[Congenitally absent pulmonary valve--analysis of ten prenatally diagnosed cases and review of the literature].
OBJECTIVE
To assess in a population of 10 fetuses diagnosed with absent pulmonary valve the incidence of associated cardiac extracardiac and chromosomal anomalies and the outcome of pregnancies.


METHODS
Retrospective analysis of data of prenatally diagnosed absent pulmonary valve cases between 1 January 1993 and 31 December 2005 in Fetal Echocardiography Laboratory of Ist Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary. The diagnosis was controlled with autopsy or postnatal examinations. The time of the prenatal diagnosis, indications, connected cardiac, extracardiac and chromosomal anomalies were studied.


RESULTS
Absent pulmonary valve was diagnosed prenatally in 10 pregnancies. The mean gestational age at the time of the diagnosis was 23.1 weeks (18-33 weeks). In 6 cases the malformation was diagnosed before the 24th gestational week, in 4 cases after the 24th gestational week. In 6 cases pregnancies were terminated. Fetal hydrops were found in 2 cases. Among 4 continued pregnancies one intrauterine fetal demise and two neonatal death occurred, one baby was successfully operated and survived. The Botallo duct was normally developed in five cases, in this group the absent pulmonary valve was isolated at 3 fetuses, at 1 fetus absent aortic valve and at 1 fetus tricuspid valve dysplasia were diagnosed. The Botallo duct was absent in five cases, in this group at 3 fetuses tetralogy of Fallot, at 1 fetus atrioventricular septal defect and at 1 fetus subaortic ventricular septal defect were diagnosed. Extracardiac malformations associated with cardiac abnormality at 3 fetuses. The indication for fetal echocardiography was positive family history in 3 cases, abnormal four chamber view in 2 cases, suspicion of thoracal cyst in 3 cases, fetal hydrops in 1 case, extracardiac malformation in 1 case.


CONCLUSIONS
The absent pulmonary valve is a severe malformation, the prognosis is poor and highly dependent on associated malformations. The correct early prenatal diagnosis is possible. The recurrence risk is higher than in multifactorial inheritance.
Semmelweis Egyetem, Altalános Orvostudományi Kar I. Szülészeti és Nogyógyászati Klinika Budapest Baross utca 27. 1088. hajdu@noi1.sote.hu
Júlia
J
Hajdú
Barbara
B
Pete
Agnes
A
Harmath
Artúr
A
Beke
Csaba
C
Papp
Zsanett
Z
Szigeti
Zoltán
Z
Papp
D001344:Autopsy; D002869:Chromosome Aberrations; D004452:Echocardiography; D005260:Female; D005313:Fetal Death; D005865:Gestational Age; D006343:Heart Septal Defects / Q000175:diagnosis; D006349:Heart Valve Diseases / Q000151:congenital* / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D018633:Pulmonary Atresia / Q000175:diagnosis; D011664:Pulmonary Valve / Q000002:abnormalities*; D012189:Retrospective Studies; D013771:Tetralogy of Fallot / Q000175:diagnosis; D016216:Ultrasonography, Prenatal