• Sanda Huljev Frković, Ana Marija Slišković, Mia Toivonen, Andrea Crkvenac Gregore, Ana Šutalo, and Majda Vrkić Kirhmajer.
• Majda Vrkić Kirhmajer, Department of Cardiovascular Diseases, University Hospital Centre Zagreb, Kišpatićeva 12, 10000 Zagreb, majda _vrkic@yahoo.com.
• Croat. Med. J. 2022 Aug 31; 63 (4): 394-398.

AbstractDue to life-threatening complications, vascular Ehlers-Danlos syndrome (vEDS) is the most severe form of EDS. Because the syndrome is associated with a shortened life expectancy and variable clinical presentation, diagnosis confirmed by genetic testing is crucial to determining appropriate treatment. Despite some distinguishing features, this rare disease often goes unrecognized. Apart from surgical or endovascular treatment of serious vascular complications, medical treatment based on celiprolol helps reduce arterial complications. We report on a case of vEDS in a young man who suffered several episodes of severe vascular complications. The diagnosis of vEDS was established based on clinical manifestations and confirmed by genetic testing. A novel heterozygous pathogenic variant in the COL3A1 gene was found. To our knowledge, this is the first case of vEDS caused by this variant.

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