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Coronary artery dilation in LEOPARD syndrome: surveillance with low radiation dose cardiac CT
  1. Matthias Renker,
  2. U Joseph Schoepf,
  3. Anthony M Hlavacek
  1. Correspondence toProfessor U Joseph Schoepf; schoepf{at}musc.edu

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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 Lentigines and café-au-lait spots, Electrocardiographic conduction abnormalities (left anterior hemi-block, incomplete right bundle branch block), Ocular hypertelorism, Abnormal genitalia (single ovary) and Retarded growth. Three years earlier cardiac catheterisation had shown diffuse aneurysms (arrows) of the right (RCA, panel A) and left anterior descending (LAD, panel B) coronary arteries, which among the roughly 100 cases described in the literature had hitherto been rarely seen in this syndrome, whereas hypertrophic cardiomyopathy and pulmonary valve stenosis have been more frequently reported.2 Instead of repeat catheterisation, we chose to perform low-radiation dose (2.16 mSv) prospectively ECG-triggered dual-source coronary computed tomographic (CT) angiography for disease surveillance, the use of which to our knowledge has not been previously described in this syndrome. The CT study, displayed here as 3D volume rendering (panel C and online video), angiographic cranial projection (panel D), and curved multiplanar reformation (panel E), showed stable aneurysmal dilatation (arrows) of the proximal RCA and proximal to mid LAD in comparison with prior catheterisation, a normal circumflex coronary artery (LCx), continued patency of all vessels and no other cardiac abnormalities.

Panel A–E

Imaging surveillance of coronary artery dilation in a teenager with LEOPARD syndrome. Cardiac catheterisation shows diffuse aneurysms (arrows) of the right (RCA-A) and left anterior descending (LAD-B) coronary arteries. Low-radiation dose prospectively ECG-triggered dual-source coronary computed tomographic angiography study displayed as 3D volume rendering (C), angiographic cranial projection (D), and curved multiplanar reformation (E), shows stable aneurysmal dilation (arrows) of the proximal RCA and proximal to mid LAD, a normal circumflex coronary artery (LCx), continued patency of all vessels, and no other cardiac abnormalities.

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Footnotes

  • 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.

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