European Heart Journal Advance Access originally published online on November 18, 2005
European Heart Journal 2006 27(12):1407; doi:10.1093/eurheartj/ehi543
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Comprehensive non-invasive pre-surgical magnetic resonance imaging in a patient with LEOPARD's syndrome cardiomyopathy
1 Klinik für Strahlenheilkunde, Charité–Universitätsmedizin Berlin, Augustenburger Platz1, Berlin 13353, Germany
2 Klinik für Pädiatrie mit Schwerpunkt Kardiologie, Berlin, Germany
* Corresponding author. E-mail address: claudi.seibt{at}gmx.de
We describe for the first time a comprehensive pre-surgical magnetic resonance imaging (MRI) in a 10-year-old boy (height 124 cm/weight 24 kg) with LEOPARD's syndrome, a rare autosomal-dominant hereditary disorder. ‘LEOPARD’ stands for: lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth, and deafness. This patient showed lentigines (Panel A), incomplete right bundle branch block, ocular hypertelorism, and a suspected high-grade obstruction (gradient 100 mmHg) of the right ventricular outflow tract (RVOT) on echocardiography. To visualize the RVOT for pre-surgical guidance, cardiac MRI was performed. This showed extensive hypertrophy (Panels B and C) and a hyperdynamic systolic function of the LV and RV [LV-EF: 80% (normal: 63–67%), RV-EF: 78% (normal: 57–64%), LV muscle mass index: 141 g/m2 (normal: 56–106 g/m2), and RV muscle mass index: 81 g/m2 (normal: 20–32 g/m2)]. Short axis slices in end-systole (Panel B) and end-diastole (Panel C) showed functional obstruction of the RVOT during systole due to a ventricular septal bulk (Panels B and C). Further, the non-invasive pre-surgical workup comprised coronary MR angiography (MRA), which showed a prominent RCA (Panel D). A residual perfusion study (Panel E) using i.v. Gd-DTPA (0.1 mmol/kg) and a viability study (Panel F) using the ‘late enhancement’ technique showed significant intramyocardial perfusion deficit and late enhancement, indicating fibrosis or scar inferoseptally (Panels E and F). MRA of the pulmonary arteries showed no further stenoses. The comprehensive pre-surgical imaging, including morphological and functional aspects, allowed decision-making and surgical planning without invasive methods being used.
Supplementary material is available at European Heart Journal online (colour version of the figure).
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