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Condition: Cardiomyopathy
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Total 17 results found since Jan 2013.

Genes, Vol. 14, Pages 1539: Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation & mdash;Case Report and Review of the Literature
This report describes a 42-year-old father and his 3-year-old daughter presenting with mild manifestations of the disease. The father has normal intellectual development and normal physical activity. At the age of 13, he was diagnosed with mild ventricular pre-excitation known as Wolf–Parkinson–White syndrome (WPWs), very mild and mostly asymptomatic cardiomyopathy and left ventricular hypertrophy, and at about the age of 25 presented with visual impairment due to cone–rod dystrophy. His daughter showed normal development and very mild asymptomatic electrocardiographic WPWs abnorma...
Source: Genes - July 27, 2023 Category: Genetics & Stem Cells Authors: Adel Shalata Marina Bar-Shai Yarin Hadid Muhammad Mahroum Hila Mintz Zaher Eldin Shalata Evgeny Radzishevsky Jacob Genizi Avraham Lorber Tamar Ben-Yosef Liat Yaniv Tags: Article Source Type: research

The association between C-peptide and atrial cardiomyopathy in nondiabetic adults: results from NHANES III
AbstractSerum C-peptide exhibits various biological activities. The relationship between C-peptide and atrial cardiomyopathy remains unknown. We aimed to investigate the association between C-peptide level and atrial cardiomyopathy in nondiabetic adults. Our study enrolled 4578 participants without diagnosed diabetes from the Third National Health and Nutrition Examination Survey (NHANES III). Atrial cardiomyopathy was defined as a deep terminal negative P wave in V1 below − 100 µV (more negative), according to the electrocardiogram. The participants were categorized into low C-peptide (≤ 1.46 nmol/L) and high C-...
Source: Heart and Vessels - July 15, 2023 Category: Cardiology Source Type: research

Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome
AbstractBarth Syndrome (BTHS) is an X-linked mitochondrial cardioskeletal myopathy caused by defects inTAFAZZIN, a gene responsible for cardiolipin remodeling. Altered mitochondrial levels of cardiolipin lead to cardiomyopathy (CM), muscle weakness, exercise intolerance, and mortality. Cardiac risk factors predicting outcome are unknown. Therefore, we conducted a longitudinal observational study to determine risk factors for outcome in BTHS. Subjects with minimum two evaluations (or one followed by death or transplant) were included. Cardiac size, function, and QTc data were measured by echocardiography and electrocardiogr...
Source: Pediatric Cardiology - March 3, 2022 Category: Cardiology Source Type: research

Clinical and molecular characterization of seven patients with Danon disease
Exp Ther Med. 2021 Apr;21(4):395. doi: 10.3892/etm.2021.9826. Epub 2021 Feb 24.ABSTRACTDanon disease is an X-linked glycogen storage disease characterized by skeletal myopathy, cardiomyopathy and intellectual impairment. It is caused by a loss-of-function mutation in the lysosome-associated membrane protein-2 (LAMP2) gene. In the present study, exon and boarding intron analysis of 96 cardio disease-associated genes was performed in 770 patients with hypertrophic cardiomyopathy (HCM) using second-generation sequencing. Next, the identified mutations were confirmed in family members of the patients and 300 healthy controls. ...
Source: Experimental and Therapeutic Medicine - March 8, 2021 Category: General Medicine Authors: Xuan-Ying Wang Bo Wang Xiao-Li Zhu Zhi-Ling Ma Ying Liu Chang-Hui Lei Qian-Li Yang Dan Hu Xue-Li Zhao Zhi-Rong Liu Li-Wen Liu Source Type: research

Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging.
We present a case of a patient with MM incidentally diagnosed with concomitant cardiomyopathy. PMID: 33518658 [PubMed - in process]
Source: International Heart Journal - February 2, 2021 Category: Cardiology Tags: Int Heart J Source Type: research

