Double outlet right ventricle

Anderson, Robert H.; McCarthy, Karen; Cook, Andrew C.

doi:10.1017/s1047951101000373

Cited by 45 publications

(21 citation statements)

References 25 publications

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“…Morphological models of DORV have included abnormalities of cardiac septation, rotation, remodelling and haemodynamics 38 115 – 119. The current challenge is to couple what is valid from the mechanistic models with the insights of developmental genetics.…”

Section: Discussionmentioning

confidence: 99%

Double outlet right ventricle: aetiologies and associations

Obler

Juraszek

Smoot

et al. 2008

Journal of Medical Genetics

104

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Background: Double outlet right ventricle (DORV), a clinically significant congenital heart defect, occurs in 1-3% of individuals with congenital heart defects. In contrast to other major congenital heart defects, there are no systematic or comprehensive data regarding associations, aetiologies, and pathogenesis of DORV. We analysed reported cases in the medical literature to address these issues. Methods: We queried the PubMed database using key words ''double outlet right ventricle'' and ''DORV'' for case reports, epidemiologic analyses and animal studies with this cardiac anomaly. The anatomic subtype of DORV was classified according to criteria of Van Praagh. Results: Chromosomal abnormalities were present in 61 of the 149 cases of DORV. Trisomies 13 and 18, and del 22q11 were the most commonly associated cytogenetic lesions; different anatomic subtypes of DORV were noted in trisomies 13 and 18 versus del 22q11. DORV was reported in many uncommon or rare non-chromosomal syndromes. Mutations and non-synonymous sequence variants in the CFC1 and CSX genes were the most commonly reported monogenic loci associated with DORV in humans; numerous genes are reported in murine models of DORV. Animal studies implicate maternal diabetes and prenatal exposure to ethanol, retinoids, theophylline, and valproate in DORV teratogenesis. Conclusions: The large number of genes associated with DORV in both humans and animal models and the different anatomic subtypes seen in specific aetiologies indicate the likelihood of several distinct pathogenetic mechanisms for DORV, including impairment of neural crest derivative migration and impairment of normal cardiac situs and looping.

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Section: Discussionmentioning

confidence: 99%

Double outlet right ventricle: aetiologies and associations

Obler

Juraszek

Smoot

et al. 2008

Journal of Medical Genetics

104

View full text Add to dashboard Cite

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“…Usually the ventricular septum is formed by four portions which are called ‘inlet’, ‘outlet’, ‘trabecular’ and ‘membranous’. Usually, these four portions fuse to form the mature ventricular septum 3 . However, in DORV cases, the outlet septum (which is the portion between the aorta and the pulmonary artery in the short axis, and the outflow tract in the long axis) deviates forwards along with the shift of the great arteries, and a VSD will be formed naturally.…”

Section: Discussionmentioning

confidence: 99%

Double outlet right ventricle with intact ventricular septum

Sakurai

Fuse

Takamuro

et al. 2007

Pediatrics International

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In double outlet right ventricle (DORV), a ventricular septal defect (VSD) is usually the only outlet from the left ventricle. In other words, a VSD is essential for survival and its position and size determine the hemodynamics of such cases. We report a rare case of DORV with intact ventricular septum, hypoplastic left ventricle and severe mitral regurgitation. In this case, mitral regurgitation is the only outlet from the left ventricle. Case reportWe report a rare case of DORV with an intact ventricular septum (intact VS). The patient was a 2-day-old boy, born at 39 weeks and weighing 3090 g, who was referred to the because of a heart murmur. He had cyanosis and a systolic murmur at the lower intercostal spaces. Chest X-ray showed cardiomegaly (cardiothoracic ratio, 67%) and the electrocardiogram revealed normal sinus rhythm, right axis deviation and right ventricular hypertrophy. Echo cardiography demonstrated situs solitus, normal relationship of great arteries, side by side, bilateral conus, intact VS, persistent foramen ovale, pulmonary stenosis and severe mitral valve insuffi ciency ( Fig. 1a,b). We performed balloon atrial septostomy when he was 1 month old, and he underwent a left modifi ed Blalock -Taussig shunt at 5 months. Cardiac catheterization was performed when he was 18 months old. His left ventricular pressure was extremely low, 10/4 mmHg, the diastolic volume was 11 mL, 48% of normal, and the ejection fraction was 76%. Left ventricular angiography showed a smooth and thin wall of the left ventricle, resembling Uhl's disease. Both right and left coronary artery were normally demonstrated ( Fig. 2). Right ventricular pressure was 92/11 mmHg with a pulmonary artery Patient Report Key wordsdouble outlet right ventricle , hypoplastic left ventricle , intact ventricular septum , severe mitral regurgitation . Fig. 1 (a) Short axis view of echography demonstrating normal relationship of great arteries, side by side, and bilateral conus. (b) Parasternal four chamber echocardiogram demonstrating an intact ventricular septum, the thin left ventricular wall and a hypoplastic anterior mitral valve.

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“…Anderson et al . recommend the term interventricular communication, in preference to ventricular septal defect, when describing the defect between the 2 ventricles in double outlet RV.…”

mentioning

confidence: 99%

“…Double outlet right ventricle (RV) describes a range of pathology where both great arteries arise, either entirely or in greater part from the morphologic RV. 1 Accurate prediction of the optimal surgical approach is challenging. Ideally, assuming that the ventricles are balanced with respect to their size, a biventricular repair is normally attempted.…”

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confidence: 99%