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Condition: Cardiomyopathy
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Total 870 results found since Jan 2013.
A Case of Chronic Heart Failure Complicated by Primary Biliary Cholangitis and Skeletal Myopathy
We report a case of a 58-year-old man with decompensated heart failure who also had PBC and skeletal inflammatory myopathy. Endomyocardial biopsy revealed severe fibrotic replacement of the myocardium without massive inflammatory infiltration, which was pathologically similar to what happens in dilated cardiomyopathy (DCM). Although the potential relationship between chronic autoimmune inflammation and DCM has been discussed, the concept of the inflammatory DCM has not yet been established. When we see elevated liver enzymes, and which is not simply due to congestive hepatopathy, we should consider the coexisting disease s...
Source: International Heart Journal - September 14, 2022 Category: Cardiology Authors: Shinya Fujisaki Keiichi Tsuchida Yuka Sekiya Norihito Oyanagi Hiroki Tsuchiya Kenji Nakano Yuka Hayashi Komei Tanaka Yukio Hosaka Kazuyoshi Takahashi Hirotaka Oda Source Type: research
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood
FLNC is one of the few genes associated with all types of cardiomyopathies, but it also underlies neuromuscular phenotype. The combination of concomitant neuromuscular and cardiac involvement is not often observe...
Source: Orphanet Journal of Rare Diseases - September 14, 2022 Category: Internal Medicine Authors: A. Muravyev, T. Vershinina, P. Tesner, G. Sjoberg, Yu. Fomicheva, N. Nov ák Čajbiková, A. Kozyreva, S. Zhuk, E. Mamaeva, S. Tarnovskaya, J. Jornholt, P. Sokolnikova, T. Pervunina, E. Vasichkina, T. Sejersen and A. Kostareva Tags: Research Source Type: research
Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review
This study reports a case of BAG3-related myopathy without cardiac involvement and further confirmed the wide phenotypic spectrum of BAG3-related myopathy.
Source: Journal of Clinical Neuromuscular Disease - September 1, 2022 Category: Neurology Tags: Case Review Source Type: research
Genes, Vol. 13, Pages 1427: An EHPB1L1 Nonsense Mutation Associated with Congenital Dyserythropoietic Anemia and Polymyopathy in Labrador Retriever Littermates
This report, along with an independent study conducted by another group, are the first reports of an association of EHBP1L1 mutations with congenital dyserythropoietic anemia and polymyopathy.
Source: Genes - August 11, 2022 Category: Genetics & Stem Cells Authors: G. Diane Shelton Katie M. Minor Ling T. Guo Alison Thomas-Hollands Koranda A. Walsh Steven G. Friedenberg Jonah N. Cullen James R. Mickelson Tags: Article Source Type: research
Sleep disorders in McLeod syndrome: A case series
McLeod syndrome is a very rare X-linked recessive neurodegenerative disorder characterized by a spectrum of neurological and systemic symptoms and is estimated at 1 in10 million cases. In addition to various movement disorders, such as chorea, dystonia, parkinsonism, and tics, symptoms can include myopathy, neuropathy, cardiomyopathy, epilepsy, and cognitive and psychiatric symptoms. Laboratory findings in McLeod syndrome include acanthocytosis on peripheral blood smear, elevated creatine kinase and liver enzymes, and absent Kx antigen presentation and decreased Kell antigens on erythrocyte membranes [1].
Source: Parkinsonism and Related Disorders - August 9, 2022 Category: Neurology Authors: Miranda M. Lim, Harini Sarva, Amie Hiller, Scott Feitell, Patricia Oates, Daniel Barone, Ruth H. Walker Tags: Correspondence Source Type: research
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease
This article is protected by copyright. All rights reserved.PMID:35932216 | DOI:10.1111/cge.14208
Source: Clinical Genetics - August 6, 2022 Category: Genetics & Stem Cells Authors: Sara Nagy Tracy Lau Shahryar Alavi Ehsan Ghayoor Karimiani Jalal Vallian Bobby G Ng Samaneh Noroozi Asl Javad Akhondian Amir Bahreini Omid Yaghini Prech Uapinyoying Carsten Bonnemann Hudson H Freeze Vajira H W Dissanayake Nirmala D Sirisena Miriam Schmidt Source Type: research
