A molecular link between the sudden infant death syndrome and the long-QT syndrome. [ncbi.nlm.nih.gov]

Mutations in the KCNQ1 gene have also been associated with several other conditions related to heart rhythm abnormalities, including sudden infant death syndrome (SIDS) and acquired long QT syndrome. [preventiongenetics.com]

Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current. Circ Arrhythm Electrophysiol 2009; 2:667–676. Chockalingam P, Crotti L, Girardengo G, et al. [itaca.edu.es]

In addition to those patients who had life-threatening events with the 3 main triggers, 15 (37%) suffered a CA/SD associated with “other conditions” (fever, pregnancy, anesthesia, normal daily activities, sepsis with low K , diarrhea). [ahajournals.org]

同 semicircular duct 半規管 " 半規管膨大部 半月裂孔 感覚レベル 同 susceptibility test, resistance test 抗菌薬感受性試験 " 感作 感音難聴 同 Wernicke aphasia 感覚失語 " 感覚細胞 S １ １ ４ sen S sensory epithelium 感覚上皮 sensory hair 感覚毛 sentence intelligibility 文章了解度 sentinel lymph node センチネルリンパ節 sepsis [upslide.site]

A 3-year-old boy presented to the emergency ward in an unconscious state after an episode of convulsions at home. Airway was secured with endotracheal intubation, and intravenous access was established. [ijaweb.org]

Being a recessive disease, J-LN is far less common than the Romano-Ward syndrome, and the reports available are based primarily on either anecdotal observations or very small series of patients, which suggests a more severe clinical course than Romano-Ward [ahajournals.org]

The KCNE1 gene is located on the long arm (q) of chromosome 21 (21q22.1-q22.2). Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. [rarediseases.org]

The parents and 2 other children were healthy and had normal hearing. The deaf-mute children all suffered attacks of fainting, probably Adams-Stokes seizures caused by standstill of the heart. [litfl.com]

In the inner ear, these channels help maintain the proper ion balance needed for normal hearing. The KCNQ1 protein is also produced in the kidney, lung, stomach, and intestine, where it is involved in transporting molecules across cell membranes. [preventiongenetics.com]

[…] the presence of a markedly prolonged QT interval, congenital deafness, and a high incidence of sudden cardiac death in childhood. 1 Following the reports by Romano et al 2 and Ward 3 of an almost identical familial disease differing only in respect to normal [ahajournals.org]

Phenotype in hearing first-degree relatives Cardiac phenotype in first-degree relatives with normal hearing was largely asymptomatic, according to the interview data. [academic.oup.com]

Triggers for cardiac events were typically physical exercise or emotional excitement (such as stress, fear, or anger), and in 10% of described events two or more concurrent triggers were present. [academic.oup.com]

The average age of death in patients with this disease is 2.5 years. [10] Andersen Tawil syndrome is also a rare autosomal dominant disorder characterized by a triad of episodic flaccid paralysis, prolonged QT interval/ventricular arrhythmias, and physical [statpearls.com]

[…] computed tomography concha auriculae（ラ） concha bullosa（ラ） concomitant chemoradiotherapy concussion of labyrinth condenser microphone conditioned orientation response audiometry conducting airway conduction aphasia conductive hearing loss condylar process confusion [upslide.site]

neuralgia trigeminal neuroma trigemino-facial reflex trigemino-thalamic tract triple combination therapy tripod fracture trismus 同 propagation loss 伝搬損失 ! [upslide.site]

Jervell-Lange-Nielsen Syndrome is a genetic condition associated with a prolonged QT interval on the ECG and conginital hearing loss. A mutation of the cardiac potassium channel is responsible, specifically the KCNQ1 (90%) and KCNE1 (10%) genes. [healio.com]

Title Other Names: JLNS1; Deafness, congenital, and functional heart disease; Prolonged QT interval in EKG and sudden death; JLNS1; Deafness, congenital, and functional heart disease; Prolonged QT interval in EKG and sudden death; Cardioauditory syndrome [rarediseases.info.nih.gov]

The diagnosis of RWS is made based on a prolonged QT interval on ECG, clinical presentation, and family history. The most common genes associated with the syndrome are KCNQ1, KCNH2, and SCN5A. [statpearls.com]

Congenital deaf-mutism, prolonged QT interval, syncopal attacks and sudden death. N Engl J Med. 1958 Aug 28;259(9):412-7. [ PMID 13578073 ] Fraser GR, Froggatt P, James TN. Congenital deafness associated with electrocardiographic abnormalities. [litfl.com]

Review. autosomal recessive long QT syndrome (LQTS) cardio-auditory-syncope syndrome cardioauditory syndrome of Jervell and Lange-Nielsen deafness, congenital, and functional heart disease Jervell-Lange Nielsen syndrome JLNS prolonged QT interval in EKG [ghr.nlm.nih.gov]

The diagnosis is made by clinical characteristics and a pathogenic variant in the KCNJ2 gene. [11] Acquired causes of QTc interval prolongation are most often caused by specific drugs, hypokalemia, and hypomagnesemia. [statpearls.com]

The list of familial arrhythmia syndromes has been in recent years expanded by the recognition of two other disorders, namely early repolarization syndrome and idiopathic ventricular fibrillation (VF) [ 7 ]. [jmedicalcasereports.biomedcentral.com]