Results 61 to 70 of about 19,870 (257)
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
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Urology Case Reports, 2020 An 11-month-old boy with unilateral Wilms tumor had an unusual presentation, with dilated hypertensive cardiomyopathy, acute myocarditis, pulmonary edema, and congestive heart failure secondary to the Wilms tumor and requiring intensive care.
Jae Min Chung, Sang Don Lee
doaj +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
Contemporary Outcome in Patients With Idiopathic Dilated Cardiomyopathy
, 2015 Outcome is better in patients with idiopathic dilated cardiomyopathy (IDC) than in ischemic heart failure (HF), but morbidity and mortality are nevertheless presumed to be substantial. Most data on the prognosis in IDC stem from research performed before
Murbræch, Klaus +5 more
core +1 more source
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, EarlyView.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source
A case of dilated cardiomyopathy [PDF]
Rural and Remote Health, 2012 Dilated cardiomyopathy is a significant health problem in Africa. Diagnosis and treatment can be challenging as it frequently affects young patients and those without risk factors for cardiac disease.A previously well HIV negative 17 year old boy presented to Mseleni hospital in December 2011 with a short history of worsening shortness of breath on ...
J D, Binham, V, Fredlund
openaire +2 more sources