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Sodium channel haploinsufficiency and structural change in ventricular arrhythmogenesis.
Jeevaratnam K, Guzadhur L, Goh YM, Grace AA, Huang CL. Jeevaratnam K, et al. Acta Physiol (Oxf). 2016 Feb;216(2):186-202. doi: 10.1111/apha.12577. Epub 2015 Sep 24. Acta Physiol (Oxf). 2016. PMID: 26284956 Review.
Of these conditions, Brugada syndrome (BrS) and progressive cardiac conduction defect (PCCD) are associated with sudden, often fatal, ventricular tachycardia (VT) or fibrillation. ...
Of these conditions, Brugada syndrome (BrS) and progressive cardiac conduction defect (PCCD) are associated with …
Structure of full-length human TRPM4.
Duan J, Li Z, Li J, Santa-Cruz A, Sanchez-Martinez S, Zhang J, Clapham DE. Duan J, et al. Proc Natl Acad Sci U S A. 2018 Mar 6;115(10):2377-2382. doi: 10.1073/pnas.1722038115. Epub 2018 Feb 20. Proc Natl Acad Sci U S A. 2018. PMID: 29463718 Free PMC article.
Mutations in human TRPM4 (hTRPM4) result in progressive familial heart block. Here, we report the electron cryomicroscopy structure of hTRPM4 in a closed, Na(+)-bound, apo state at pH 7.5 to an overall resolution of 3.7 A. ...
Mutations in human TRPM4 (hTRPM4) result in progressive familial heart block. Here, we report the electron cryom …
Desmin-related myopathy characterized by non-compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection.
Tamiya R, Saito Y, Fukamachi D, Nagashima K, Aizawa Y, Ohkubo K, Hatta T, Sezai A, Tanaka M, Ishikawa T, Makita N, Sumitomo N, Okumura Y. Tamiya R, et al. ESC Heart Fail. 2020 Jun;7(3):1338-1343. doi: 10.1002/ehf2.12667. Epub 2020 Mar 6. ESC Heart Fail. 2020. PMID: 32142595 Free PMC article.
Herein, we report the first case of DRM with the de novo missense DES mutation, R454W, that is characterized by left ventricular non-compaction cardiomyopathy, progressive cardiac conduction defect, spontaneous coronary artery dissection, and no skelet …
Herein, we report the first case of DRM with the de novo missense DES mutation, R454W, that is characterized by left ventricular non-compact …
In silico analysis of TRPM4 variants of unknown clinical significance.
Tarnovskaya SI, Kostareva AA, Zhorov BS. Tarnovskaya SI, et al. PLoS One. 2023 Dec 15;18(12):e0295974. doi: 10.1371/journal.pone.0295974. eCollection 2023. PLoS One. 2023. PMID: 38100498 Free PMC article.
Genetic variants of the channel in cardiomyocytes are associated with various heart disorders, such as progressive familial heart block and Brugada syndrome. About97% of all known TRPM4 missense variants are classified as variants of unknown clinical s …
Genetic variants of the channel in cardiomyocytes are associated with various heart disorders, such as progressive familial …
A newly identified missense mutation in CLCA2 is associated with autosomal dominant cardiac conduction block.
Mao Z, Wang Y, Peng H, He F, Zhu L, Huang H, Huang X, Lu X, Tan X. Mao Z, et al. Gene. 2019 Sep 25;714:143990. doi: 10.1016/j.gene.2019.143990. Epub 2019 Jul 18. Gene. 2019. PMID: 31326550
BACKGROUND: Progressive cardiac conduction defect (PCCD), also known as Lenegre-Lev disease, is one of the most common heart conduction abnormalities. ...
BACKGROUND: Progressive cardiac conduction defect (PCCD), also known as Lenegre-Lev disease, is one of the most …
Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.
