Ehlers-Danlos type IV in pregnancy with a history of myocardial infarction.
Ehlers-Danlos syndrome (EDS) type IV is an autosomal dominantly inherited connective tissue disorder caused by abnormal type III collagen resulting from heterogenous mutations of the type III procollagen gene (COL3A1). The maternal mortality rate per pregnancy in EDS type IV has been reported as 11.5% to 25%. A 30-year-old Japanese primiparous woman, with a brother who had suffered a bowel rupture due to EDS type IV, became pregnant. She also suffered from myocardial infarction due to coronary artery dissections at 24 years old, and underwent coronary artery bypass grafting. Due to uncontrollable uterine contractions, beta 2-stimulants were administered during 18 to 29 weeks of gestation. Therefore, we performed a cesarean section at 29 weeks of gestation to prevent uterine rupture. She and her baby were discharged without any complications. It was revealed that she had the same mutation as her brother, Gly220Trp, in the (Gly-X-Y)n repeat of the triple-helical domain of COL3A1.
Ohkuchi
Akihide
A
Department of Obstetrics and Gynecology, Jichi Medical University School of Medicine, Shimotsuke-shi, Japan. okuchi@jichi.ac.jp
Matsubara
Shigeki
S
Takahashi
Kayoko
K
Inoue
Soichiro
S
Saito
Tsutomu
T
Mitsuhashi
Takeshi
T
Yamagata
Takanori
T
Takahashi
Naoto
N
Watanabe
Atsushi
A
Shimada
Takashi
T
Suzuki
Mitsuaki
M
D000328:Adult; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000401:mortality; D005260:Female; D006801:Humans; D008428:Maternal Mortality; D009203:Myocardial Infarction / Q000150:complications*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000401:mortality; D014597:Uterine Rupture / Q000517:prevention & control