Integration of validated functional evidence to support the pathogenicity of variants.

Functional investigation of genetic variants found in long QT syndrome can provide evidence that is needed to confirm the genetic diagnosis and establish the cause of the condition. We performed functional assessment to determine the -score, using a clinically calibrated automated patch clamp assay, for 2 missense variants found in 2 families that have been diagnosed with long QT syndrome. These variants are currently classified as variant of uncertain significance in ClinVar.

Pediatric and Familial Genetic Arrhythmia Syndromes: Evaluation of Bidirectional Ventricular Tachycardia-Differential Diagnosis.

Bidirectional ventricular tachycardia is a unique arrhythmia that can herald lethal arrhythmia syndromes. Using cases based on real patient stories, this article examines 3 different presentations to help clinicians learn the differential diagnosis associated with this condition. Each associated genetic disorder will be briefly discussed, and valuable tips for distinguishing them from each other will be provided.

Trans-2,3-enoyl-CoA reductase-like-related catecholaminergic polymorphic ventricular tachycardia with regular ventricular tachycardia and response to flecainide.

Introduction: We describe a unique case of TECRL-CPVT presented with cardiac arrest.

Methods: Post resuscitation, the patient developed regular ventricular tachycardia featuring a left purkinje system morphology.

Results: There was clear suppression of arrhythmia with the addition of flecainide and isolated ventricular ectopy causing secondary T-wave changes.

Surgical Outcomes of Congenital Heart Disease in Down Syndrome: Tertiary Center Experience-Focus on the Electrical Conduction System.

To document outcomes of cardiac surgical repair in Down syndrome (DS) patients with specific focus on the associated electrical conduction morbidities, ultimately leading to a higher incidence of pacemaker implantation (PMI). A retrospective study conducted between 2011 and 2020. A total of 167 DS patients undergoing 204 surgeries were included.

Electrocardiogram interpretation among pediatricians: Assessing knowledge, attitudes, and practice.

Objectives: This study assesses the competency of pediatricians in interpreting electrocardiograms (ECGs).

Methods: A cross-sectional study involving 125 pediatricians comprised of 71 general pediatricians, 15 pediatric cardiologists, and 39 other subspecialists recruited from all public hospitals and two specialty centers. Participants completed a questionnaire that included 10 ECGs and questions regarding backgrounds, attitudes, and practices.

Pacemaker implantation post congenital heart disease surgical repair: tertiary center experience.

This was a retrospective study documenting all pacemaker implantations (PMIs) secondary to postoperative atrioventricular block. A total of 26 patients were included between 2011 and 2020. The incidence rate was 1.

A Comparative Study Utilizing the Voice Handicap Index-10 (VHI-10) in Teachers and the General Population of Kuwait.

Objectives: The objective of this study was to determine the prevalence of voice handicap perception of teachers in Kuwait and compare them within the general population by using the validated Arabic version of the voice handicap index-10 (VHI-10). Moreover, we explored variations within the teaching profession itself with regards to specific characteristics.

Methods: The study was a cross-sectional survey design, in which participants from all governates of Kuwait (1820 teachers and 755 controls) completed the validated Arabic VHI-10, health-related, and demographic questions.