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Specialty: Genetics & Stem Cells
Condition: Cardiomyopathy

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Total 19 results found since Jan 2013.

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
We report on a new phenotype of COQ4 deficiency: a childhood onset spinocerebellar ataxia with stroke-like episodes.
Source: Molecular Genetics and Metabolism Reports - September 13, 2018 Category: Genetics & Stem Cells Source Type: research

Genes, Vol. 12, Pages 1643: Mitochondrial Strokes: Diagnostic Challenges and Chameleons
We describe four cases of mitochondrial strokes to highlight the considerable overlap that exists with other neurological disorders, including viral and autoimmune encephalitis, ischemic stroke, and central nervous system (CNS) vasculitis, and discuss the clinical, laboratory, and imaging features that can help distinguish MELAS from these differential diagnoses.
Source: Genes - October 19, 2021 Category: Genetics & Stem Cells Authors: Chiara Pizzamiglio Enrico Bugiardini William L. Macken Cathy E. Woodward Michael G. Hanna Robert D. S. Pitceathly Tags: Article Source Type: research

Irisin, An Exercise-induced Bioactive Peptide Beneficial for Health Promotion During Aging Process
This study is expected to improve the understanding of irisin, which may be beneficial to identify novel and effective targets for the screening, diagnosis, or therapy of these chronic diseases, or develop promising interventional strategies, effective drug candidates, functional foods, or exercise mimetics.PMID:35793739 | DOI:10.1016/j.arr.2022.101680
Source: Ageing Research Reviews - July 6, 2022 Category: Genetics & Stem Cells Authors: Hu Zhang Xiaowen Wu Jiling Liang Michael Kirberger Ning Chen Source Type: research

GSE63847 AKT network of genes and impaired myocardial contractility during murine acute chagasic myocarditis
Contributors : Andrés F Henao-Martínez ; Anne H Agler ; Alan M Watson ; Corinne Hennessy ; Elizabeth Davidson ; Kim Demos-Davies ; Timothy A McKinsey ; Michael Wilson ; David A Schwartz ; Ivana V YangSeries Type : Expression profiling by arrayOrganism : Mus musculusRationale: Chagasic disease is associated with high morbidity in Latin America. Acute Chagasic myocarditis is consistently found in acute infections but little is known about its contribution to chronic cardiomyopathy. The aim of the study was to phenotypically characterize two strains of mice with differential Chagas infection susceptibility and correlate str...
Source: GEO: Gene Expression Omnibus - December 5, 2014 Category: Genetics & Stem Cells Tags: Expression profiling by array Mus musculus Source Type: research

Utility of a Dedicated Pediatric Cardiac Anticoagulation Program: The Boston Children’s Hospital Experience
Abstract Congenital heart disease is the leading cause of stroke in children. Warfarin therapy can be difficult to manage safely in this population because of its narrow therapeutic index, multiple drug and dietary interactions, small patient size, high-risk cardiac indications, and lack of data to support anticoagulation recommendations. We sought to describe our institution’s effort to develop a dedicated cardiac anticoagulation service to address the special needs of this population and to review the literature. In 2009, in response to Joint Commission National Patient Safety Goals for Anticoagulation, Boston...
Source: Mammalian Genome - January 8, 2015 Category: Genetics & Stem Cells Source Type: research

Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature
We described a patient with trisomy 13 who was diagnosed with LVNC‐dilated phenotype and died suddenly, as well as two additional patients with LVNC. All three patients had chronic heart failure without congenital heart disease and were treated with diuretics. To manage trisomy 13 with or without congenital heart disease, cardiac disease such as LVNC may present at any ages, and therefore cardiac evaluation should be considered as a part of their appropriate management.
Source: American Journal of Medical Genetics Part A - May 9, 2017 Category: Genetics & Stem Cells Authors: Anri Hayashi, Tomohiro Kumada, Fumihito Nozaki, Ikuko Hiejima, Minoru Shibata, Takashi Kusunoki, Tatsuya Fujii Tags: CLINICAL REPORT Source Type: research

LVOT-VTI is a Useful Indicator of Low Ventricular Function in Young Patients
This study indicates that LVOT-VTI can be a useful alternative measure of LV performance in children over 1  year.
Source: Mammalian Genome - May 22, 2017 Category: Genetics & Stem Cells Source Type: research

Sequencing of Linkage Region on Chromosome 12p11 Identifies PKP2 as a Candidate Gene for Left Ventricular Mass in Dominican Families
In conclusion, sequencing of our previously reported QTL identified common and rare variants within PKP2 to be associated with LVM. Future studies are necessary to elucidate the role these variants play in influencing LVM.
Source: G3: Genes Genomes Genetics - February 2, 2018 Category: Genetics & Stem Cells Authors: Dueker, N. D., Guo, S., Beecham, A., Wang, L., Blanton, S. H., Di Tullio, M. R., Rundek, T., Sacco, R. L. Tags: Investigations Source Type: research

Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype
ConclusionA founder effect of FD due to p.F113L mutation was documented by genealogy and genetics in a Portuguese region. In this late-onset phenotype, although cardiac manifestations carry the highest prognostic impact, extracardiac involvement is common.
Source: Molecular Genetics and Metabolism - July 25, 2019 Category: Genetics & Stem Cells Source Type: research

The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication
ConclusionDespite care in a specialized cardiovascular genetics clinic, approximately one half of FDRs of patients with HCM remained unscreened. Online interventions and videos may serve as supplemental tools for patients communicating genetic risk information to relatives.
Source: Molecular Genetics & Genomic Medicine - September 2, 2019 Category: Genetics & Stem Cells Authors: Stephanie Harris, Allison L. Cirino, Christina W. Carr, Hiwot M. Tafessu, Siddharth Parmar, Jeffrey O. Greenberg, Lara E. Szent ‐Gyorgyi, Roya Ghazinouri, Michelle G. Glowny, Kara McNeil, Efthalia F. Kaynor, Catherine Neumann, Christine E. S Tags: ORIGINAL ARTICLE Source Type: research

GSE144098 Sexual Dimorphism in Cardiac Transcriptome Associated with a Troponin C Murine Model of Hypertrophic Cardiomyopathy  
In this study we sought to characterize the sexual dimorphism observed within cardiac physiology and transcriptomics of adult male and female mice bearing the HCM-associated cTnC-A8V point mutation. The H CM mice showed a significant decrease in stroke volume, left ventricular diameter, volume, and relative wall thickness. Importantly, isovolumetric contraction time was significantly higher for female HCM mice. RNA sequencing revealed several altered canonical pathways within the HCM mice vs WT group s including an increase in EIF2 signaling, ILK signaling, actin nucleation by ARP-WASP complex, regulation of actin-based mo...
Source: GEO: Gene Expression Omnibus - January 23, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

Genes, Vol. 12, Pages 408: KLF15 Loss-of-Function Mutation Underlying Atrial Fibrillation as well as Ventricular Arrhythmias and Cardiomyopathy
Yang Min Zhang Atrial fibrillation (AF) represents the most common type of clinical cardiac arrhythmia and substantially increases the risks of cerebral stroke, heart failure and death. Accumulating evidence has convincingly demonstrated the strong genetic basis of AF, and an increasing number of pathogenic variations in over 50 genes have been causally linked to AF. Nevertheless, AF is of pronounced genetic heterogeneity, and the genetic determinants underpinning AF in most patients remain obscure. In the current investigation, a Chinese pedigree with AF as well as ventricular arrhythmias and hypertrophic cardiomyo...
Source: Genes - March 12, 2021 Category: Genetics & Stem Cells Authors: Ning Li Ying-Jia Xu Hong-Yu Shi Chen-Xi Yang Yu-Han Guo Ruo-Gu Li Xing-Biao Qiu Yi-Qing Yang Min Zhang Tags: Article Source Type: research

The benefits and challenges of family genetic testing in rare genetic diseases —lessons from Fabry disease
ConclusionIn this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases.
Source: Molecular Genetics & Genomic Medicine - April 9, 2021 Category: Genetics & Stem Cells Authors: Dominique P. Germain, Sergey Moiseev, Fernando Su árez‐Obando, Faisal Al Ismaili, Huda Al Khawaja, Gheona Altarescu, Fellype C. Barreto, Farid Haddoum, Fatemeh Hadipour, Irina Maksimova, Mirelle Kramis, Sheela Nampoothiri, Khanh Ngoc Nguyen Tags: REVIEW ARTICLE Source Type: research

Genetic findings in patients with primary fibrotic atrial cardiomyopathy
Eur J Med Genet. 2022 Jan 18:104429. doi: 10.1016/j.ejmg.2022.104429. Online ahead of print.ABSTRACTPrimary fibrotic atrial cardiomyopathy (PF-ACM) is a novel type of cardiomyopathy characterized by primary atrial fibrosis with arrhythmogenicity and increased stroke risk without ventricular myocardium involvement. However, genetic analysis regarding PF-ACM and genotype-phenotype correlations is lacking. A cohort of PF-ACM patients was recruited and followed up. Whole-exome sequencing (WES) was applied, and genes were screened using a cardiovascular disease (CVD)-related gene panel. Echocardiography and cardiac magnetic res...
Source: European Journal of Medical Genetics - January 22, 2022 Category: Genetics & Stem Cells Authors: Yue Zhu Jiaojiao Shi Bingyu Zheng Hailei Liu Chengzong Li Weizhu Ju Daowu Wang Chang Cui Minglong Chen Source Type: research