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A teenager with LEOPARD (‘cardiocutaneous’) syndrome,1 a rare autosomal dominant multisystem disorder of the Ras/MAPK pathway, was referred to our institution for re-evaluation of their coronary status. The diagnosis had been confirmed by genetic testing showing A279G mutation in exon 7 of the protein tyrosine phosphatase, non-receptor type 11 (PTPN11) gene. With the exception of Pulmonary stenosis and sensorineural Deafness, the patient exhibited all stigmata that form the LEOPARD mnemonic, including L …
Competing interests No funding was received for this work. UJS is a consultant for and receives research support from Bayer-Schering, Bracco, General Electric, Medrad, and Siemens.
Provenance and peer review Not commissioned; not externally peer reviewed.