ABSTRACT
We report three pregnancies where enlarged nuchal translucency was discovered at the first trimester transvaginal ultrasound examination; congenital heart disease developed later. Two cases of hypoplastic left heart were diagnosed prenatally at the mid-trimester sonographic examination. The pregnancies were terminated. In the third case, a supravalvular pulmonary stenosis was discovered on the second day of life. Further investigations demonstrated a mutation on the elastin locus, thus confirming the diagnosis of Williams-Beuren syndrome. The role of nuchal translucency as a risk marker for congenital heart disease is discussed.
Subject(s)
Cardiomegaly/congenital , Neck/embryology , Williams Syndrome/congenital , Cardiomegaly/diagnostic imaging , Cardiomegaly/genetics , Elastin/genetics , Female , Fetal Proteins/genetics , Humans , Karyotyping , Mutation , Neck/diagnostic imaging , Pregnancy , Pregnancy Trimester, First , Ultrasonography, Prenatal , Williams Syndrome/diagnostic imaging , Williams Syndrome/geneticsABSTRACT
A heterotopic heart transplantation was performed on a patient placed on circulatory assistance with a Biomedicus pump for ten days using a heart taken from a donor with situs inversus. In relation to this case, the authors describe the technical procedures allowing transplantation of a heart obtained from a donor with situs inversus into a heterotopic position and an orthotopic position or a normal heart in a recipient with situs inversus. Lastly, in the case of complex cardiac malformations with preservation of the lungs, they present the procedures allowing heart transplantation in cases of situs incertus, anomalies of venous return and transposition of the great vessels.
