Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis

Ann Biol Clin (Paris). 2023 May 16;81(2):204-209. doi: 10.1684/abc.2023.1806.


Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of human serum albumin. Our data describe the clinical features and laboratory results of a case confirmed by mutation analysis of the albumin gene in a 35-year-old man presenting recurrent acute coronary syndrome. To the best of our knowledge, only two cases of coronary artery disease have been reported worldwide without recurrence. Our findings contribute to shed light on the clinical characteristics and biochemical parameters of this disease and confirm that cardiovascular complications must be taken seriously in this pathology. Mutational screening disclosed two novel compound heterozygous nucleotide variations located in intron 12 and in 3'UTR. The prediction of the functional and structural impact of the reported variations using different bioinformatics tools demonstrates that these genetics variations affect RNA transcription and mRNA folding.

Keywords: congenital analbuminemia; coronary thrombosis; in silico analysis; mRNA folding; nucleotide variations.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Coronary Thrombosis* / complications
  • Humans
  • Hypoalbuminemia* / complications
  • Hypoalbuminemia* / diagnosis
  • Hypoalbuminemia* / genetics
  • Male
  • Mutation
  • Nucleotides
  • Serum Albumin
  • Serum Albumin, Human / genetics
  • Young Adult


  • Serum Albumin
  • Nucleotides
  • Serum Albumin, Human