Vascular Ehlers-Danlos syndrome

Vascular Ehlers-Danlos syndrome is an inherited connective-tissue disorder causing arterial and gastrointestinal fragility and spontaneous rupture of the large arteries, uterus, or bowel. Among arterial dissections and ruptures, spontaneous coronary artery dissection is extremely rare in this disorder. The specific therapeutic strategy for this disorder and its complications has not yet been established. In this report, we describe a 33-year-old woman with all three coronary artery spontaneous dissections, resulting in cardiogenic shock and therapy-resistant ventricular fibrillation. We could successfully complete revascularization of all three coronary arteries and terminate the life-threatening arrhythmia. Biochemical findings finally revealed a point mutation in the COL3A1 gene, consistent with a diagnosis of vascular Ehlers-Danlos syndrome. To the best of our knowledge, this is the first case of vascular Ehlers-Danlos syndrome causing all three coronary artery spontaneous dissections. Our case also suggests that, from vascular fragility even if it is spontaneous coronary dissection, physicians always consider connective-tissue disorders as a differential diagnosis at an early stage even though that would be a first complication, and percutaneous coronary intervention with stenting using intravascular ultrasound could be a strategic option for even repeated and fatal spontaneous coronary artery dissections in vascular Ehlers-Danlos syndrome.