Summary

Ellis–van Creveld syndrome (EvC) is a rare autosomal recessive chondroectodermal dysplasia, associated with mutations in the EVC1 and EVC2 genes (4p16). The management of EvC is multidisciplinary, and early diagnosis is of the utmost importance for efficient and timely treatment. The main prognostic determinant is presence of a heart defect. The authors describe the case of a 42-year-old man referred to our outpatient cardiology clinic, following surgical repair of an atrial septal defect. He had presented to different medical specialties on numerous occasions since childhood, but remained without a clear diagnosis for more than 40 years. This case reinforces the need for a holistic view when assessing a patient with congenital heart disease. Moreover, this illustrates the importance of communication and discussion between different medical specialties.