Fatal Rupture of an Unusual Sinus of Valsalva Aneurysm With Inconclusive Genetic Findings

A Sinus of Valsalva aneurysm (SOVA) is a rare cardiac abnormality that involves the dilation or bulging of the aortic sinus(es). The symptoms of SOVA can be subtle and nonspecific, making the aneurysm difficult to detect before a possible rupture. When these aneurysms rupture, they are often fatal. In this case report, we present the sudden and unexpected death of a 36-year-old previously healthy male with no prior clinical history. Postmortem examination was notable for the unexpected finding of a multisinus SOVA with an atypical rupture into the pericardial sac resulting in a significant hemopericardium. An Arrhythmia and Cardiomyopathy and Aortopathy panel (Invitae Corp.) next-generation sequencing genetic testing was performed and revealed variants of unknown significance (VUS). This case report highlights an unusual presentation of SOVA in a young adult male and reviews the literature associated with this rare cardiac pathology entity. We also bring attention to the interpretation of ambiguous postmortem genetic testing results, including the importance of consent, cost, and access to genetic counseling. Postmortem genetic testing influences the living relatives of a decedent, and the autonomy of these individuals should be considered.