Multisystem Caliber-Persistent Arteriopathy Syndrome: A Novel Congenital Vasculopathy Associated with a Risk of Multiorgan Hemorrhage

Abstract

<title>Abstract</title> This study delineates a novel multisystem caliber-persistent arteriopathy syndrome, fundamentally redefining the classical Dieulafoy's lesion from a localized gastrointestinal anomaly to a systemic congenital vasculopathy. Through integrated histopathological and genomic analysis of a forensic autopsy case, we identified pervasive arterial remodeling across seven organ systems— characterized by absent physiological tapering— indicating developmental angiogenic dysregulation. Whole-genome sequencing uncovered pathogenic variants in <italic>PDE8B</italic> , <italic>LRCH1</italic> , and <italic>ADA</italic> genes, with functional enrichment analyses implicating dysregulated purine–cAMP signaling and cytoskeletal organization as core pathogenic mechanisms. These findings establish a genetic basis for the observed pan-vascular phenotype and highlight the necessity of systematic vascular screening in cases of unexplained multiorgan hemorrhage. This work provides a foundational framework for diagnosing and investigating congenital vascular malformations with hemorrhagic risk, urging a paradigm shift in clinical evaluation and etiological assessment.

Affiliated Institutions

• Lishui Maternity and Child Health Care Hospital CN
• Jiaxing University CN
• WinnMed US

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