Publications by authors named "Mohamed Megzari"
Egypt Heart J
September 2024
Article Synopsis
- - Holt-Oram syndrome is a rare genetic disorder linked to mutations in the TBX5 gene, characterized by skeletal and heart abnormalities, particularly affecting cardiac prognosis.
- - A case study of a 49-year-old patient revealed signs of congestive heart failure along with physical malformations like thumb triphalangia and scoliosis, leading to the discovery of an atrial septal defect through testing.
- - Diagnosis involves genetic testing for TBX5 mutations, and family screening is important due to its autosomal dominant inheritance pattern, emphasizing the need for awareness of upper limb anomalies associated with heart issues.
