BACKGROUND: Ehlers-Danlos syndrome (EDS) is a hereditary collagen vascular disorder characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Vascular EDS (vEDS) is a subtype of EDS which is characterized by vascular fragility.
METHODS: This is a case report of a young man with vEDS hospitalized for myocardial infarction. He was presented with a coronary dissection and developed aortic dissection, coronary rupture, and cardiac tamponade until death.
CONCLUSIONS: This case report highlights how patients with vEDS and acute coronary syndrome show a higher risk of vascular complications compared with other patients, and their admission to the institution with a cardiac surgery room could be helpful and safe for better management of the complications. Non-invasive methods could be useful to exclude other vascular diseases, before the emergency coronary intervention.

This report describes a unique case of vascular Ehlers-Danlos syndrome (vEDS) characterized by multiple spontaneous direct carotid-cavernous sinus fistulas (CCF). The patient initially presented with ocular symptoms and was effectively treated with transarterial coil embolization. Five years later, the patient developed recurrent contralateral CCF that required complex endovascular techniques. Genetic testing identified a novel mutation in the COL3A1 gene, confirming the diagnosis of vEDS. This case report provides a near-term perspective on the identification of structural abnormalities in the COL3A1 protein to ensure the safety of endovascular therapy for patients with vEDS.

We have described a case of multiple surgeries for a ruptured popliteal artery in an 11-year-old female patient with vascular Ehlers-Danlos syndrome. She underwent emergency hematoma evacuation and ruptured popliteal artery interposition with the great saphenous vein graft, which was notably fragile during surgery and had ruptured on the seventh postoperative day. We performed another emergency hematoma evacuation and popliteal artery interposition with an expanded polytetrafluoroethylene vascular graft. Despite the early occlusion of the expanded polytetrafluoroethylene graft, she recovered with mild intermittent claudication in the left lower extremity and was discharged on postoperative day 20 after the first surgery.

BACKGROUND: Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders of altered collagen synthesis. People with vascular EDS are at increased risk for vascular and hollow viscous rupture. Heavy menstrual bleeding (HMB) is common among adolescents with EDS. The levonorgestrel intrauterine device (LNG-IUD) is an effective treatment option for HMB; however, its use in patients with vascular EDS has historically been avoided due to perceived risk of uterine rupture. This is the first known case report on use of the LNG-IUD in an adolescent with vascular EDS.
METHODS: A 16-year-old female with vascular EDS and HMB underwent placement of the LNG-IUD. Placement of the device was performed in the operating room under ultrasound guidance. At the 6-month follow-up, the patient reported significant improvement in bleeding and high satisfaction. No complications were identified at the time of placement or follow-up.
CONCLUSIONS: LNG-IUD may be a safe and effective option for menstrual management in individuals with vascular EDS.

UNASSIGNED: 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.
METHODS: 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.
UNASSIGNED: 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.

Takayasu arteritis (TAK) is a rare primary systemic inflammatory vasculopathy. It is classified as a large-vessel vasculitis and is known to cause inflammatory aneurysms and vascular stenosis. Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant condition known to cause multiple aneurysms and arterial dissection at a young age owing to a mutation in the gene for type III collagen, COL3A1. Here, we present a case of TAK associated with vEDS with the development of multi-organ infarction of the brain, kidney, and spleen owing to multiple arterial aneurysms and stenosis of the internal carotid artery. The patient was successfully treated using anti-inflammatory agents, glucocorticoids, and tocilizumab with the addition of interventional radiology. In our case, a high inflammatory response led to vasculitis being the main cause of the disease with concurrent vEDS. When patients develop multiple aneurysms, stenosis, and dissections leading to multiple organ infarctions, a systemic differential diagnosis to consider concurrent vasculitis syndrome and non-inflammatory vasculopathy, including hereditary disorders, is important even with time constraints.

