Authors: Adel Ekladious.
24-year-old woman presented to our hospital with chest pain, new ECG changes and high troponin suggestive of non-ST Myocardial infarction, patient gave history of another two heart attacks at the age of 20 and 21, on both occasions, she was treated with angioplasty and no stenting.
Her past medical history was significant for recurrent meniscal tear on both knees which was treated conservative, when patient was 15-year-old, she was diagnosed as carotid–cavernous fistula and Treated with endovascular therapy, her family history was noted for her sister having small bowel rupture at the age of 18 year, her brother had two strokes at the age of 18 and 19, patient also was known to have recurrent dislocation of right shoulder and delayed wound healing.
Examination showed scattered bruising, blue sclera, hyperelasticty of skin over elbow joints, MRA of whole body showed aneurysm of both internal iliac vessels, coronary CT showed aneurysm in the left anterior descending and right coronary arteries, differential diagnosis was discussed with the patient who gave a consent for genetic study which came positive for COL3A1 and confirmed the diagnosis of Vascular Ehlers Donals Syndrome (formally called Ehlers Donals Syndrome type 4).
Patient agreed for genetic counselling, and first-degree family agreed for genetic testing, in the article we will report the case and discuss the differential diagnosis
View/Download pdf