Vanessa F Schmidt, Friedrich G Kapp, Constantin Goldann, Linda Huthmann, Beatrix Cucuruz, Richard Brill, Veronika Vielsmeier, Caroline T Seebauer, Armin-Johannes Michel, Max Seidensticker, Wibke Uller, Jakob B W Weiß, Alena Sint, Beate Häberle, Julia Haehl, Alexandra Wagner, Johanna Cordes, Annegret Holm, Denny Schanze, Jens Ricke, Melanie A Kimm, Walter A Wohlgemuth, Martin Zenker, Moritz Wildgruber
BACKGROUND: We aimed to correlate alterations in the rat sarcoma virus (RAS)/mitogen-activated protein kinase pathway in vascular anomalies to the clinical phenotype for improved patient and treatment stratification. METHODS AND RESULTS: This retrospective multicenter cohort study included 29 patients with extracranial vascular anomalies containing mosaic pathogenic variants (PVs) in genes of the RAS/mitogen-activated protein kinase pathway. Tissue samples were collected during invasive treatment or clinically indicated biopsies...
April 2, 2024: Journal of the American Heart Association