Safety management in treatment with antimalarials in rheumatology. Interdisciplinary recommendations on the basis of a  systematic literature review.
CONCLUSION: The updated recommendations on AM treatment in rheumatology in particular include a more rigorous measuring of doses, risk stratification in monitoring and defined ophthalmological examination methods to detect a possible retinopathy. PMID: 32236844 [PubMed - as supplied by publisher]
Source: Zeitschrift fur Rheumatologie - March 30, 2020 Category: Rheumatology Authors: Fiehn C, Ness T, Weseloh C, Specker C, Hadjiski D, Detert J, Krüger K, DGRh Kommission Pharmakotherapie Tags: Z Rheumatol Source Type: research

Safety management of the treatment with antimalarial drugs in rheumatology. Interdisciplinary recommendations based on a  systematic literature search.
CONCLUSION: The updated recommendations on AM treatment in rheumatology in particular include a more rigorous measuring of doses, risk stratification in monitoring and defined ophthalmological examination methods to detect a possible retinopathy. PMID: 32095892 [PubMed - as supplied by publisher]
Source: Zeitschrift fur Rheumatologie - February 23, 2020 Category: Rheumatology Authors: Fiehn C, Ness T, Weseloh C, Specker C, Hadjiski D, Detert J, Krüger K, Kommission Pharmakotherapie der DGRh Tags: Z Rheumatol Source Type: research

Danon disease: Two patients with atrial fibrillation in a single family and review of the literature.
Authors: Guo S, Zhou L, Wang R, Lv Z, Xu H, Han B, Korantzopoulos P, Hu F, Liu T Abstract The present study reports on a family with two members affected by Danon disease but having different phenotypes. The clinical manifestations of Danon disease include cardiomyopathy, skeletal myopathy and different degrees of intellectual disability that varies greatly among patients. The present case study reports on two siblings, an older sister and a younger brother, with Danon disease from an affected pedigree, presenting with distinctly different phenotypes. The sister was diagnosed with dilated cardiomyopathy at the age ...
Source: Experimental and Therapeutic Medicine - August 16, 2019 Category: General Medicine Tags: Exp Ther Med Source Type: research

Genome-wide Association Study of Susceptibility to Particulate Matter –Associated QT Prolongation
Conclusions: The findings suggest that biologically plausible genetic factors may alter susceptibility to PM10-associated QT prolongation in populations protected by the U.S. Environmental Protection Agency’s National Ambient Air Quality Standards. Independent replication and functional characterization are necessary to validate our findings. https://doi.org/10.1289/EHP347 Received: 11 April 2016 Revised: 07 September 2016 Accepted: 19 September 2016 Published: 08 June 2017 Address correspondence to R. Gondalia, Department of Epidemiology, University of North Carolina, 137 E. Franklin St., Chapel Hill, NC 27514. Te...
Source: EHP Research - June 8, 2017 Category: Environmental Health Authors: Daniil Lyalko Tags: Research Source Type: research

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
ConclusionsTruncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death. Prompt implantation of a cardiac defibrillator should be considered in affected patients harboring truncating mutations in FLNC.
Source: Journal of the American College of Cardiology - November 29, 2016 Category: Cardiology Source Type: research

Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy
Background: Mitochondrial myopathies (MM) are a heterogeneous group of inherited conditions resulting from a primary defect in the mitochondrial respiratory chain with consecutively impaired cellular energy metabolism. Small sized studies using mainly electrocardiography (ECG) and echocardiography have revealed cardiac abnormalities ranging from conduction abnormalities and arrhythmias to hypertrophic or dilated cardiomyopathy in these patients. Recently, characteristic patterns of cardiac involvement were documented by cardiovascular magnetic resonance (CMR) in patients with c hronic p ...
Source: Journal of Cardiovascular Magnetic Resonance - May 22, 2015 Category: Radiology Authors: Anca FlorianAnna LudwigBianca Stubbe-DrägerMatthias BoentertPeter YoungJohannes WaltenbergerSabine RöschUdo SechtemAli Yilmaz Source Type: research