RESUMO
We report on a pair of monozygotic twins with persistent truncus arteriosus. They had no evident clinical signs of DiGeorge syndrome. Pathologic examination of the placenta and DNA analysis in chromosomes 7, 8, and 15 was consistent with monozygosity. Fluorescence in situ hybridization test was negative for chromosome 22q11 microdeletion. Family history revealed a female cousin with tetralogy of Fallot. The isolated presence of this conotruncal abnormality in monozygotic twins is extremely rare. The genetic considerations are discussed.
Assuntos
Doenças em Gêmeos/genética , Persistência do Tronco Arterial/patologia , Gêmeos Monozigóticos , Feminino , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Masculino , Linhagem , Persistência do Tronco Arterial/enzimologiaRESUMO
Plasma renin activity was estimated in 11 infants with severe congestive heart failure. The infants had congenital heart disease with left to right shunts and were receiving diuretic treatment. Plasma renin activity was measured by radioimmunoassay of generated concentrations of angiotensin I. The mean (SD) plasma renin activity was 84 (21) ng angiotensin I/ml/hour, which is considerably above normal infant values. A hyperactive renin-angiotensin system may be detrimental in these patients. Angiotensin converting enzyme inhibitors may be of value in treating infants with severe congestive heart failure.
