Results 61 to 70 of about 10,133 (162)

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 636-642, May 2026.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Long QT interval in resting electrocardiogram – and what next? Sports cardiologist’s pointofview. Part 1. From electrophysiology to diagnostics

Pediatria i Medycyna Rodzinna, 2014
Electrocardiography is the most common and available cardiovascular diagnostic procedure and an important tool in everyday clinical practice of a family physician. Electrocardiogram interpretation is therefore an invaluable clinical skill.
Zbigniew Krenc
doaj   +1 more source

CONGENITAL LONG QT SYNDROME MASKED BY AQUIRED LONG QT SYNDROME

Journal of the American College of Cardiology, 2016
Some patients with acquired long QT syndrome (LQTS) represent an incomplete form of congenital LQTS in which a mutation or polymorphism in one of the LQTS genes is clinically inapparent until the patient is exposed to a particular drug or other predisposing factor.
Hideka Hayashi, Hiroshi Fujita, Yoshimi Takahashi, Shinsuke Yamanaka, Tsuyoshi Shinozaki   +4 more
openaire   +1 more source

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source

Masquerade of a Silent Killer

Oman Medical Journal, 2011
Congenital long QT syndrome (LQTS), referred to as a ticking time-bomb is a cause of sudden death in young infants, children and adults.1 Its prevalence is estimated to be 1 in 2500 to 1 in 10,000 individuals internationally, with no racial predilection ...
Padmini Venkataramani, Muthuswamy Ramaswamy   +1 more
doaj  

Jervell and Lange-Nielson Syndrome masquerading as intractable epilepsy

Annals of Indian Academy of Neurology, 2012
The long QT syndrome (LQTS) is a cause of syncope and sudden death. Jervell and Lange-Nielson syndrome (JLNS) is an uncommon form of LQTS, having autosomal recessive transmission, and is associated with congenital deafness.
Jagdish P Goyal, Alka Sethi, V B Shah
doaj   +1 more source

Machine Learning‐Based Prediction of Drug‐Induced QTc Changes in a Large Finnish Biobank Cohort

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Prolongation of the QT interval is a known precursor to serious arrhythmias and sudden cardiac death, often triggered by medication use. Current medication risk evaluation platforms rely on literature‐based synthesis and may lag behind real‐world developments.
Ville Langén, Aleksi Winstén, Konsta Teppo, Timo Pohjonen, Jari Laukkanen, Arto Mannermaa, Teemu J. Niiranen, Joonatan Palmu   +7 more
wiley   +1 more source

T-wave alternans in long QT syndrome

Annals of Pediatric Cardiology, 2018
Long QT syndrome (LQTS) is a congenital disorder characterized by prolongation of QT interval in the electrocardiogram (ECG) and a propensity to develop ventricular arrhythmias, which may lead to syncope, cardiac arrest or sudden death. T-wave alternans (
Siddharth Narayan Gadage
doaj   +1 more source

[Congenital long QT syndrome].

Herz, 2007
The long QT syndrome is characterized by prolongation of the heart rate-corrected QT interval on the electrocardiogram and by the occurrence of life-threatening ventricular tachyarrhythmias of the torsade de pointes type. In most cases, the disorder becomes clinically manifest during childhood.
Najeeb, Ahmed, Kamran, Riaz, Ripudeep, Rai, Mohammed, Osman, Abdul, Wase   +4 more
openaire   +3 more sources

Case Report: Two cases of recurrent syncope caused by KCNH2 gene mutation in congenital long QT syndrome

Frontiers in Cardiovascular Medicine
This study presents two cases of congenital long QT syndrome caused by KCNH2 gene mutations. It highlights the critical role of genetic testing in its diagnosis and underscores the importance of early detection and personalized treatment strategies to ...
Aihua Xing, Lifang Liu, Lifang Liu, Wenjuan Pei, Wenjuan Pei, Xiaoyan Zhang   +5 more
doaj   +1 more source