‘Absent’ pulmonary valve with intact ventricular septum mimicking tricuspid valve atresia: Prenatal diagnosis and postnatal course

Abstract

Absent pulmonary valve syndrome is a rare congenital heart disease characterized by absent or rudimentary pulmonary valve leaflets and hypoplastic pulmonary annulus. The most common variant, associated with tetralogy of Fallot, implies dilatation of pulmonary branches and usually absent ductus arteriosus. Rarely, absent pulmonary valve occurs with intact ventricular septum: pulmonary branches are normally sized or mildly dilated and ductus arteriosus is usually patent. The rarest type is associated with intact ventricular septum and tricuspid atresia. A close connection has been raised between pulmonary regurgitation and development of tricuspid valve. We describe a case of prenatal diagnosed absent pulmonary valve with intact ventricular septum and patent ductus arteriosus in which severe pulmonary regurgitation caused reversible functional atresia of tricuspid valve. Postnatally, satisfactory biventricular circulation was obtained with inotropic support for a few days while ductus arteriosus closed spontaneously. At a 3-year follow up the child is asymptomatic without therapy. Key words: 2nd trimester ultrasound screening for aneuploidy and anomaly, diagnostic ultrasound and prenatal diagnosis, fetal therapy-medical.

Timely Surgical Intervention for Absent Pulmonary Valve Syndrome with an Intact Ventricular Septum in a Patient with a Long-Term Survival: A Case Report

“…Monacci et al and Favilli et al have demonstrated that the spontaneous or surgical closure of the ductus arteriosus (DA), along with the progressive reduction in pulmonary vascular resistance, are crucial factors in enhancing pulmonary forward flow and enhancing both systolic and diastolic right ventricular functions. [2,5] Furthermore, the patient's haemodynamic and clinical conditions may improve even though the RV is dilated, due to good contractility. Immediate pulmonary valve surgery is unnecessary.…”

“…Additionally, single-ventricle physiology condition is correlated with an underlying presence of tricus-pid atresia or stenosis, along with right ventricular hypoplasia. [1,2] APVS with an intact ventricular septum (IVS) or a small ventricular septum are rare subtypes of APVS and are associated with a high perinatal mortality. [3] Based on data from the foetal echocardiography database, the average gestational age for diagnosis can be as early as 21.5 weeks of gestation.…”

A Rare Subtype of Isolated Absent Pulmonary Valve Syndrome Predicts Long-term Surviving: Case report

“…The high loss rate was related to pregnancy termination, fetal heart failure, respiratory disease, and chromosomal abnormalities [1,2]. The long-term following-up information was rarely analysed, whether with or without surgery [2][3][4]. Hence, the correct time for subsequent pulmonary valve surgery remains unknown [5].…”

“…Absent pulmonary valve syndrome (APVS) with an intact ventricular septum (IVS) or small ventricular septum is a rare type of APVS associated with high perinatal mortality in fetuses. Although APVS/IVS constitutes only 7.5% to 25% of the APVS cohort, most fetuses (80%) will not survive to birth without inotropic support or heart transplantation due to fetal heart failure, hydrops fetalis, extracardiac and chromosomal abnormities, and pregnancy termination [1][2][3][4]. A ductus arteriosus(DA) is usually present in APVS/IVS patients, and a large DA could result in bronchial compression leading to severe respiratory symptoms and signs of congestive heart failure early after birth [5].…”

Absent Single Pulmonary Cusp Causing Isolated Pulmonary Valvar Regurgitation

“…While MPA and branch PA dilatation is a noted pathology, reports of airway compression by these dilated vessels is scarce. Literature search revealed analysis of this observation only in a subgroup of infants with prenatal diagnosis of absent PV syndrome; those with associated Tetralogy of Fallot (TOF) and with intact ventricular septum (which would later become IPVR) [4]. The observations from these rare reports (2/15 cases) are that presence of a ductus arteriosus to the MPA decompresses the branch PA and thereby reduce chances of airway compression.…”