Presenter Status

Fellow

Abstract Type

Case report

Primary Mentor

Maria G. Kiaffas

Start Date

3-5-2022 11:30 AM

End Date

3-5-2022 1:30 PM

Presentation Type

Poster Presentation

Description

Background: Congenitally absent aortic valve (AAoV) is a rare anomaly associated with high incidence of perinatal mortality.

Case: A female fetus of twin gestation underwent a fetal echocardiogram at 24 weeks gestation. Findings: rudimentary AoV leaflets with severe aortic insufficiency and aortic arch flow reversal, left ventricular (LV) non-compaction with severe dysfunction. Continuous moderate regurgitation across a dysplastic, functionally atretic mitral valve and borderline restrictive left to right flow through the foramen ovale (FO) was noted, setting for an inverse circular shunt: Aorta - LV- left to right atrium (FO) - right ventricle - pulmonary artery - ductus arteriosus - aorta. Delivery occurred at 27 weeks followed by death on day 8 of life. Microarray revealed Turner’s syndrome.

Decision Making: Survival of AAoV is rare in presence of an inverse circulatory shunt and a restrictive FO, worsening postnatally with increase in systemic vascular resistance. Postnatal intervention with Norwood procedure and oversewing of the AoV is an option. In our case, prematurity and preclusion from extracorporeal circulatory support candidacy limited therapy to vasoactive agents which proved ineffective resulting in the newborn’s demise.

Conclusions: FE evaluation of hemodynamics in AAoV is essential. Prematurity, an inverse circular shunt and chromosomal anomaly are bad prognostic factors that should be considered in parental counselling and postnatal management planning.

Included in

Pediatrics Commons

Share

COinS
 
May 3rd, 11:30 AM May 3rd, 1:30 PM

Prenatal diagnosis of absent aortic valve with continuous mitral regurgitation in Turner’s syndrome: Too many things gone awry

Background: Congenitally absent aortic valve (AAoV) is a rare anomaly associated with high incidence of perinatal mortality.

Case: A female fetus of twin gestation underwent a fetal echocardiogram at 24 weeks gestation. Findings: rudimentary AoV leaflets with severe aortic insufficiency and aortic arch flow reversal, left ventricular (LV) non-compaction with severe dysfunction. Continuous moderate regurgitation across a dysplastic, functionally atretic mitral valve and borderline restrictive left to right flow through the foramen ovale (FO) was noted, setting for an inverse circular shunt: Aorta - LV- left to right atrium (FO) - right ventricle - pulmonary artery - ductus arteriosus - aorta. Delivery occurred at 27 weeks followed by death on day 8 of life. Microarray revealed Turner’s syndrome.

Decision Making: Survival of AAoV is rare in presence of an inverse circulatory shunt and a restrictive FO, worsening postnatally with increase in systemic vascular resistance. Postnatal intervention with Norwood procedure and oversewing of the AoV is an option. In our case, prematurity and preclusion from extracorporeal circulatory support candidacy limited therapy to vasoactive agents which proved ineffective resulting in the newborn’s demise.

Conclusions: FE evaluation of hemodynamics in AAoV is essential. Prematurity, an inverse circular shunt and chromosomal anomaly are bad prognostic factors that should be considered in parental counselling and postnatal management planning.

 

To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.