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

Abstract

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 on English-language articles published between 2010 and 2024, specifically case reports and small series. Search terms "Hereditary Hemorrhagic Telangiectasia", "Osler-Weber-Rendu syndrome" and "Juvenile Polyposis" were used. Exclusion criteria included population studies lacking detailed individual characteristics related to Hereditary Hemorrhagic Telangiectasia (HHT) or Juvenile Polyposis (JP). Duplicate articles were removed, and data were extracted on patient demographics, clinical presentations, diagnostic criteria (Curaçao criteria for HHT, Jass criteria for JP), treatments, and outcomes.

Results: Fifty-six individuals with the MADH4 mutation met the inclusion criteria and were compared to our patient. The age range of the total cohort of fifty-six participants spanned from 6 to 66 years, with a distribution between men and women. The typical clinical presentation of HHT-JP was observed in most cases. Notably, only one patient from previous literature exhibited aortic dissection, aligning with our patient's presentation. Additionally, three other patients had aortic aneurysms. Musculoskeletal and other cardiovascular anomalies were also identified and described.

Discussion: While aortic aneurysms prevail in HHT-JP syndrome, aortic dissection cases are extremely rare. This case highlights the need for vigilant screening to identify aortic anomalies in this specific patient subset, emphasizing the severe complications associated with this syndrome combination.

Keywords: Aortic dissection; Collagen diseases; Genetic syndromes; Juvenile polyposis syndrome; MADH4 gene mutation; Osler-Weber-Rendu syndrome; Vascular malformations.