HOLT-ORAM SYNDROME-SIGNIFICANCE OF EARLY DIAGNOSIS

Abstract

Introduction: Holt-Oram syndrome (HOS) is a genetic syndrome. It is inherited autosomally dominantly. The disease is caused by a mutation in the TBX5 gene (T-box) on the long arm of chromosome 12 (12q24.1), important for the development of the heart and upper extremities. The incidence is 1:100,000 newborns and is a rare disease. It is characterized by malformations of the upper extremities-hand dysplasia (lack of the thumb, triphalangeal thumb, inability to position the thumb) and a defect of the radius or ulna, exceptionally with phocomelia. The expression of certain symptoms in the spectrum of the clinical picture of Holt-Oram syndrome is more pronounced if the mother is a carrier of the mutation. Heart defects are described along with Holt-Oram syndrome. The most common heart defect is atrial septal defect (ASD).

Case report: The paper presents a nine year-old boy who was admitted to the Children 's Department in the Zajecar  for examination of small stature. On clinical examination, in addition to small growth, a characteristic phenotype is observed. He has a deformity of the thumb of his right hand and hypoplasia of the radius. Systolic murmur is registered on the heart by auscultation. The diagnosis of Holt-Oram syndrome has been confirmed. Ultrasound examination of the heart revealed atrial septal defect (ASD). The parents refuse the proposed heart surgery.

Conclusion: The role of the neonatologist is to suspect a possible heart defect in the case of anomalies of the thumb or upper extremities and to refer parents to further multidisciplinary testing, which includes molecular genetic testing. Timely professional assistance to parents already in the maternity hospital, with reference to quality multidisciplinary examination and monitoring, is the basis of modern care for newborns born with a rare disease.