Abstract
Introduction: Absent Pulmonary Valve Syndrome - APVS is a rare congenital heart disease that in its most frequent forms, is often associated with Tetralogy of Fallot - TOF, offering it an overall poor prognosis. Today’s presentation however focuses on the ultrasound findings around a non Fallot, isolated APVS, diagnosed antenatally with a different genetic heritage than what would be expected. Methods: We present the clinical case of a 31 year old primigravida without any particular health issues, who benefited of a detailed fetal echocardiography after the second trimester ultrasound performed at 20 weeks of gestation revealed the following isolated cardiac anomalies asymmetrical cardiomegaly and RVOT modified outflow; an absent pulmonary valve syndrome was brought into discussion.
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