EP News: Pediatric and Congenital Electrophysiology
Martinez KA et al (J Am Coll Cardiol 2023;82:661-670) evaluated the clinical outcomes of elite athletes (NCAA division I or professional) with a genetic heart disease (GHD). Data was obtained retrospectively from 76 athletes (age 19.5 ±5 years) presenting to one of the 4 participating study centers. Most patients had hypertrophic cardiomyopathy (HCM) (53%) or long QT syndrome (26%) and most had their GHD first detected on preparticipation screening. Initially 72% had been disqualified. Ultimately 91% of the total cohort made a s hared-decision-making choice to return-to-play after expert consultation and disease specific ...
Source: Heart Rhythm - September 5, 2023 Category: Cardiology Authors: Martin J. LaPage Source Type: research
Cardiovascular Screening before Sports Participation: Results of
11487 Children
Conclusion Positive ECG and echocardiography findings involve a very
little ratio.But ECG involves an important tool for screening lethal cardiac
arrhythmias in asymptomatic patients.If ECG or echocardiography couldn’t
be taken, further evaluation should be necessary with symptoms and/or
family history. Keywords: Echocardiography, electrocardiography, pediatric,
screening, sports [...] Georg Thieme Verlag Rüdigerstraße 14, 70469 Stuttgart,
GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Klinische Padiatrie)
Source: Klinische Padiatrie - September 4, 2023 Category: Pediatrics Authors: Duman, Derya Demetg ül, Hasan Sel, Kutay D önmez, Yasemin Nuran Çelikkaya, Mehmet Emin H üzmeli, Esra Doğru Ak ın, Alper Tags: Original Article Source Type: research
Generation of patient-specific induced pluripotent stem cell lines with Type 2 Long QT Syndrome and the KCNH2 c.379C & gt; T pathogenic variant
Stem Cell Res. 2023 Aug 25;72:103192. doi: 10.1016/j.scr.2023.103192. Online ahead of print.ABSTRACTType 2 Long QT Syndrome (LQT2) is a rare genetic heart rhythm disorder causing life-threatening arrhythmias. We derived induced pluripotent stem cell (iPSC) lines from two patients with LQT2, aged 18 and 6, both carrying a heterozygous missense mutation on the 3rd and 11th exons of KCNH2. The iPSC lines exhibited normal genomes, expressed pluripotent markers, and differentiated into trilineage embryonic layers. These patient-specific iPSC lines provide a valuable model to study the molecular and functional impact of the hERG...
Source: Cell Research - September 3, 2023 Category: Cytology Authors: Lamia Goual Elisa Bounasri Marie Vincenti Pascal Am édro Romain Desprat Florence Bernex Jean-Marc Lemaitre Jean-Luc Pasqui é Alain Lacampagne J érôme Thireau Albano C Meli Source Type: research
Clinical and Genetic Features of Korean Inherited Arrhythmia Probands
CONCLUSIONS: There were significant differences in clinical characteristics and genetic yields among BrS, LQTS, and IVF. Genetic testing did not provide better yield for BrS and LQTS. On the other hand, in IVF, genetic testing using multiple gene panel might enable the molecular diagnosis of concealed genotype, which may alter future clinical diagnosis and management strategies.PMID:37653714 | DOI:10.4070/kcj.2023.0083 (Source: Korean Circulation Journal)
Source: Korean Circulation Journal - September 1, 2023 Category: Cardiology Authors: Joo Hee Jeong Suk-Kyu Oh Yun Gi Kim Yun Young Choi Hyoung Seok Lee Jaemin Shim Yae Min Park Jun-Hyung Kim Yong-Seog Oh Nam-Ho Kim Hui-Nam Pak Young Keun On Hyung Wook Park Gyo-Seung Hwang Dae-Kyeong Kim Young-Ah Park Hyoung-Seob Park Yongkeun Cho Seil Oh Source Type: research
