Prenatal diagnosis and postnatal outcome in patients with absent pulmonary valve syndrome not associated with tetralogy of Fallot: report of one case and review of the literature

Abstract

Echocardiographic diagnosis of absent pulmonary valve syndrome and muscular ventricular septal defect was made in a fetus of gestational age 25 weeks referred for marked dilation of the right ventricle at obstetric ultrasound examination. Delivery was planned in a tertiary-level center. The neonate became severely symptomatic for respiratory distress and heart failure during the second day of life. His clinical condition dramatically improved after surgical closure of a large ductus arteriosus. The child is still asymptomatic 30 months later. In the minority of cases with absent pulmonary valve not associated with tetralogy of Fallot, irrespective of the presence of muscular ventricular septal defect, early closure of the ductus may be crucial to improve hemodynamic conditions and postpone surgical correction.

Prenatal physiologic findings and postnatal advanced imaging in the management of absent pulmonary valve syndrome with intact ventricular septum

“…Absent (or rudimentary) pulmonary valve leaflets cause severe dilation of the pulmonary trunk and branches in the setting of valvar stenosis and severe insufficiency. In rare cases, APVS can occur in isolation with an intact ventricular septum, and unlike the TOF variant, a DA is usually present . The presence of a large DA results in severe respiratory distress and signs of congestive heart failure early after birth which can be improved by early surgical closure of the DA .…”

“…The presence of a large DA results in severe respiratory distress and signs of congestive heart failure early after birth which can be improved by early surgical closure of the DA . There are 15 reported cases of prenatally diagnosed APVS/IVS . Significant tricuspid valve pathology was present in 11 (9 atretic, 1 stenotic, and 1 severely regurgitant) and was associated with poor outcomes (20% transplant‐free survival, all with single ventricle physiology) .…”

“…Surgical management for APVS/IVS without tricuspid valve pathology includes early ligation of the DA to prevent cardiorespiratory failure and pulmonary arterioplasty with or without homograft later in life if symptoms develop . Of the 4 previously reported cases, three underwent neonatal DA ligation for early respiratory distress and the fourth underwent complete repair “beyond the neonatal period” without need for neonatal DA ligation . One of the subjects with neonatal DA ligation developed exercise intolerance at age 14 and required complete surgical repair with pulmonary homograft and MPA plication …”

“…In rare cases, APVS can occur in isolation with an intact ventricular septum, and unlike the TOF variant, a DA is usually present. [5][6][7] The presence of a large DA results in severe respiratory distress and signs of congestive heart failure early after birth which can be improved by early surgical closure of the DA. 5 There are 15 reported cases of prenatally diagnosed APVS/ IVS.…”

“…5 There are 15 reported cases of prenatally diagnosed APVS/ IVS. 3,4,[6][7][8][9] Significant tricuspid valve pathology was present in 11 (9 atretic, 1 stenotic, and 1 severely regurgitant) 3,4,7,8 and was associated with poor outcomes (20% transplant-free survival, all with single ventricle physiology). 3,4,7 Of the 4 remaining cases without tricuspid valve disease, two resulted in termination of pregnancy 9 and two were live born.…”