Double outlet right ventricle in the setting of hypoplastic left ventricle, mitral atresia, interruption of aortic arch, and uncommon intra‐atrial anomalies in Trisomy 18

Abstract

We present the case of a 1-day-old newborn, with prenatal diagnosis of Trisomy 18 and complex congenital heart disease. Echocardiography at birth showed double outlet right ventricle with non-committed interventricular communication in the setting of mitral atresia, hypoplastic left ventricle, and patent aortic root with bicuspid aortic valve and type A interrupted aortic arch. Adding anomalies were the typical congenital polyvalvular disease, Chiari network, and left intra-atrial shelf dividing morphologically left atrium. This is a rare combination of cardiac anatomical malformations in Trisomy 18.

Imaging characteristics and associations of left atrioventricular valve atresia and patent aortic root with lateralized atrial chambers on multidetector CT

“…The most common ventriculo‐arterial connection in our cohort was a DORV (29; 76.3%), a subset called MA‐DORV as described in many reports 9,10,13 . In this subset, while 15 patients had normally related great arteries, aorta was anterior to PA in 13.…”

“…In literature, such obstructive lesions at the level of arch is described invariably in patients with normal pulmonary valve . 9,16 Indeed, both patients (1 with coarctation and interruption, each) in our cohort had normal pulmonary valves. A low prevalence of such obstructive arch anomalies along with a much lower prevalence of normal pulmonary valve in our cohort when compared to the literature does support the above theory.…”

“…The categorization of our cohort into two groups-those with imperforate left atrioventricular valve membrane and those with T A B L E 2 Morpho-anatomic types of left atrioventricular valve atresia with patent aortic root according to the classification by Mickell et al 8 and the number of such patients in our study The most common ventriculo-arterial connection in our cohort was a DORV (29; 76.3%), a subset called MA-DORV as described in many reports. 9,10,13 In this subset, while 15 patients had normally related great arteries, aorta was anterior to PA in 13. This finding is in concordance with the observation of Moreno et al 14 Discordant ventriculo-arterial connections (transposition) were seen in 4 patients in our series.…”

“…Owing to the rarity of this condition, there is limited literature on this entity and most of these are autopsy series or case reports. [8][9][10][11][12][13][14] It is well known that imaging of the congenital heart diseases has been revolutionized by the drastic technical developments in the noninvasive imaging modalities like echocardiography, computed tomography (CT) and magnetic resonance imaging. Hence, it is prudent to describe the imaging characteristics of left atrioventricular valve atresia in a new light.…”

Double outlet right ventricle

“…A wide variety of cardiac malformations of the heart may accompany DORV including coarctation of the aorta (CoA), severe mitral valve malformations like mitral atresia, laterality defects such as the heterotaxy syndromes of isomerism of the atrial appendages ( 16 , 17 ), aortic and pulmonary stenosis ( 18 ), interrupted aortic arch (IAA) and aortic arch obstruction ( 19 , 20 ) like hypoplasia or atresia of part of the aortic arch ( Figure 5C ), bicuspid aortic valve ( 21 , 22 ), and double inlet–double outlet right ventricle ( 23 ) and straddling tricuspid valve (TV) ( Figure 2B ).…”