SILENT KILLERS REVEALED: A CASE REPORT OF AORTIC DISSECTION AND ATHEROSCLEROSIS IN THE YOUNG

Abstract

Therapeutic Area: ASCVD/CVD in Special Populations Case Presentation: This is a case of a 39-year-old male non-smoker with a past medical history of hypertension and hyperlipidemia who presented to the ED in cardiac arrest. In the morning, the patient reported acute onset ripping chest pain and stroke-like symptoms. EMS was called and on transit to the ED, the patient arrested and died. On autopsy, the patient was found to have an aortic dissection (AOD) along with severe multivessel coronary artery disease (CAD) and hypertensive cardiomegaly. The patient's medical team suspected the cause of dissection to be hypertension. No genetic testing was ordered at the time of autopsy because this case occurred prior to the routine clinical use of Next-generation sequencing. 20 years later, the patient's son, a 35-year-old male with no known cardiovascular risk factors, developed acute onset chest pain with radiation to the back. Suspecting an episode of back pain, he took an NSAID and went back to sleep. He was found deceased the next morning. Autopsy revealed a ruptured ascending aortic aneurism, cardiomegaly, and severe multivessel CAD, all at the young age of 35.With a robust family history of early AOD and CAD, the hypothesis of a genetic origin emerged, specifically pointing towards non-syndromic hereditary thoracic aortic aneurysms and dissections (HTAD) with a possible ACTA2 mutation as the culprit. Background: The study of these two cases provides a framework for discussing the latest guidance outlined in the ''2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease,'' covering diagnosis, genetic evaluation, family screening, medical therapy, and long-term preventive surveillance.HTAD is thought to contribute to 20% of aortic aneurysms and dissections. ACTA2 mutations, affecting vascular smooth muscle cells, are linked to familial HTAD and premature CAD. Previous studies suggest a single gene mutation can lead to diverse vascular diseases, impacting management and prevention strategies. Conclusions: The tragic cases of a 39-year-old man and his 35-year-old son draw attention to the critical role of genetic evaluation in the identification, management, and prevention of HTAD. Ultimately, to better guide cardiovascular disease prevention, this case emphasizes the need for spreading awareness about current ACC/AHA HTAD guide.