An extremely rare case of prenatally diagnosed absent both aortic and pulmonary valves

Abstract

We describe a case of absent aortic and pulmonary valves, diagnosed at 16.4 weeks of gestation. Fetal echocardiography showed cardiomegaly with dilated both ventricles. No valve leaflets were observed in the aorta and pulmonary artery, and a typical to-and-fro flow pattern was noted in both great arteries on color Doppler imaging. Fetal hydrops was also detected. Follow-up ultrasonographic evaluation at 19 weeks demonstrated intrauterine fetal death. Postmortem autopsy revealed the absence of both aortic and pulmonary valve leaflets. To the best of our knowledge, this is the earliest diagnosed case of absent both aortic and pulmonary valves and only the second case to be diagnosed prenatally.

A rare case of diagnosed absent aortic valve and severely hypoplastic pulmonary valve with double outlet right ventricle: A case report

“…The development of this anomaly is accompanied by severe hemodynamic disturbances, often not after the birth of a child, but in utero. This fact is confirmed by some publications that witness to antenatal death of the fetus with a registered case of the absence of semilunar valves [ [3] , [4] , [5] , [6] ]. The most likely cause of intrauterine fetal death is associated with the development of severe volume overload of both ventricles against the background of severe aortic and pulmonary regurgitation, which leads to the development of severe heart failure and fetal hydrops.…”

“…Developmental disorders of the semilunar valves are most likely to be often associated with anomalies of the conotruncus, which lead to the development of, for example, tetralogy of Fallot, a double outlet of great vessels from the right ventricle and other CHD of this group [ 5 ]. At the same time, cases of the absence of one or both semilunar valves without concomitant pathology of the conotruncus have been described [ 4 ]. There is also a version that developmental disorders of the embryogenesis of the endocardial pads during the formation of the ventriculo-arterial junction may be the cause of agenesis of the semilunar valves [ 3 , 7 ].…”

Transthoracic Echocardiographic Evaluation of Pulmonary Valve Anomalies in Pediatric Patients

“…Congenital pulmonary valve absence is a rare anomaly occurring in approximately 0.2% to 0.4% of live births with congenital heart disease. 7,8 Furthermore, most of these pediatric cases are associated with TOF, while other cases are associated with Ebstein anomaly, double-chambered right ventricle, atrial septal defect, and tricuspid atresia. 9,10 In approximately 3% to 6% of TOF patients, the pulmonary valve cusps are absent or only a rudimentary ridge of tissue is present.…”

Prenatal diagnosis of congenital absence of aortic valve associated with restrictive foramen ovale: Hemodynamic features and clinical outcome

“…Prenatal diagnosis of AAV was first reported in 1984, and the number of reported cases is increasing gradually . Its pathogenesis is unknown.…”