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