Abstract

OBJECTIVE--To examine the relation between a characteristic form of left ventricular dysfunction in the fetus and abnormalities of the aortic valve and endocardial fibroelastosis of the left ventricle. DESIGN--A retrospective study to examine the correlation between echocardiographic findings in the fetus and postnatal or necropsy findings. SETTING--Tertiary referral centre for fetal echocardiography. PATIENTS--Thirty fetuses showing a characteristic echocardiographic picture of left ventricular dysfunction. MAIN OUTCOME MEASURES--The relation between the prenatal echocardiographic features and the postnatal and necropsy findings. RESULTS--At presentation the size of the left ventricular cavity was normal or enlarged in all cases. The measurements of the orifice of the aortic root and mitral valve were either normal or small for the gestational age. The echocardiographic diagnosis made at presentation was critical aortic stenosis in all cases. At necropsy or postnatal examination the aortic valve was dysplastic and stenotic in 15 cases and the left ventricle had become hypoplastic in one of these. Aortic atresia was present in seven patients, three of whom had a hypoplastic left ventricle. In six patients the aortic valve was bicuspid although not obstructive. One of these patients had hypoplasia of the aortic arch and one had a hypoplastic left ventricle but in the remaining four patients endocardial fibroelastosis of the left ventricle was the only abnormality found. No follow up information was available in two. Of 26 patients for whom there was postmortem information, 24 had evidence of some degree of endocardial fibroelastosis of the left ventricle. Sequential observations showed that five cases developed into the hypoplastic left heart syndrome. CONCLUSIONS--This type of left ventricular dysfunction in the fetus is the result of an overlap of diseases, including primary left ventricular endocardial fibroelastosis, critical aortic stenosis, and the hypoplastic left heart syndrome.