for both of these congenital arrhythmias, despite their different pathophysiology and genetic origin. [karger.com]

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 of Primary Manifestations Arrhythmias in Timothy syndrome must be prevented with the standard therapy described in Treatment of Manifestations. [ncbi.nlm.nih.gov]

To prevent this stimulus, pretreatment with fentanyl was done during induction of anaesthesia. [ispub.com]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [naturallivingcenter.net]

However, therapy may help prevent sudden cardiac deaths and greatly improves the chances of survival. Diagnosis of LQTS Before treatment an accurate diagnosis is important. [news-medical.net]