Results 41 to 50 of about 71,934 (217)

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

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, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +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, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +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, Julia Riedesel, Juliane Stein, Brandon H. Greene, Svenja Rohde, Sonja Suess, Bjoern Keiner, Priya Panjwani, Padmapriya Ponnuswamy, Juan E. Camacho Londoño   +9 more
wiley   +1 more source

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study

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, Syed Faisal F, Engel Mark E, Shaboodien Gasnat, Badri Motasim, Mayosi Bongani M   +5 more
doaj   +1 more source

Progression and prognostic significance of electrocardiographic findings in patients with cardiac amyloidosis

ESC Heart Failure, Volume 12, Issue 2, Page 809-818, April 2025.
Abstract Aims This study aimed to evaluate the change of the main electrocardiographic (ECG) characteristics and their prognostic role across the main subtypes of cardiac amyloidosis [light‐chain amyloidosis (AL) and hereditary (ATTRv) and wild‐type transthyretin amyloidosis (ATTRwt)].
Alessia Argirò, Mattia Zampieri, Carlotta Mazzoni, Carlo Fumagalli, Michela Baccini, Alessandra Mattei, Alberto Cipriani, Laura De Michieli, Aldostefano Porcari, Gianfranco Sinagra, Marco Merlo, Giacomo Tini, Beatrice Musumeci, Domitilla Russo, Pier Filippo Vianello, Marco Canepa, Roberto Licordari, Gianluca di Bella, Claudio Rapezzi, Federico Perfetto, Francesco Cappelli   +20 more
wiley   +1 more source

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

ESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang, Umar Raza, Jia Song, Junyan Lu, Shun Yao, Xiaohong Liu, Wei Zhang, Shujuan Li   +7 more
wiley   +1 more source

Sudden Death from Dilated Cardiomyopathy: Case Report

Siriraj Medical Journal, 2014
Sudden unexpected death is commonly dealt by a forensic pathologists with sudden cardiac death being a major cause of death in Thai population. Even though dilated cardiomyopathy is the most common type of cardiomyopathy found, it rarely results in ...
Sakda Sathirareuangchai
doaj  

Dilated cardiomyopathy due to hypocalcaemia: a case report

Journal of Medical Case Reports
Background Hypocalcaemia is a rare, but reversible, cause of dilated cardiomyopathy causing heart failure. Several case reports have been reported on reversible cardiomyopathy secondary to hypocalcaemia.
Nilushka Rupasinghe, Priyanga Ranasinghe, Leonard Wanninayake   +2 more
doaj   +1 more source

Gut microbiota‐related modulation of immune mechanisms in post‐infarction remodelling and heart failure

ESC Heart Failure, Volume 12, Issue 2, Page 942-954, April 2025.
Abstract The immune system has long been recognized as a key driver in the progression of heart failure (HF). However, clinical trials targeting immune effectors have consistently failed to improve patient outcome across different HF aetiologies. The activation of the immune system in HF is complex, involving a broad network of pro‐inflammatory and ...
Johann Roessler, Friederike Zimmermann, Bettina Heidecker, Ulf Landmesser, Arash Haghikia   +4 more
wiley   +1 more source