REGULAR GENETIC COUNSELING AND DNA-DIAGNOSTICS OF MARFAN SYNDROME IN THE WORK OF FEDERAL SURGERY INSTITUTION

Abstract

Aim. To invent a complex approach to patients with “marfanoid phenotype” undergoing surgery, applying the DNA-diagnostics of the gene FBN1 and medical genetic counseling.Material and methods. In the group of 37 patients with suspected Marfan syndrome we conducted analysis of coding exones and attached enthrones of the gene FBN1 with highly performing sequencing on platform IonTorrent.Results. After mutation screening in the sequences of gene FBN1, in 25 patients we confirmed the Marfan syndrome, and four of genetic mutation carriers did not have complete Ghent criteria. All genetic variants were analyzed and were applied at the stage of surgery planning for maximum radical result of surgical treatment and for medical genetic counseling of the families.Conclusion. The analysis performed, of clinical presentation, surgery indications and spectrum of post-operation complications in Marfan syndrome patients.

Keywords

• marfan syndrome
• aortic aneurysm
• infundibular chest deformity
• spontaneous pneumothorax
• fbn1
• dna-diagnostics