Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene

The <i>EFEMP2</i> gene mutation identified in this patient has not been previously reported, expanding the mutation spectrum of the gene. This is the first documented case of this disease in the Chinese population. The diagnostic and therapeutic journey of this patient, along with the accompanying literature review, provides valuable insights. It highlights the importance of clinicians maintaining a high level of vigilance when encountering cases involving younger patients with multiple pulmonary artery aneurysms, as they may indicate the presence of this rare disease.