Acute aortic dissection in a patient with Hereditary Hemorrhagic Telangiectasia associated with Juvenile Polyposis due to SMAD4 mutation: case report and literature review.

Abstract excerpt

OBJECTIVE: We present a novel case of concurrent Hereditary Hemorrhagic Telangiectasia-Juvenile Polyposis Syndrome (HHT-JP), resulting in a fatal aortic dissection. Given rarity of the case, we aimed to perform a comprehensive review of the existing literature to better characterize this clinical complication in this population. METHODS: We conducted a literature review on HHT-JP syndrome using PubMed, focusing...

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