Spontaneous uterine rupture revealing vascular Ehlers-Danlos syndrome: An uncommon case report

INTRODUCTION AND IMPORTANCE: Vascular Ehlers-Danlos syndrome also referred to as Ehlers-Danlos Type IV is an uncommon autosomal dominant genetic disorder linked to connective tissue abnormality. Its evolution is marked by the occurrence of severe vascular, digestive and obstetrical complications. The current case highlights the importance of early diagnosis and physician awareness about this disorder as it can improve the patient's prognosis. CASE PRESENTATION: We present the case of a 34-year-old woman, who presented at 36 weeks of amenorrhea with labor pain. The labor evolution was marked by an increased fluctuating abdominal pain, a sudden loss of the fetal station detected during cervical examination and decelerations to 60 beats per min, leading to an emergency caesarean section. During the laparotomy, the patient presented a spontaneous bilateral extension of the cutaneous incision requiring the realization of stopping stitches. The fetus and placenta had been expelled via a 9 cm long uterine wall rupture also known as an open book uterine rupture. A live male infant weighting 2890 g was promptly delivered and transported to NICU for respiratory distress. Physical features typical of EDS-IV allowed us to suspect this disorder and genetic analysis identified the presence of COL3A1 gene mutation, confirming the diagnosis. CLINICAL DISCUSSION AND CONCLUSIONS: Early recognition of Vascular Ehlers-Danlos syndrome is of paramount importance to improve the prognosis of affected patients, who often present themselves with life-threatening situations. Clinicians should maintain a high index of suspicion for the clinical signs of this inherited connective tissue disorder that is characterized by distinctive features.