Talk:Cardiovascular System - Double Outlet Right Ventricle
| About Discussion Pages |
|---|
Glossary Links
Cite this page: Hill, M.A. (2026, October 16) Embryology Cardiovascular System - Double Outlet Right Ventricle. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Cardiovascular_System_-_Double_Outlet_Right_Ventricle |
2017
HAND1 loss-of-function mutation contributes to congenital double outlet right ventricle
Int J Mol Med. 2017 Jan 20. doi: 10.3892/ijmm.2017.2865.
Li L1, Wang J2, Liu XY3, Liu H4, Shi HY4, Yang XX4, Li N4, Li YJ4, Huang RT5, Xue S5, Qiu XB4, Yang YQ4.
Abstract
Congenital heart defects (CHDs), a wide variety of developmental abnormalities in the structures of the heart and the great thoracic blood vessels, are the most common form of birth defect in humans worldwide. CHDs are accountable for substantial morbidity and are still the leading cause of birth defect‑related deaths. Recent studies have demonstrated the pivotal roles of genetic defects in the pathogenesis of CHDs, and a great number of genetic mutations have been associated with CHDs. Nevertheless, CHDs are a genetically heterogeneous disorder and the genetic basis underlying CHDs in an overwhelming majority of cases remains unclear. In the present study, the coding exons and flanking introns of the heart and neural crest derivatives expressed transcript 1 (HAND1) gene, which encodes a basic helix‑loop‑helix transcription factor crucial for cardiovascular development, were sequenced in 158 unrelated patients with CHDs, and a de novo heterozygous mutation, p.K132X, was identified in a patient with double outlet right ventricle (DORV), as well as ventricular septal defect. The nonsense mutation, which was predicted to produce a truncated HAND1 protein lacking 84 carboxyl‑terminal amino acids, was absent in 600 control chromosomes. Functional analyses revealed that the HAND1 K132X mutant had no transcriptional activity. Furthermore, the mutation disrupted the synergistic activation between HAND1 and GATA binding protein 4 (GATA4), another cardiac core transcription factor causally linked to CHDs. To the best of our knowledge, this is the first report on the association of HAND1 loss‑of‑function mutation with an enhanced susceptibility to DORV in humans. These findings expand the phenotypic spectrum linked to HAND1 mutations, suggesting potential implications for the development of novelo prophylactic and therapeutic strategies for DORV.
PMID 28112363 DOI: 10.3892/ijmm.2017.2865
Double-outlet right ventricle with an intact interventricular septum and concurrent hypoplastic left ventricle in a calf
J Vet Cardiol. 2017 Jan 19. pii: S1760-2734(16)30142-4. doi: 10.1016/j.jvc.2016.11.002.
Newhard DK1, Jung SW2, Winter RL1, Kuca T1, Bayne J1, Passler T1.
Abstract
A 3-day-old Hereford heifer calf presented for evaluation of lethargy and dyspnea, with persistent hypoxia despite supplemental oxygen therapy. A grade III/VI right apical systolic murmur was noted during cardiac auscultation. Echocardiography revealed a double-outlet right ventricle with an intact interventricular septum and concurrent hypoplastic left ventricle and tricuspid valve dysplasia. Post-mortem examination revealed additional congenital anomalies of ductus arteriosus, patent foramen ovale, and persistent left cranial vena cava. This report illustrates the use of echocardiographic images to diagnose a double-outlet right ventricle with an intact interventricular septum and a hypoplastic left ventricle in a calf. Copyright © 2016 Elsevier B.V. All rights reserved. KEYWORDS: Bovine; Congenital heart defect; Persistent hypoxia
PMID 28111139 DOI: 10.1016/j.jvc.2016.11.002
