Results 21 to 30 of about 464 (205)

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]

Cardiovascular Research, 2020
Abstract Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Kenshi Hayashi, Ryota Teramoto, Akihiro Nomura, Yoshihiro Asano, Manu Beerens, Yasutaka Kurata, Isao Kobayashi, Noboru Fujino, Hiroshi Furusho, Kenji Sakata, Kenji Onoue, David Y Chiang, Tuomas O Kiviniemi, Eva Buys, Patrick Sips, Micah L Burch, Yanbin Zhao, Amy E Kelly, Masanobu Namura, Yoshihito Kita, Taketsugu Tsuchiya, Bunji Kaku, Kotaro Oe, Yuko Takeda, Tetsuo Konno, Masaru Inoue, Takashi Fujita, Takeshi Kato, Akira Funada, Hayato Tada, Akihiko Hodatsu, Chiaki Nakanishi, Yuichiro Sakamoto, Toyonobu Tsuda, Yoji Nagata, Yoshihiro Tanaka, Hirofumi Okada, Keisuke Usuda, Shihe Cui, Yoshihiko Saito, Calum A MacRae, Seiji Takashima, Masakazu Yamagishi, Masa-aki Kawashiri, Masayuki Takamura   +44 more
openaire   +3 more sources

Cardiac hypertrophy, accessory pathway, and conduction system disease in an adolescent: the PRKAG2 cardiac syndrome.

Journal of the American College of Cardiology, 2013
We present the case of PRKAG2 cardiac syndrome, a rare autosomal-dominant genetic disease characterized by peculiar clinical and electrophysiological abnormalities. We clearly show through the images the peculiar clinical features that should raise suspicion of a mutant PRKAG2 gene. Indeed, together with an accurate clinical and instrumental evaluation,
Fabris E, Brun F, Porto AG, Losurdo P, Vitali Serdoz L, Zecchin M, Severini GM, Mestroni L, Di Chiara A, SINAGRA, GIANFRANCO   +9 more
openaire   +4 more sources

Rapidly Progressive Cardiac Manifestation of Behçet's Disease Involving Conduction System and Aortic Valve [PDF]

Journal of Cardiovascular Ultrasound, 2011
Cardiac conduction system impairment is a rare clinical manifestation of Behçet's disease. We report a patient who showed 1st degree atrioventricular block at first presentation, and showed aggravated finding of 3rd degree atrioventricular block on five months later.
Yu, Jin Sok, Cho, Eun Joo, Ji, Eun Hye, Kwon, Hee Sun, Kim, Jin Seok, Choi, Kyu Young, Kwon, Beom June, Kim, Dong Bin, Jang, Seong Won, Kim, Jae Hyung   +9 more
openaire   +2 more sources

High resolution 3-Dimensional imaging of the human cardiac conduction system from microanatomy to mathematical modeling

Scientific Reports, 2017
Cardiac arrhythmias and conduction disturbances are accompanied by structural remodelling of the specialised cardiomyocytes known collectively as the cardiac conduction system.
Robert S. Stephenson, Andrew Atkinson, Petros Kottas, Filip Perde, Fatemeh Jafarzadeh, Mike Bateman, Paul A. Iaizzo, Jichao Zhao, Henggui Zhang, Robert H. Anderson, Jonathan C. Jarvis, Halina Dobrzynski   +11 more
doaj   +1 more source

Predictive factors of atrioventricular conduction disorders [PDF]

Romanian Medical Journal
Atrioventricular conduction disorders represent an alteration in the normal function of the heart’s electrical conduction system, a system that connects the atria and ventricles through the atrio-ventricular node and the His-Purkinje system. Consequently,
Carmen Marina Deutsch, Elisabeta Badila, Adriana Iliesiu   +2 more
doaj   +1 more source

Left bundle branch–optimized cardiac resynchronization therapy: Pursuing the optimal resynchronization in severe (distal) conduction system disease [PDF]

HeartRhythm Case Reports, 2023
Contains fulltext : 294265.pdf (Publisher’s version ) (Open Access)
Jesse Rijks, Justin Luermans, Kevin Vernooy   +2 more
openaire   +2 more sources

An uncommon case of complete AV block

BMC Cardiovascular Disorders, 2022
Background Granulomatosis with polyangiitis (GPA) is a rare systemic inflammatory disorder characterized by vasculitis of the small vessels, as well as necrotizing granulomatous lesions, affecting mainly upper and lower respiratory tracts, lungs and ...
Federica Valente, Lionel Rozen, Stéphane Carlier, Pascal Godart   +3 more
doaj   +1 more source

Limited effects of long-term enzyme replacement therapy on the cardiac conduction system in Fabry disease [PDF]

Journal of Cardiology Cases, 2018
The long-term effects of enzyme replacement therapy (ERT) on cardiac function and the conduction system in Fabry disease are not clearly understood. We report a case of a 48-year-old man with non-classical Fabry disease treated with ERT for 11 years.
Tomoya, Kaneda, Masahiro, Takeda, Tetsuro, Suematsu, Ryusuke, Yamamoto, Mutsuko, Takata, Toshinori, Higashikata, Hidekazu, Ino, Akihiko, Tsujibata, Kenshi, Hayashi, Noboru, Fujino, Masa-Aki, Kawashiri   +10 more
openaire   +2 more sources

Sensitivity and Specificity of Cardiac Tissue Discrimination Using Fiber-Optics Confocal Microscopy. [PDF]

PLoS ONE, 2016
Disturbances of the cardiac conduction system constitute a major risk after surgical repair of complex cases of congenital heart disease. Intraoperative identification of the conduction system may reduce the incidence of these disturbances. We previously
Chao Huang, Frank B Sachse, Robert W Hitchcock, Aditya K Kaza   +3 more
doaj   +1 more source

An unusual reason for complete atrioventricular block ; Kearn Sayre Syndrome

Medicine Science, 2016
Kearn sayre syndrome (KSS) is a rare disease with a typical onset before 20 years and charactarized by triad of chronic progressive external ophthalmoplegia, retinitis pigmentosa and progressive cardiac conduction abnormalities.
Halil Atas, Fuad Samadov, Osman Yesildag
doaj   +1 more source