EFEMP2 and Takayasu arteritis: Herein, we firstly reported an ARCL1B case with severe respiratory and heart failure as the primary manifestation in the Chinese population, who was initially misdiagnosed as Takayasu’s arteritis and finally confirmed by genetic test revealing a homozygous mutation of c.464A>C p. (Tyr155Ser) in exon 5 of the EFEMP2 gene, which had never been reported before.