Ehlers-Danlos syndrome is a rare genetic disorder that presents with a variety of pathologies depending on the disease type. Among them, vascular Ehlers-Danlos syndrome requires extremely careful management as there have been many reports of fatal perinatal complications such as uterine rupture. Although hypermobile Ehlers-Danlos syndrome is less likely to cause fatal complications, symptoms such as arthralgia, hip dislocation, and depression may be seen throughout pregnancy. We report here a case of twin pregnancy in which Ehlers-Danlos syndrome was first suspected at 19 weeks of gestation. Vascular Ehlers-Danlos syndrome could not be ruled out based on family medical history, making it difficult to determine the perinatal management strategy. Prompt genetic testing did however rule out the vascular type and the patient was diagnosed with hypermobile Ehlers-Danlos syndrome from the clinical symptoms, enabling us to manage the pregnancy safely until 34 weeks of gestation.

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant hereditary collagen disease caused by a defect or deficiency in the pro-α1 chain of type III procollagen encoded by the COL3A1 gene. Patients with vEDS rarely present with multiple pneumothoraces. The clinical features of this disease are not familiar to clinicians and are easily missed. We report a patient with a novel missense mutation in the COL3A1 gene (NM_000090.3: c.2977G > A) and hope to provide clinicians with valuable information.
METHODS: We reported the case of a young man presenting with frequent episodes of pneumothorax and intrapulmonary cavities and nodular lesions without arterial or visceral complications. His skin was thin and transparent, and the joints were slightly hypermobile. Whole-exome sequencing (chip capture high-throughput sequencing) revealed a heterozygous missense mutation in exon 41 of the COL3A1 gene (NM_000090.3: c.2977G > A), confirming the diagnosis of vEDS. vEDS remains a very rare and difficult diagnosis to determine.
CONCLUSIONS: When a patient presents with recurrent pneumothorax, intrapulmonary cavities and nodular lesions, thin and transparent skin, and hypermobile joints, clinicians should consider the diagnosis of vEDS.

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a vascular disease associated with a genetic collagen abnormality. It is characterized by vessel fragility, vessel rupture, and massive hemorrhage. Carotid-cavernous fistula (CCF) is the most frequent neurovascular complication of vEDS. However, CCF treatment using conventional diagnostic angiography and neuroendovascular therapy can result in a high rate of major complications.
METHODS: We report a case of a right CCF in a 48-year-old man with vEDS. The carotid artery and jugular vein were exposed by direct neck dissection. To avoid systemic vascular complications, multiple catheters were inserted into the shunt segment via the carotid artery and jugular vein. This transarterial and transvenous multidevice technique enabled compact placement of coils in the shunt segment. The CCF was eliminated via selective shunt occlusion. Postoperative magnetic resonance imaging revealed occlusion of the right CCF.
CONCLUSIONS: Selective shunt occlusion via a transarterial and transvenous multidevice technique is a useful and safe approach for treating vEDS-associated CCF.

UNASSIGNED: Patients with vascular Ehlers-Danlos syndrome (EDS) are susceptible to significant vascular complications, such as aortic and visceral arterial ruptures, aneurysms, and dissection. We describe a case of repeated bleeding in a 57-year-old woman and a case of sudden onset of artery dissection in her daughter, both of whom were previously diagnosed with vascular EDS and managed at our institution.
UNASSIGNED: A 57-year-old woman was admitted to our emergency department due to sudden onset of left low back pain. Her past history included vascular EDS. An urgent abdominal computed tomography (CT) scan revealed a left-sided retroperitoneal hematoma and left external iliac artery dissection. Stent graft repair was performed. Five hours postoperatively, cardiac arrest occurred and resuscitation attempts failed. The 32-year-old daughter with genetically diagnosed vascular EDS was notified of the death of her mother during the customary end-of-life conference. Six hours after her mother\'s death, she was admitted to our emergency department due to sudden onset of left low back pain. On examination, she was not in hypovolemic shock, and weak pulses were palpable in the bilateral dorsalis pedis. An urgent abdominal CT scan revealed a right-sided retroperitoneal hematoma around the right external iliac artery and left external iliac artery dissection. She was admitted to the intensive care unit and underwent conservative therapy consisting of bed rest and antihypertensive therapy with nicardipine. She developed no further vascular complications requiring surgical intervention and was discharged on the 21st hospital day.
UNASSIGNED: Vascular rupture can be fatal in patients with vascular EDS. This report underscores the importance of strategic management of vascular complications to prevent rupture, and the importance of psychological care for the bereaved family given the hereditary nature of vascular EDS.