scholarly journals Congenital Hyperinsulinism Caused by Novel Homozygous KATP Channel Gene Variants May Be Linked to Unexplained Neonatal Deaths among Kurdish Consanguineous Families

2020 ◽  
Vol 93 (1) ◽  
pp. 58-65
Author(s):  
Shenali Anne Amaratunga ◽  
Tara Hussein Tayeb ◽  
Klara Rozenkova ◽  
Petra Kucerova ◽  
Stepanka Pruhova ◽  
...  
Keyword(s):  
Congenital Hyperinsulinism ◽  
Gene Variants ◽  
Neonatal Deaths ◽  
Channel Gene

scholarly journals Cardiac Sodium Channel Gene Variants and Sudden Cardiac Death in Women

Circulation ◽  
2008 ◽  
Vol 117 (1) ◽  
pp. 16-23 ◽  
Author(s):  
Christine M. Albert ◽  
Edwin G. Nam ◽  
Eric B. Rimm ◽  
Hong Wei Jin ◽  
Roger J. Hajjar ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Sodium Channel ◽  
Cardiac Death ◽  
Gene Variants ◽  
Channel Gene ◽  
Sodium Channel Gene ◽  
Cardiac Sodium Channel

scholarly journals Increased Burden of Ion Channel Gene Variants Is Related to Distinct Phenotypes in Pediatric Patients With Left Ventricular Noncompaction

2020 ◽  
Vol 13 (4) ◽  
Author(s):  
Keiichi Hirono ◽  
Yukiko Hata ◽  
Nariaki Miyao ◽  
Mako Okabe ◽  
Shinya Takarada ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Ion Channel ◽  
Left Ventricular ◽  
Gene Variants ◽  
Left Ventricular Noncompaction ◽  
Ventricular Noncompaction ◽  
Channel Gene ◽  
Pathogenic Variants ◽  
Generation Sequencing ◽  
Ion Channel Gene

Background: Left ventricular noncompaction (LVNC) is a hereditary type of cardiomyopathy. Although it is associated with high morbidity and mortality, the related ion channel gene variants in children have not been fully investigated. This study aimed to elucidate the ion channel genetic landscape of LVNC and identify genotype-phenotype correlations in a large Japanese cohort. Methods: We enrolled 206 children with LVNC from 2002 to 2017 in Japan. LVNC was classified as follows: LVNC with congenital heart defects, arrhythmia, dilated phenotype, or normal function. In the enrolled patients, 182 genes associated with cardiomyopathy were screened using next-generation sequencing. Results: We identified 99 pathogenic variants in 40 genes in 87 patients. Of the pathogenic variants, 8.8% were in genes associated with channelopathies, 27% were in sarcomere genes, and 11.5% were in mitochondrial genes. Ion channel gene variants were mostly associated with the arrhythmia classification, whereas sarcomere and mitochondrial gene variants were associated with the dilated phenotype. Echocardiography revealed that the group with ion channel gene variants had almost normal LV ejection fraction and LV diastolic diameter Z scores. Fragmented QRS, old age, and an arrhythmia phenotype were the most significant risk factors for ventricular tachycardia ( P =0.165, 0.0428, and 0.0074, respectively). Moreover, the group with ion channel variants exhibited a greater risk of a higher prevalence of arrhythmias such as ventricular tachycardia, rather than congestive heart failure. Conclusions: This is the first study that focused on genotype-phenotype correlations in a large pediatric LVNC patient cohort with ion channel gene variants that were determined using next-generation sequencing. Ion channel gene variants were strongly correlated with arrhythmia phenotypes. Genetic testing and phenotype specification allow for appropriate medical management of specific LVNC targets.

scholarly journals Increased Plasma Incretin Concentrations Identifies a Subset of Patients with Persistent Congenital Hyperinsulinism without KATP Channel Gene Defects

2015 ◽  
Vol 166 (1) ◽  
pp. 191-194 ◽  
Author(s):  
Yanqin Shi ◽  
Hima B. Avatapalle ◽  
Mars S. Skae ◽  
Raja Padidela ◽  
Melanie Newbould ◽  
...  
Keyword(s):  
Katp Channel ◽  
Congenital Hyperinsulinism ◽  
Channel Gene ◽  
Gene Defects

scholarly journals Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time

2016 ◽  
Vol 11 (1) ◽  
Author(s):  
Maria Salomon-Estebanez ◽  
Sarah E. Flanagan ◽  
Sian Ellard ◽  
Lindsey Rigby ◽  
Louise Bowden ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Congenital Hyperinsulinism ◽  
Channel Gene ◽  
Over Time
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