Výsledky vyhledávání - "Left Ventricular Non-Compaction Cardiomyopathy"

Akademický článek

Desmoplakin and features of desmoplakin cardiomyopathy

Autor: R. P. Myasnikov, N. N. Kuzina, D. A. Nefedova, A. V. Kiseleva, O. V. Kulikova, A. N. Meshkov, M. M. Kudryavtseva, E. A. Mershina, M. g. Divashuk, E. V. Ryzhkova, M. S. Kharlap, O. M. Drapkina

Publikováno v: Российский кардиологический журнал, Vol 28, Iss 11 (2023)

Inherited cardiomyopathies (CMP) are a group of heterogeneous diseases characterized by myocardial disorders that is not caused by coronary artery disease, hypertension, valvular and congenital defects. With the development of imaging methods and mol

Externí odkaz: https://doaj.org/article/edf30b19433b45eba60ff5615a6f1553

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Akademický článek

Case Report: Challenges in the etiology of left ventricular aneurysm [version 1; peer review: 1 approved, 2 approved with reservations]

Autor: José Castro Rodriguez, Nasroolla Damry, Marielle Morissens, Georgiana Pintea Bentea, Brahim Berdaoui, El Mehdi Channan

Publikováno v: F1000Research, Vol 12 (2023)

Left ventricular aneurysms are outpouchings delineated by a thin myocardial wall, more frequently encountered at the apex of the left ventricle, which is seldom dyskinetic or akinetic. Apart from coronary artery disease, the etiology can be challengi

Externí odkaz: https://doaj.org/article/116f4b68a7054e3392bfb9fd35f55575

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Akademický článek

Characteristics and long‐term survival of patients with left ventricular non‐compaction cardiomyopathy

Autor: Emre Demir, Selen Bayraktaroğlu, Akın Çinkooğlu, Aytaç Candemir, Yeşim B. Candemir, Rıza O. Öztürk, Ömer F. Dadaş, Mehmet N. Orman, Mehdi Zoghi, Azem Akıllı, Naim Ceylan, Cemil Gürgün, Sanem Nalbantgil

Publikováno v: ESC Heart Failure, Vol 9, Iss 6, Pp 4219-4229 (2022)

Abstract Aims Left ventricular non‐compaction cardiomyopathy (LVNC) is a poorly understood entity resulting in heart failure. Whether it is a distinct form of cardiomyopathy or an anatomical phenotype is a subject of discussion. The current diagnos

Externí odkaz: https://doaj.org/article/ba906689f99d4274a414d9204d951c19

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Akademický článek

Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation

Autor: Jing Zhang, Xiu Han, Qun Lu, Yunfei Feng, Aiqun Ma, Tingzhong Wang

Publikováno v: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-8 (2022)

Abstract Left ventricular non-compaction cardiomyopathy (LVNC) is one of the most common inherited cardiovascular diseases. The genetic backgrounds of most LVNC patients are not fully understood. We collected clinical data, family histories, and bloo

Externí odkaz: https://doaj.org/article/aa939fbe7d2f46a3b045018bbde302c7

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Akademický článek

Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder

Autor: Karin Writzl, Blaž Mavčič, Aleš Maver, Alenka Hodžić, Borut Peterlin

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

The NONO gene encodes a nuclear protein involved in transcriptional regulation, RNA synthesis and DNA repair. Hemizygous loss-of function, de novo or maternally inherited variants in NONO have been associated with an X-linked syndromic intellectual d

Externí odkaz: https://doaj.org/article/4ab6b85b98854cf0999fa931ad3fe0c7

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Akademický článek

MRI aspects of left ventricular non compaction (LVNC): About 3 cases from Sub-Saharan Africa and review of the literature

Autor: Abdoulaye Toure, PhD, Debato Tina Gnaoulé, PhD, Ahoury Judicael, PhD, Ange Patrick Ndja, PhD, Ange Eric Zouzou, PhD, Anicet Le Dion, PhD, Nguessan Ebeyss Fatto, PhD, Gogoua Casimir Gbazi, PhD

Publikováno v: Radiology Case Reports, Vol 17, Iss 4, Pp 1068-1075 (2022)

Left ventricular non compaction (LVNC) is a relatively rare variety of cardiomyopathy of genetic origin.We report three cases of LVNC diagnosed on cardiac magnetic resonance imaging (MRI) in Abidjan in patients aged 42, 46 and 60 years, referred for

Externí odkaz: https://doaj.org/article/5a640f208d6e47b181f7857eb0856e95

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Akademický článek

Whole‐exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non‐compaction cardiomyopathy

Autor: Qiqing Sun, Jun Guo, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Yuanying Chen, Weili Yang, Wei Li, Yingjun Feng

Publikováno v: Pediatric Investigation, Vol 4, Iss 1, Pp 11-16 (2020)

Abstract Importance Pathogenic variants in the RBM20 gene are associated with aggressive dilated cardiomyopathy (DCM). Recently, RBM20 was found to be associated with left ventricular non‐compaction cardiomyopathy (LVNC). Thus far, only five famili

Externí odkaz: https://doaj.org/article/d7815da487cd48cd8facc8139eb16024

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Akademický článek

DES GENE MUTATION IN A FAMILY OF PROBAND WITH MYOFIBRILLARY MYOPATHY AND NON-COMPACTION CARDIOMYOPATHY, RESULTED IN CARDIAC TRANSPLANTATION

Autor: R. P. Myasnikov, N. V. Shcherbakova, О. V. Kulikova, А. N. Meshkov, M. S. Kharlap, А. V. Kiseleva, А. А. Zharikova, Е. L. Dadali, N. A. Semenova, S. N. Koretsky, О. V. Blagova, Е. А. Mershina, V. Е. Sinitsyn, О. М. Drapkina, S. А. Boytsov

Publikováno v: Российский кардиологический журнал, Vol 0, Iss 10, Pp 9-16 (2017)

Aim. To perform clinical and instrumental examination and genetic testing using the method of exome sequencing of proband and his relatives of 1 and 2 degrees of kinship with myofibrillary myopathy and non-compaction cardiomyopathy.Material and metho

Externí odkaz: https://doaj.org/article/e4bad4198f9d42bf8ea224afce89bddf

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