Results 11 to 20 of about 445,510 (263)
Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know.
European Heart Journal, 2021 There is increasing understanding of the genetic basis to dilated cardiomyopathy and in this review, we offer a practical primer for the practising clinician.
U. Tayal +4 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023 Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin +47 more
wiley +1 more source
Expanding the deep-learning model to diagnosis LVNC: Limitations and trade-offs [PDF]
Computer Methods in Biomechanics and Biomedical Engineering:
Imaging & Visualization. 2024, 2023 Hyper-trabeculation or non-compaction in the left ventricle of the myocardium (LVNC) is a recently classified form of cardiomyopathy. Several methods have been proposed to quantify the trabeculae accurately in the left ventricle, but there is no general agreement in the medical community to use a particular approach.
arxiv +1 more source
Genetics of Dilated Cardiomyopathy
Annual Review of Medicine, 2021 Dilated cardiomyopathy (DCM) is defined as dilation and/or reduced function of one or both ventricles and remains a common disease worldwide. An estimated 40% of cases of familial DCM have an identifiable genetic cause. Accordingly, there is a fast-growing interest in the field of molecular genetics as it pertains to DCM. Many gene mutations have been
Matthew R.G. Taylor +2 more
openaire +4 more sources
Mitochondrial Function and Dysfunction in Dilated Cardiomyopathy
Frontiers in Cell and Developmental Biology, 2021 Cardiac tissue requires a persistent production of energy in order to exert its pumping function. Therefore, the maintenance of this function relies on mitochondria that represent the “powerhouse” of all cardiac activities.
Daniela Ramaccini +10 more
semanticscholar +1 more source
Animal Models and Experimental Medicine, Volume 5, Issue 6, Page 542-549, December 2022., 2022 Schematic diagram showing RHAU can bind and unwind the G4 “knots” to modulate embryonic development and post‐natal organ function. Deficiency of RHAU gives rise to embryonic lethality, impaired organogenesis and organ dysfunction. RHAU modulates Nkx2‐5 mRNA and Yap1 mRNA at the post‐transcriptional level and facilitates the transcription of c‐Kit and ...
Chensi Yang +5 more
wiley +1 more source
The Lancet, 2010 Dilated cardiomyopathy is characterised by left ventricular dilation that is associated with systolic dysfunction. Diastolic dysfunction and impaired right ventricular function can develop. Affected individuals are at risk of left or right ventricular failure, or both. Heart failure symptoms can be exercise-induced or persistent at rest.
Henry Knipe, Hani Salam
openaire +3 more sources
NON ISCHEMIC CARDIOMYOPATHY – A CASE REPORT
Liaquat Medical Research Journal, 2023 Cardiomyopathies are a group of diseases characterized by the structural and functional abnormalities of the heart muscles in the absence of other illnesses that might be responsible for the observed myocardial anomaly.
Anny Ashiq Ali Anny Ashiq Ali +1 more
doaj +1 more source
Circulation, 2020 Supplemental Digital Content is available in the text. Background: Mutations in desmoplakin (DSP), the primary force transducer between cardiac desmosomes and intermediate filaments, cause an arrhythmogenic form of cardiomyopathy that has been variably ...
Eric Smith +15 more
semanticscholar +1 more source
Nature Communications, 2020 Dilated cardiomyopathy (DCM) is an important cause of heart failure and the leading indication for heart transplantation. Many rare genetic variants have been associated with DCM, but common variant studies of the disease have yielded few associated loci.
J. Pirruccello +18 more
semanticscholar +1 more source