Daumy X, Amarouch MY, Lindenbaum P, Bonnaud S, Charpentier E, Bianchi B, Nafzger S, Baron E, Fouchard S, Thollet A, Kyndt F, Barc J, Le Scouarnec S, Makita N, Le Marec H, Dina C, Gourraud JB, Probst V, Abriel H, Redon R, Schott JJ. Daumy X, et al. Int J Cardiol. 2016 Mar 15;207:349-58. doi: 10.1016/j.ijcard.2016.01.052. Epub 2016 Jan 11. Int J Cardiol. 2016. PMID: 26820365
It reports the third largest pedigree diagnosed with isolated Progressive Familial Heart Block type I and confirms that this subtype of PCCD is caused by mutation-induced gain-of-expression and function of the TRPM4 ion channel....
It reports the third largest pedigree diagnosed with isolated Progressive Familial Heart Block type I and confir …
Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction.
Ishikawa T, Mishima H, Barc J, Takahashi MP, Hirono K, Terada S, Kowase S, Sato T, Mukai Y, Yui Y, Ohkubo K, Kimoto H, Watanabe H, Hata Y, Aiba T, Ohno S, Chishaki A, Shimizu W, Horie M, Ichida F, Nogami A, Yoshiura KI, Schott JJ, Makita N. Ishikawa T, et al. Circ Arrhythm Electrophysiol. 2020 Oct;13(10):e008712. doi: 10.1161/CIRCEP.120.008712. Epub 2020 Jul 29. Circ Arrhythm Electrophysiol. 2020. PMID: 32755394
METHODS: Targeted exon sequencing was performed in 87 probands with familial sick sinus syndrome (n=36) and a progressive cardiac conduction defect (n=51). RESULTS: We identified 3 X-linked recessive EMD mutations (start-loss, splicing, missense) in fa …
METHODS: Targeted exon sequencing was performed in 87 probands with familial sick sinus syndrome (n=36) and a progressive cardiac …
Lev's Syndrome: A rare case of progressive cardiac conduction disorder presenting to the emergency department.
Carius BM, Long B, Schauer S. Carius BM, et al. Am J Emerg Med. 2019 May;37(5):1006.e1-1006.e4. doi: 10.1016/j.ajem.2019.01.054. Epub 2019 Jan 31. Am J Emerg Med. 2019. PMID: 30723001
Lev's Syndrome is a rare, progressive cardiac conduction defect (PCCD) due to myocardial fibrosis first described by Maurice Lev in 1964. ...
Lev's Syndrome is a rare, progressive cardiac conduction defect (PCCD) due to myocardial fibrosis first describe …
Whole exome sequencing identified a pathogenic nonsense mutation in LMNA in a family with a progressive cardiac conduction defect: A case report.
Fan P, Zhang D, Yang KQ, Tian T, Luo F, Liu YX, Wang LP, Zhou XL. Fan P, et al. Mol Med Rep. 2020 Jun;21(6):2459-2465. doi: 10.3892/mmr.2020.11048. Epub 2020 Apr 1. Mol Med Rep. 2020. PMID: 32323820 Free PMC article.
Progressive cardiac conduction defect (PCCD) is an inherited autosomal dominant cardiac disorder characterized by an age-dependent cardiac electrical conduction block. ...
Progressive cardiac conduction defect (PCCD) is an inherited autosomal dominant cardiac disorder characterized b …
A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.
Tao J, Duan J, Pi X, Wang H, Li S. Tao J, et al. J Clin Lab Anal. 2021 Apr;35(4):e23736. doi: 10.1002/jcla.23736. Epub 2021 Feb 24. J Clin Lab Anal. 2021. PMID: 33626194 Free PMC article.
A novel de novo heterozygous LMNA splice variant (c.810+1G>T) with dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy, and progressive cardiac conduction defect was identified by genetic analysis. The patient also presented with congenital ao …
A novel de novo heterozygous LMNA splice variant (c.810+1G>T) with dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy, and prog …
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