Rupture of Splenic Artery Aneurysm in Patient with ACTN2 Mutation

Here, we report a case of splenic artery aneurysm rupture in patient with known heterozygosity mutation the ACTN2 gene (variant c.971G > A p.Arg324Gln). The came to our emergency department epigastric pain radiating lumbar area, an absence peritonism signs. An abdominal computed tomography angiography showed ruptured huge (5 cm) aneurysm. Therefore, underwent endovascular coil embolization complete exclusion. postoperative course was uneventful, until day five when developed symptomatic supraventricular tachycardia echocardiographic alterations. signs and symptoms disappeared after three days medical management. discharged on 14th good clinical condition under verapamil anti-platelet therapy. Although associated cardiac peripheral vascular disease occurrence, best knowledge, present is first visceral (splenic) directly linked this rare mutation.