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Pregled bibliografske jedinice broj: 1106522

Vascular Ehlers-Danlos syndrome – case report


Slišković, Ana Marija; Šutalo, Ana; Huljev Frković, Sanda; Crkvenac Gregorek, Andrea; Banfić, Ljiljana; Vrkić Kirhmajer, Majda
Vascular Ehlers-Danlos syndrome – case report // : Cardiol Croat. 2021 ; 16(1-2):74
Virtualni kongres: Medical Publishing, d.o.o., 2021. str. 74-74 doi:10.15836/ccar2021.74 (poster, domaća recenzija, prošireni sažetak, stručni)


CROSBI ID: 1106522 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Vascular Ehlers-Danlos syndrome – case report

Autori
Slišković, Ana Marija ; Šutalo, Ana ; Huljev Frković, Sanda ; Crkvenac Gregorek, Andrea ; Banfić, Ljiljana ; Vrkić Kirhmajer, Majda

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, prošireni sažetak, stručni

Izvornik
: Cardiol Croat. 2021 ; 16(1-2):74 / - : Medical Publishing, d.o.o., 2021, 74-74

Skup
13. kongres Hrvatskoga kardiološkog društva s međunarodnim sudjelovanjem

Mjesto i datum
Virtualni kongres, 10. do 13. 12. 2020. / 21. do 24. 01. 2021

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
Ehlers-Danlos syndrome, celiprolol, collagen

Sažetak
Introduction: Vascular Ehlers-Danlos syndrome (vEDS) is considered the most severe form of EDS because of its typical life-threatening complications in young adults: spontaneous rupture of arteries, uterus or intestine1 . The prevalence of vEDS is at least 1:200.000. It is associated with autosomal dominant mutation in COL3A1 gene, which encodes pro-alpha 1 chains of type III collagen. The median life expectancy is 48 to 51 years. The beneficial role of celiprolol in reduction of arterial complications has been described, and the mechanisms may be related to reduction of hemodynamic stress and by upregulation of collagen synthesis via transforming growth factor-β2, 3. Case report: A 26-year-old man was referred with long history of serious vascular complication. From early childhood he was prone to spontaneous bruising. At the age of 7, after minor trauma, he had a duodenal hematoma. Hemophilia was ruled out. In 2014, urgent nephrectomy was done because of spontaneous rupture of right renal artery. Calf varicose veins were treated with foam sclerotherapy in 2016. In 2017, urgent femoro-femoral bypass was performed due to spontaneous rupture of the left common iliac artery (CIA) and failure to repair extremely vulnerable CIA wall. Several months later hybrid vascular procedure was done due to spontaneous dissection of right external iliac artery. Early postoperative course was complicated by spontaneous pneumothorax. His physical appearance was also suggestive to vEDS: thin skin, characteristic facial appearance (thin lips, small chin, thin nose, prominent eyes with dark circles), small joints hypermobility. Molecular genetic testing in 2019 confirmed vEDS: our patient is heterozygous for COL3A1c.1149+2_1149+51del. His current medical therapy includes vitamin C and tolerable dose of celiprolol. For the last three years he is without new adverse vascular events. Conclusion: Accurate diagnosis, genetic consulting, avoiding high risk activities and procedures are crucial in patients with vEDS. Endovascular or surgical intervention are mainly reserved for urgent complications of arterial or organ rupture. Celiprolol, a beta blocker with a unique pharmacologic profile, demonstrated a promising role in reduction of vascular complication in vEDS.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

Slišković, Ana Marija; Šutalo, Ana; Huljev Frković, Sanda; Crkvenac Gregorek, Andrea; Banfić, Ljiljana; Vrkić Kirhmajer, Majda
Vascular Ehlers-Danlos syndrome – case report // : Cardiol Croat. 2021 ; 16(1-2):74
Virtualni kongres: Medical Publishing, d.o.o., 2021. str. 74-74 doi:10.15836/ccar2021.74 (poster, domaća recenzija, prošireni sažetak, stručni)
Slišković, A., Šutalo, A., Huljev Frković, S., Crkvenac Gregorek, A., Banfić, L. & Vrkić Kirhmajer, M. (2021) Vascular Ehlers-Danlos syndrome – case report. U: : Cardiol Croat. 2021 ; 16(1-2):74 doi:10.15836/ccar2021.74.
@article{article, author = {Sli\v{s}kovi\'{c}, Ana Marija and \v{S}utalo, Ana and Huljev Frkovi\'{c}, Sanda and Crkvenac Gregorek, Andrea and Banfi\'{c}, Ljiljana and Vrki\'{c} Kirhmajer, Majda}, year = {2021}, pages = {74-74}, DOI = {10.15836/ccar2021.74}, keywords = {Ehlers-Danlos syndrome, celiprolol, collagen}, doi = {10.15836/ccar2021.74}, title = {Vascular Ehlers-Danlos syndrome – case report}, keyword = {Ehlers-Danlos syndrome, celiprolol, collagen}, publisher = {Medical Publishing, d.o.o.}, publisherplace = {Virtualni kongres} }
@article{article, author = {Sli\v{s}kovi\'{c}, Ana Marija and \v{S}utalo, Ana and Huljev Frkovi\'{c}, Sanda and Crkvenac Gregorek, Andrea and Banfi\'{c}, Ljiljana and Vrki\'{c} Kirhmajer, Majda}, year = {2021}, pages = {74-74}, DOI = {10.15836/ccar2021.74}, keywords = {Ehlers-Danlos syndrome, celiprolol, collagen}, doi = {10.15836/ccar2021.74}, title = {Vascular Ehlers-Danlos syndrome – case report}, keyword = {Ehlers-Danlos syndrome, celiprolol, collagen}, publisher = {Medical Publishing, d.o.o.}, publisherplace = {Virtualni kongres} }

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