1Department of Obstetrics and Gynecology, Kumamoto City Hospital, 2Department of Neonatology, Kumamoto City Hospital, 3Department of Pediatric Cardiology, Kumamoto City Hospital, 4Kurume University Hospital Maternal and Perinatal Medical Center
胎児Loeys-Dietz症候群と臨床的に診断した症例を経験したので報告する．33歳の初妊初産婦．特記すべき既往歴，家族歴はなかった．妊娠26週1日に大動脈の弁直上の著明な拡張と弁逆流，上行・下行大動脈の拡張と下行大動脈の蛇行所見，肺動脈弁直上の著明な拡張と弁逆流を認めた．心嚢液貯留，全身の皮下浮腫，腹水貯留が出現し，妊娠31週3日に帝王切開分娩となった．胎児期には重症な動脈弁逆流と大動脈逆流を合併した胎児心不全と診断したが，Marfan類縁疾患との明確な診断には至らなかった．出生時体重2,262 g （＋3.11 S.D）の男児，身長は45.0 cm（＋1.91 S.D.），Apgar scoreは1分値が1点，5分値3点であった．クモ状指，口蓋裂，二分口蓋垂や関節拘縮は認めず，心臓超音波検査では出生前と同様の所見を認めた．心不全状態の進行により21生日に死亡した．染色体検査では正常核型であった．遺伝子検査については両親の同意が得られなかった．本症例のように胎児期より両大血管起始部の拡張所見を認めるような症例では結合組織の脆弱性に起因する疾患である新生児Marfan症候群に加えてLoeys-Dietz症候群を念頭において周産期管理を行う必要がある．胎児発症のLoeys-Dietz症候群は非常に予後の悪いことが予想され，出生前から遺伝子診断を勧めることで出生後の予後説明が可能となる．
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.