Non-Fallot Absent Pulmonary Valve Syndrome in Fetuses: Key Insights for Prenatal Diagnosis and Postnatal Care

Abstract

Absent pulmonary valve syndrome (APVS) is a rare cardiac malformation that is almost always associated with a Fallot-type ventricular septal defect (VSD). More rarely, it can occur with an intact ventricular septum or muscular VSD. The limited number of observations reported in the medical literature affects the quality of prenatal counselling given to the families concerned. We report 3 new cases of APVS without Fallot-type VSD, with 1 case associated with a muscular VSD, and have carried out a review of the literature on this rare malformation. Two of the fetuses had hydrops fetalis and one of these two had intra-uterine death. A 16p13.11 microduplication transmitted by the father was found in one fetus whose post-natal evolution was favorable following surgical ligation of an aneurysmal ductus arteriosus. A newborn with hydrops fetalis had a favorable outcome after spontaneous closure of the ductus arteriosus on the third day of life. Unlike Fallot-type APVS, non-Fallot type APVS is characterized antenatally by the constant presence of a large ductus arteriosus, the absence of aneurysmal pulmonary branches, a high frequency of chromosomal anomalies, but the absence of 22q11 micro deletion. After birth, early closure of the ductus may be indicated in cases of significant heart failure.

Keywords

Absent pulmonary valve syndrome / Antenatal diagnosis / Counselling / 16p13.11 duplication

upplementary Materials

The following supporting information can be found at: https://www.sciepublish.com/article/pii/751, Video S1: Case #1: Four-chamber view showing a 90° deviation of the cardiac axis and right ventricular hypertrophy and dilation. LA: left atria, LV: left ventricle, RA: right atria, RV right ventricle; Video S2: Case #1: Color Doppler showing a to-and-fro flow between the right ventricle (RV) and the pulmonary artery (PA).

Author Contributions

Conceptualization, G.V., P.G., M.-P.G., A.R. and I.B.; Investigation, G.V., P.G., M.-P.G., A.R. and I.B.; Writing—Original Draft Preparation, G.V.; Review and editing, G.V., P.G., M.-P.G., A.R. and I.B.

Ethics Statement

All patient data were fully anonymized, and individual consent was not required in accordance with institutional and ethical guidelines for retrospective studies. This study was conducted in accordance with the ethical principles outlined in the Declaration of Helsinki.

Informed Consent Statement

Informed consent was obtained from the patients for the publication of this case series.

Data Availability Statement

No datasets were generated or analyzed during the current study.

Funding

The research did not receive external funding.

Declaration of Competing Interest

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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