To investigate the diagnostic characteristics of ultrasound and pathology on a case with pulmonary valve absence, tricuspid atresia, intact ventricular septum, patent ductus arteriosus and right ventricular dysplasia.

The ultrasonographic features and pathological findings of one case with pulmonary valve absence diagnosed prenatally in the ultrasound department, Hubei Maternal and Child Health Hospital on February 23, 2016 were retrospectively analyzed, and the literatures were reviewed.

Prenatal ultrasonography was performed at the maternal age of 27 and gestational age of 24.6W. Pulmonary valve absence was detected prenatally by ultrasound, bidirectional blood flow signals were detected at pulmonary valve and catheter, as well as bidirectional arterial spectrum and reversed venous catheter A wave. And the tricuspid valve was locked and the right ventricle was small. Diagnosis: tetralogy of Fallot (absence of pulmonary valve), right heart dysplasia. Pathological results: the heart, [S, D, S], [atrial orthotropy, right ventricular loop, normal position of the great artery], ductus arteriosus, absence of pulmonary valve, tricuspid atresia, right ventricular dysplasia. Microscopic structure: in free wall of right ventricle and right ventricle, loose connective tissue could be seen, part of which was surrounded by sinus structure, and a small amount of scattered cardiomyocytes could be seen. Left ventricular: normal myocardial structure. Pathological diagnosis: absence of pulmonary valve, tricuspid atresia and complete ventricular septum.

Tetralogy of Fallot with pulmonary valve absence, tricuspid atresia, complete ventricular septum and right ventricular dysplasia is rare . Mastering special anatomical, histological and hemodynamic characteristics is of guiding value for the correct diagnosis of this type of case.