Improving Long-QT syndrome Diagnosis by a Polynomial-Based T-wave Morphology Characterization
Diagnosing long-QT syndrome (LQTS) remains challenging due to a considerable overlap in QT-interval between LQTS and healthy subjects. Characterizing T-wave morphology might improve LQTS diagnosis.
International guidelines advise universal beta blocker therapy as either a class I (symptomatic or QTc> 470 ms) or class II recommendation (asymptomatic and QTc
CONCLUSION: The results indicate that the methods applied would be efficient for the identification of these genetic cardiac diseases. PMID: 32079026 [PubMed - as supplied by publisher]
The human ether-á-go-go–related gene (hERG1) channel conducts small outward K+ currents that are critical for cardiomyocyte membrane repolarization. The gain-of-function mutation N629D at the outer mouth of the selectivity filter (SF) disrupts inactivation and K+-selective transport in hERG1, leading to arrhythmogenic phenotypes associated with long-QT syndrome. Here, we combined computational...
KCNE1 loss-of-function variants cause type 5 long QT syndrome (LQT5). However, most alleged LQT5-causative KCNE1 variants were identified before the true rate of background genetic variation was appreciated fully.
Publication date: Available online 6 February 2020Source: Stem Cell ResearchAuthor(s): Hong-Mei Zhou, Xiao-Qian Zhou, Ji-Zhen Lu, Wen-Wen Jia, Jiu-Hong KangAbstractLong QT syndrome type 8 is an uncommon inherited condition .An induced pluripotent stem cell (iPSC) line was generated from Peripheral blood mononuclear cells (PBMCs) of a 10-year-old patient with heterozygous mutation of p.R858H(c.2573G>A )in the CACNA1C gene. This iPSC model offers a very valuable resource to study the disease pathophysiology and to develop therapeutics for treatment of Long QT syndrome type 8 patients.
NIH-funded ClinGen panel also validates three genes believed to be associated with Long QT syndrome.
PMID: 31983240 [PubMed - as supplied by publisher]
Acquired long QT syndrome is a well-described pathology in the pediatric population. Previous publications demonstrated that patients undergoing hematopoietic stem cell transplantation (HSCT) can develop cardiac complications, and several of these patients develop drug-induced long QT syndrome in the post-transplant period. Previous publications suggest that HSCT patients present significant QT prolongation in the early post-transplantation period.
lini C, Shimamoto K, Tadros R, Cadrin-Tourigny J, Duff HJ, Simpson CS, Roston TM, Wijeyeratne YD, El Hajjaji I, Yousif MD, Gula LJ, Leong-Sit P, Chavali N, Landstrom AP, Marcus GM, Dittmann S, Wilde AAM, Behr ER, Tfelt-Hansen J, Scheinman MM, Perez MV, Kaski JP, Gow RM, Drago F, Aziz PF, Abrams DJ, Gollob MH, Skinner JR, Shimizu W, Kaufman ES, Roden DM, Zareba W, Schwartz PJ, Schulze-Bahr E, Etheridge SP, Priori SG, Ackerman MJ Abstract Background: Insight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic featu...
We examined frequency, clinical characteristics and AF‐related management and outcomes amongst this patient population.MethodsWe retrospectively studied consecutive probands with inherited cardiomyopathy (n=962) and inherited arrhythmia syndromes (n=195) evaluated between 2002 ‐2018.ResultsAF was observed in 5 ‐31% of patients, with the highest frequency in HCM. Age of AF onset was 45.8 ± 21.9 years in the inherited arrhythmia syndromes compared to 53.3 ± 15.3 years in the inherited cardiomyopathies, with 4 CPVT patients developing AF at median age of 20 years. Overall, 11% of patients with AF had a t r...