American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
A case of rapid and extensive cardiac myocyte microcalcification in a patient admitted to intensive care following out-of-hospital cardiac arrest. [PDF]
Surg Exp PatholJayarathna GB, Westaby J, Sheppard MN.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim +8 more
wiley +1 more source
Attenuation of epicardial activation and myofibroblast abundance via the Fbln2-Nupr1b axis stimulates cardiac regeneration in zebrafish. [PDF]
Nat Cardiovasc ResKayman Kürekçi G +8 more
europepmc +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
Transcriptome-based maturation assessment revealed pro-maturation transcription factors of cardiomyocytes. [PDF]
Front Bioeng BiotechnolChanthra N +6 more
europepmc +1 more source
Rapid measurement of B-type natriuretic peptide in the emergency diagnosis of heart failure.
New England Journal of Medicine, 2002 A. Maisel +17 more
semanticscholar +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Dilated Cardiomyopathy Phenotype With Global (Four-Chamber) Involvement in a Cat: Echocardiographic, Pathological, Histopathological, and Immunohistochemical Findings. [PDF]
Case Rep Vet MedRomito G, Costa A, Morini M.
europepmc +1 more source