Une dysfonction sinusale en rapport avec une nouvelle mutation faux-sens du gène SCN5A

Selly, J.-B.; Boumahni, B.; Edmar, A.; Bey, K. Jamal; Randrianaivo, Hanitra; Clerici, G; Millat, Gilles; Caillet, D.

doi:10.1016/j.arcped.2012.04.017

Cited by 8 publications

(1 citation statement)

References 14 publications

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“…CHIKV-associated sepsis is less common in toddlers (1-2 years) than in infants (<1 year) and exceptional in children (3-18 years) [64,76,78]. In infants, circulatory collapse should prompt cardiologic investigation, including echocardiography as cases of acute cardiac failure have been described during CF [79][80][81] and myocarditis demonstrated in a young adult [82].…”

Section: Chikungunya Fever In Childrenmentioning

confidence: 99%

Chikungunya Fever During Pregnancy and in Children: An Overview on Clinical and Research Perspectives

Gérardin¹,

LaBeaud²,

Ritz³

et al. 2016

Current Topics in Chikungunya

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Chikungunya fever CF is an arboviral disease in worldwide expansion due to the plasticity of its pathogen and vector. Chikungunya virus CHIKV , a positive-sense, singlestranded RN" alphavirus, is transmitted by Aedes Stegomyia aegypti and Aedes albopictus mosquitoes, two hegemonic anthropophilic day-biting mosquitoes capable of colonizing very different environments. This expert review discusses the molecular epidemiology, pathophysiology, clinical features, diagnosis, management, and prevention of CF during pregnancy, infancy, and childhood. Specifically, it will focus not only on the issue and challenges of perinatal mother-to-child transmission of CHIKV, its pathogenesis, and effects on neurodevelopment, but also on CHIKV-associated central nervous system disease in children, two previously ill-characterized features of the infection.

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Section: Chikungunya Fever In Childrenmentioning

confidence: 99%

Chikungunya Fever During Pregnancy and in Children: An Overview on Clinical and Research Perspectives

Gérardin¹,

LaBeaud²,

Ritz³

et al. 2016

Current Topics in Chikungunya

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Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia

Bdier

Al-Ghamdi

Verma

et al. 2017

Mol Genet Genomic Med

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BackgroundOne of the most common primary cardiac arrhythmia syndromes is autosomal dominant long QT syndrome, type 1 (LQT1), chiefly caused by mono‐allelic mutations in the KCNQ1 gene. Bi‐allelic mutations in the KCNQ1 gene are causal to Jervell and Lange‐Nielsen syndrome (JLNS), characterized by severe and early‐onset arrhythmias with prolonged QTc interval on surface ECG and sensorineural deafness. Occasionally, bi‐allelic mutations in KCNQ1 are also found in patients without any deafness, referred to as autosomal recessive long QT syndrome, type 1 (AR LQT1).MethodsWe used Sanger sequencing to detect the pathogenic mutations in KCNQ1 gene in eight families from Saudi Arabia with autosomal recessive LQT1.ResultsWe have detected pathogenic mutations in all eight families, two of the mutations are founder mutations, which are c.387‐5T>A and p.Val172Met/p.Arg293Cys (in cis). QTc and cardiac phenotype was found to be pronounced in all the probands comparable to the cardiac phenotype in JLNS patients. Heterozygous carriers for these mutations did not exhibit any clinical phenotype, but a significant number of them have sinus bradycardia.ConclusionTo the best of our knowledge, this is the first description of a large series of patients with familial autosomal recessive LQT, type 1. These mutations could be used for targeted screening in cardiac arrhythmia patients in Saudi Arabia and in people of Arabic ancestry.

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Role of Rare and Common Genetic Variation in SCN5A in Cardiac Electrical Function and Arrhythmia

Barc

Bezzina

2014

Cardiac Electrophysiology Clinics

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Une dysfonction sinusale en rapport avec une nouvelle mutation faux-sens du gène SCN5A

Cited by 8 publications

References 14 publications

Chikungunya Fever During Pregnancy and in Children: An Overview on Clinical and Research Perspectives

Chikungunya Fever During Pregnancy and in Children: An Overview on Clinical and Research Perspectives

Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia

Role of Rare and Common Genetic Variation in SCN5A in Cardiac Electrical Function and Arrhythmia

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