Abstract
We report a case of fetal Loeys-Dietz syndrome clinically diagnosed by ultrasonography born to a 33-year-old Japanese primiparous woman without any medical or family history of cardiovascular diseases. At 26 weeks of gestation, fetal echocardiography demonstrated marked dilatations of the aortic annulus and ascending and descending aorta with aortic regurgitation, and a tortuous descending aorta. Severe pulmonary arterial dilatations of the supra-valvular region and main trunk with pulmonary regurgitation were also observed. Fetal cardiac insufficiency including cardiomegaly, pericardial effusion, subcutaneous edema, and ascites developed, and Caesarean section was performed at 31 weeks of gestation. The baby was a 2,262 g (+3.11 SD) male with 1/5-min Apgar scores of 1/3 points, respectively, and his height was 45.0 cm (+1.91 SD). Umbilical arterial blood gas analysis showed pH of 6.860, B.E. of -17.8 mmol/L, and lactate of 7.2 mmol/L, indicating metabolic acidosis. Arachnodactyly, cleft palate/uvula, and arthrogryposis were not observed. He died 21 days after birth due to congestive heart failure. Chromosomal analysis revealed normal karyotype of 46, XY. Genetic diagnosis was not performed because consent was not obtained from the parents. We made a diagnosis of Loeys-Dietz syndrome based on the findings that cardiac insufficiency deteriorated during the fetal and neonatal periods because of severe marked dilation of the bilateral great vessels with regurgitations and a tortuous descending aorta, and characteristic superficial findings of Marfan syndrome were not detected. It is necessary to consider neonatal Marfan syndrome and Loeys-Dietz syndrome when seeing findings such as those in this case. It is expected that the consequence of Loeys-Dietz syndrome detected in the fetal period will be very severe. Prenatal genetic diagnosis will enable us to explain the neonatal consequence.
