Results 71 to 80 of about 117,472 (257)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice +10 more
wiley +1 more source
Rabbit Dilated Cardiomyopathy [PDF]
, 1990 Viruses have long been recognized as important etiologic agents of heart disease in man and experimental animals1. Epidemiologic evidence suggests that between 2–5% of a virus-infected population experiences some degree of cardiac involvement2. Virus infection may result in degeneration and necrosis of myocytes by direct cytotoxicity and cause ...
R S, Baric, S, Edwards, J D, Small
openaire +2 more sources
The genetics of dilated cardiomyopathy [PDF]
Current Opinion in Cardiology, 2010 More than 40 different individual genes have been implicated in the inheritance of dilated cardiomyopathy. For a subset of these genes, mutations can lead to a spectrum of cardiomyopathy that extends to hypertrophic cardiomyopathy and left ventricular noncompaction. In nearly all cases, there is an increased risk of arrhythmias.
Lisa, Dellefave, Elizabeth M, McNally
openaire +2 more sources
Characteristics of Uremic Cardiomyopathy with Reversible Systolic Dysfunction [PDF]
, 2009 Background: There exists a sub group of patients with uremic cardiomyopathy who experience resolution of heart failure following hemodialysis.
Shamanna Iyengar, Srilakshmi Adhyapak
core
Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry [PDF]
, 2021 Aims: Dilated cardiomyopathy (DCM) is a complex disease where genetics interplay with extrinsic factors. This study aims to compare the phenotype, management, and outcome of familial DCM (FDCM) and non-familial (sporadic) DCM (SDCM) across Europe ...
Cardiomyopathy & Myocarditis Registry Investigators Group
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright +10 more
wiley +1 more source
Results of comprehensive diagnostic work-up in ‘idiopathic’ dilated cardiomyopathy
, 2015 Objective Dilated cardiomyopathy (DCM) is characterised by left ventricular dilation and dysfunction not caused by coronary disease, valvular disease or hypertension.
Scott, Helge +7 more
core +1 more source
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
Refining a preclinical model of viral myocarditis in accordance with biotech standards
Animal Models and Experimental Medicine, EarlyView.This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen +9 more
wiley +1 more source
BMC Medical Genetics, 2009 Background The mitochondrial DNA (mtDNA) T16189C polymorphism, with a homopolymeric C-tract of 10–12 cytosines, is a putative genetic risk factor for idiopathic dilated cardiomyopathy in the African and British populations.
Poulton Joanna +5 more
doaj +1 more source