Introduction
Double Outlet Right Ventricle
- 1-1.5% of Congenital Heart Disease
- Both large arteries arise wholly or mainly from the right ventricle.
- Arrangement of the atrioventricular valves and the ventriculoarterial connections are variable.
- Clinical manifestations variable.
If the pulmonary trunk retains its location above the morphologically right ventricle, then the end result will be yet another variant of double outlet right ventricle, specifically with a subpulmonary interventricular communication. This variation is known as the Taussig-Bing malformation.
Some Recent Findings
- HAND1 loss-of-function mutation contributes to congenital double outlet right ventricle[1] "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."
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More recent papers
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International Classification of Diseases
The International Classification of Diseases (ICD) World Health Organization's classification used worldwide as the standard diagnostic tool for epidemiology, health management and clinical purposes. This includes the analysis of the general health situation of population groups. It is used to monitor the incidence and prevalence of diseases and other health problems.
ICD11
- LB01 Congenital anomaly of atrioventricular or ventriculo-arterial connections
ICD-11 Structural developmental anomalies of the circulatory system (draft)
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ICD-11 Beta Draft - NOT FINAL, updated on a daily basis, It is not approved by WHO, NOT TO BE USED for CODING except for agreed FIELD TRIALS.
20 Developmental Anomalies - Structural Developmental Anomalies
Beta coding and tree structure for "structural developmental anomalies" within this section are shown in the table below.
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Structural developmental anomalies of the circulatory system
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- Structural developmental anomaly of heart and great vessels
- LB00 Congenital heart or great vessel related acquired abnormality
- LB01 Congenital anomaly of atrioventricular or ventriculo-arterial connections
- LB01.1 Transposition of the great arteries
- LB01.2 Double outlet right ventricle
- LB01.3 Double outlet left ventricle
- LB01.4 Common arterial trunk
- LB01.Y Other specified congenital anomaly of atrioventricular or ventriculo-arterial connections
- LB01.Z Congenital anomaly of atrioventricular or ventriculo-arterial connections, unspecified
- LB02 Congenital anomaly of the mediastinal veins Congenital anomaly of atria or atrial septum
- LB20 Congenital anomaly of atrioventricular valves or septum
- LB21 Congenital anomaly of ventricles and ventricular septum
- LB21.1 Congenital right ventricular outflow tract obstruction
- LB21.2 Double-chambered right ventricle
- LB21.3 Tetralogy of Fallot
- LB21.4 Congenital left ventricular outflow tract obstruction
- LB21.5 Congenital ventricular septal defects
- LB21.Y Other specified congenital anomaly of ventricles and ventricular septum
- LB21.Z Congenital anomaly of ventricles and ventricular septum, unspecified
- LB22 Functionally univentricular heart
- LB23 Congenital anomaly of ventriculo-arterial valves and adjacent regions
- LB24 Congenital anomaly of great arteries including arterial duct
- LB.1 Congenital aorto-pulmonary window
- LB.2 Congenital anomaly of pulmonary arterial tree
- LB.3 Congenital anomaly of aorta and its branches
- LB.4 Tracheo-oesophageal compressive syndrome
- LB.5 Patent arterial duct
- LB.Y Other specified congenital anomaly of great arteries including arterial duct
- LB.Z Congenital anomaly of great arteries including arterial duct, unspecified
- LB25 Anomalous position-orientation of heart
- LB26 Total mirror imagery
- LB27 Left isomerism
- LB28 Congenital anomaly of coronary arteries
- LB29 Structural developmental anomalies of the pericardium
- LB2Y Other specified structural developmental anomaly of heart and great vessels
- LB2Z Structural developmental anomaly of heart and great vessels, unspecified
- LB30 Structural developmental anomalies of the peripheral vascular system
- LB30.1 Capillary malformations
- LB30.2 Lymphatic malformations
- LB30.21 Macrocystic lymphatic malformation
- LB30.22 Microcystic lymphatic malformation
- LB30.23 Cystic hygroma in fetus
- BD23.1 Primary lymphoedema
- EK91 Yellow nail syndrome
- LC5F.26 Noonan syndrome
- LB30.2Y Other specified lymphatic malformations
- LB30.2Z Lymphatic malformations, unspecified
- LB30.3 Peripheral venous malformations
- LB30.4 Peripheral arteriovenous malformations
- LB30.5 Peripheral arterial malformations
- LB30.6 Pulmonary arteriovenous fistula
- LB30.Y Other specified structural developmental anomalies of the peripheral vascular system
- LB30.Z Structural developmental anomalies of the peripheral vascular system, unspecified
- LB3Y Other specified structural developmental anomalies of the circulatory system
- LB3Z Structural developmental anomalies of the circulatory system, unspecified
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CD-11 Beta Draft - NOT FINAL, updated on a daily basis, It is not approved by WHO, NOT TO BE USED for CODING except for agreed FIELD TRIALS.
See also International Classification of Diseases | Abnormalities
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Anatomy
A human heart with double outlet from the right ventricle, but with a doubly committed interventricular communication. The proximal outflow cushions have fused, but have failed to muscularise. Because of this, the outlet septum, derived from the fused cushions, is fibrous and hypoplastic.
Double Outlet from Right Ventricle
Genetics
HAND1
Heart-And Neural Crest Derivatives-Expressed 1 (HAND1) gene located at 5q32, is a 215-amino acid protein transcription factor that contains a bHLH region and several potential phosphorylation sites. The mouse and human sequences share 93% overall sequence identity.
- Links: OMIM - HAND1
References
- ↑ <pubmed>28112363</pubmed>
Reviews
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Articles
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Search Pubmed
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External Links
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