Most patients with LEOPARD syndrome (L-lentigines, E-electrocardiographic conduction defects, O-ocular hypertelorism, P-pulmonary stenosis, A-abnormalities of genitalia, R-retardation of growth, D-deafness) seem to lead a relatively normal life, cardiomyopathy being the cause of death in a few. We describe a 19-year-old woman with an extreme form of the syndrome requiring correction of her thoracic deformities and cardiac defects, succumbing ultimately to respiratory insufficiency. The respiratory insufficiency was secondary to her deformed thorax, with the congenital heart defect contributing to the development of pulmonary hypertension. The ventilatory status of LEOPARD syndrome patients may require careful assessment.
- pulmonary hypertension
- ventilatory insufficiency