EC Paediatrics

Introduction and Importance: Holt-Oram syndrome (HOS), is a rare dominant autosomal disorder of TBX5 gene, characterized by morphological abnormalities of the upper limbs occurring in association with abnormalities of the heart, and by then, all patients with this syndrome should be sent to genetic investigation and counseling to determine other family members at risk.

Case Presentation: We report a case of a 5-years-old boy to normal family, presenting with morphological and cardiac malformation which were indicators for Holt-Oram syndrome, therefore the diagnosis was confirmed by genetic consultation. The patient underwent successful surgical repair for the skeletal and cardiac malformation, completed uneventfully.

Clinical Discussion: Holt-oram syndrome is a rare congenital disorder with unknown causes. Most cases occur spontaneously.

Although autosomal dominate mode of inheritance has been reported, HOS maybe present in patient with normal family because of a new mutation. Our patient was born to non-consanguineous healthy parents, with four healthy sibling and he was the only member of his family had the presentations.

The diagnosis was confirmed by clinical presentation and genetic consultation, so he had holt-oram syndrome with a new mutation.

The patient underwent successful surgical repair, completed uneventfully.

Conclusion: HOS is a rare syndrome can maybe present in patient with normal family. Many anomalies of this syndrome can be cured by surgery and supportive treatments, so they should be sent to genetic counseling for the early diagnosis and to determine other family members at risk.

Keywords: Holt-Oram Syndrome; Hand-Heart Syndrome; T-BOX; ASD

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