Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8820915 | PMC |
| http://dx.doi.org/10.1097/GOX.0000000000004042 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A case report of severe pneumonia caused by infection complicated with severe atrial septal defect.
Front Med (Lausanne)
November 2024
Intensive Care Unit, Changshu No. 2 People's Hospital, Suzhou, China.
is an increasingly recognized human pathogen in recent years and was first isolated and reported in a sample of childhood diarrhea in Bangladesh. More and more cases of infection have been reported in recent years. Here we report a case of severe pneumonia caused by with severe atrial septal defect.
View Article and Find Full Text PDFPrenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.
Prenat Diagn
September 2024
Service de Génétique Médicale, CHU Nantes, Nantes, France.
Myhre syndrome is a rare genetic disease caused by recurrent gain-of-function variants in SMAD4 (Ile500Thr, Ile500Val, Arg496Cys, and Ile500Met) characterized by postnatal short stature with pseudo-muscular build, joint stiffness, variable intellectual disability, hearing loss, and a distinctive pattern of dysmorphic facial features. The course can be severe in some cases, with life-threatening cardiac and pulmonary complications caused by connective tissue involvement. These progressive features over time make early clinical diagnosis difficult but possible by astute clinicians who evaluate young children with autism or short stature and unusual appearance.
View Article and Find Full Text PDFPartial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report.
Birth Defects Res
July 2024
Perinatal Cardiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Background: A peculiar subgroup of patients with partial or complete atrioventricular canal defect exhibits a spectrum of left-sided obstructions including right ventricular dominance and aortic coarctation. The association of atrioventricular canal defect with left-sided obstructions is found in several genetic syndromes; however, the molecular basis of nonsyndromic atrioventricular canal defect with aortic coarctation is still poorly understood. Although some candidate genes for nonsyndromic atrioventricular canal defect are known, a complex oligogenic inheritance determined in some cases by the co-occurrence of multiple variants has also been hypothesized.
View Article and Find Full Text PDFLVSP and LBBP Result in Similar or Improved LV Synchrony and Hemodynamics Compared to BVP.
JACC Clin Electrophysiol
July 2024
Institute of Clinical and Experimental Medicine, Prague, Czech Republic.
Article Synopsis
- The study investigates how left ventricular septal myocardial pacing (LVSP) and left bundle branch pacing (LBBP) compare to biventricular pacing (BVP) on heart function and electrical synchrony in patients needing cardiac resynchronization therapy.
- Findings show that while QRS duration was similar across all pacing methods, LBBP led to improved electrical synchrony and higher systolic blood pressure compared to BVP.
- Results indicate that LVSP and BVP offered similar outcomes, but LBBP was superior, particularly in patients without ischemic heart disease.
High-Throughput Genomics Identify Novel Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
Int J Mol Sci
May 2024
Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Fibrillin-1 and fibrillin-2, encoded by and , respectively, play significant roles in elastic fiber assembly, with pathogenic variants causing a diverse group of connective tissue disorders such as Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCD). Different genomic variations may lead to heterogeneous phenotypic features and functional consequences. Recent high-throughput sequencing modalities have allowed detection of novel variants that may guide the care for patients and inform the genetic counseling for their families.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!