Results 11 to 20 of about 73,517 (254)

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   +5 more sources

Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease [PDF]

Journal of Molecular and Cellular Cardiology, 2008
Mutations in the lamin A/C (LMNA) gene, which encodes nuclear membrane proteins, cause a variety of human conditions including dilated cardiomyopathy (DCM) with associated cardiac conduction system disease. To investigate mechanisms responsible for electrophysiologic and myocardial phenotypes caused by dominant human LMNA mutations, we performed ...
Cordula M, Wolf, Libin, Wang, Ronny, Alcalai, Anne, Pizard, Patrick G, Burgon, Ferhaan, Ahmad, Megan, Sherwood, Dorothy M, Branco, Hiroko, Wakimoto, Glenn I, Fishman, Vincent, See, Colin L, Stewart, David A, Conner, Charles I, Berul, Christine E, Seidman, J G, Seidman   +15 more
openaire   +4 more sources

Engineering a conduction-consistent cardiac patch with rGO/PLCL electrospun nanofibrous membranes and human iPSC-derived cardiomyocytes

Frontiers in Bioengineering and Biotechnology, 2023
The healthy human heart has special directional arrangement of cardiomyocytes and a unique electrical conduction system, which is critical for the maintenance of effective contractions.
Yao Tan, Ying Chen, Tingting Lu, Nevin Witman, Bingqian Yan, Yiqi Gong, Xuefeng Ai, Li Yang, Li Yang, Minglu Liu, Runjiao Luo, Huijing Wang, Stefano Ministrini, Stefano Ministrini, Wei Dong, Wei Wang, Wei Fu, Wei Fu   +17 more
doaj   +1 more source

Rare SCN10A variants associated with cardiac conduction system diseases [PDF]

European Heart Journal, 2020
Abstract Background The genetic bases of cardiac conduction-system disease (CCSD) range from ion channelopathies to mutations in many other genes. Genome-wide association studies have shown common variants in SCN10A influence cardiac conduction.
K Hayashi, N Fujino, H Furusho, S Usui, K Sakata, T Kato, T Tsuda, S Niwa, K Takeuchi, M Kawashiri, M Takamura   +10 more
openaire   +1 more source

Desmin variants: Trigger for cardiac arrhythmias?

Frontiers in Cell and Developmental Biology, 2022
Desmin (DES) is a classical type III intermediate filament protein encoded by the DES gene. Desmin is abundantly expressed in cardiac, skeletal, and smooth muscle cells.
Wei Su, Wei Su, Stan W. van Wijk, Stan W. van Wijk, Bianca J. J. M. Brundel, Bianca J. J. M. Brundel   +5 more
doaj   +1 more source

A Case of Complete AV Blockade in Patient with Lyme Borreliosis

Архивъ внутренней медицины, 2022
Lyme disease (tick-borne borreliosis) is an infectious vector-borne natural focal disease that tends to a chronic and recurrent course with a predominant damage to the skin, nervous system, musculoskeletal system and heart. Cardiac features is manifested,
O. N. Denisov, E. V. Efremova, A. A. Nafeev   +2 more
doaj   +1 more source

Revolutionizing cardiovascular medicine: targeted therapies for the cardiac conduction system

The Journal of Clinical Investigation, 2022
Arrhythmogenic cardiovascular disorders are associated with considerable morbidity and mortality. Whether cardiac conduction disease is caused by genetic defects, procedural perturbations, valvular disease, ischemia, aging, or heart failure, new ...
Daniel J. Garry, Demetris Yannopoulos, Tamas Alexy   +2 more
doaj   +1 more source

An unusual ‘bow tie’ image in pacemaker implantation

Indian Pacing and Electrophysiology Journal, 2022
Upper venous system anatomic variations may cause difficulties during cardiac pacemaker implantation. Persistent left superior vena cava (PLSVC) and absent right superior vena cava could be an arrhythmogenic source of atrial arrhythmias and cardiac ...
Oguzhan Ekrem Turan, Resit Yigit Yilancioglu, Ahmet Anil Baskurt, Emin Evren Ozcan   +3 more
doaj   +1 more source

Cardiac conduction system- A detailed study in 46 cases of sudden death

Journal of Pathology of Nepal, 2015
Background: Atherosclerotic coronary artery disease is the modern pandemic and is said to be responsible for a major chunk of sudden cardiac deaths. However, in few cases; especially among the young, conduction system abnormalities were found to be the ...
LM Ilias, MR Pai, S Shukla, A Ponniah, K Gautam, P Vijayan   +5 more
doaj   +1 more source

Left bundle branch pacing: An evolving site for physiological pacing

Journal of Arrhythmia, 2021
For patients with symptomatic bradyarrhythmia, cardiac pacing is the only appropriate treatment option. Electrical and mechanical dyssynchrony caused by traditional right ventricular apical pacing leads to left ventricular dysfunction and atrial ...
Eka P. B. Mulia, Muhammad R. Amadis, Rerdin Julario, Budi B. Dharmadjati   +3 more
doaj   +1 more source