An adult patient with pulmonary atresia with ventricular septal defect and chromosome 17p13.3 microdeletion including YWHAE gene

Key Points

• The aim is to highlight a unique case of a patient with pulmonary atresia and a specific chromosome microdeletion.
• Detailed clinical assessment of the adult patient
• Genetic analysis identifying the 17p13.3 microdeletion
• Assessment of associated congenital heart defects
• Identification of pulmonary atresia with ventricular septal defect in the adult patient
• Confirmation of the 17p13.3 microdeletion involving the YWHAE gene
• Association of the microdeletion with neurodevelopmental disorder