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   Articles with "progressive cardiac" as a keyword



Prenatal sonographic monitoring of progressive cardiac damages caused by anti‐Ro antibodies: A case report

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recommendations! Published in 2018 at "Journal of Clinical Ultrasound"

DOI: 10.1002/jcu.22541

Abstract: Maternal autoantibodies to Ro/SSA are often linked to congenital heart block and rarely associated with structural defects. We describe the case of a fetus with anti‐Ro‐mediated second‐degree block at 19 weeks, which progressed to a… read more here.

Keywords: progressive cardiac; monitoring progressive; case; cardiac damages ... See more keywords

Preprodynorphin gene mutation causes progressive cardiac conduction disease: A whole‐exome analysis of a pedigree

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recommendations! Published in 2019 at "Life Sciences"

DOI: 10.1016/j.lfs.2018.12.062

Abstract: Aims: Progressive cardiac conduction disease (PCCD) is a rare heart disease that usually shows familial inheritance. Potential genetic risk factors for PCCD have been mostly limited to genes that encode ion channels, cardiac transcription factors,… read more here.

Keywords: cardiac conduction; progressive cardiac; conduction disease; disease ... See more keywords

Generation of two iPSC lines (FAMRCi004-A and FAMRCi004-B) from patient with familial progressive cardiac conduction disorder carrying genetic variant DSP p.His1684Arg.

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recommendations! Published in 2020 at "Stem cell research"

DOI: 10.1016/j.scr.2020.101720

Abstract: Human iPSC cell lines (FAMRCi004-A and FAMRCi004-B) were generated from patient with progressive cardiac conduction disease and sick sinus syndrome carrying DSP p.His1684Arg genetic variant. Patient-specific adipose tissue-derived mesenchymal multipotent stromal cells were reprogrammed using… read more here.

Keywords: cardiac conduction; progressive cardiac; lines famrci004; famrci004 famrci004 ... See more keywords

Case Report: Loss-of-function TRPM4 mutation p.L91Δ implicated in progressive cardiac conduction defect

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recommendations! Published in 2025 at "Frontiers in Physiology"

DOI: 10.3389/fphys.2025.1681438

Abstract: Background The calcium-activated non-specific cation channel TRPM4 mediates membrane depolarization in many cell types, including cardiomyocytes and Purkinje cells. Rare genetic alterations in the TRPM4 gene can cause familial cases of progressive cardiac conduction defects… read more here.

Keywords: progressive cardiac; l91; trpm4; loss function ... See more keywords