TY - JOUR T1 - Coronary artery dilation in LEOPARD syndrome: surveillance with low radiation dose cardiac CT JF - Heart JO - Heart SP - 1429 LP - 1429 DO - 10.1136/hrt.2010.202572 VL - 96 IS - 17 AU - Matthias Renker AU - U Joseph Schoepf AU - Anthony M Hlavacek Y1 - 2010/09/01 UR - http://heart.bmj.com/content/96/17/1429.abstract N2 - 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 … ER -