Множественные мальформации сердца у пациента с синдромом Холта—Орама

Holt—Oram syndrome is a rare genetic disease characterized by an abnormality of the upper limb, congenital heart disease and / or conduction abnormalities. The disease is caused by the mutations in the Tbox5 gene (allocation 12q24.21), inherited in an autosomal dominant manner. Heart septal defects and isolated thenar hypoplasia are typical congenital malformations. The article describes a clinical case of a 7-month-old girl with a family history of Holt—Oram syndrome: the absence of the first metacarpal bone of the left hand and multiple heart defects (atrial septal defect, multiple defects of the ventricular septum of the Swiss cheese type, aortic valve stenosis). The authors present a detailed clinical diagnosis of Holt—Oram syndrome, as well as genetic analysis and genetic testing of the child and immediate relatives.