EOPARD syndrome is a rare autosomal dominant hereditary disorder originally described by Gorlin et al. [1] as multiple lentigines syndrome. For clarification and better memorization of the disorder’s aspects, the mnemonic aid LEOPARD was introduced: lentigines, multiple; electrocardiographic conduction defects; ocular hypertelorism; pulmonary stenosis; abnormalities of the genitalia; retardation of growth; and deafness, sensorineural. Most cases with this diagnosis have only a few of the features described, and patients with the full clinical spectrum are very rare. We describe the clinical and cardiac imaging findings in a patient with the full syndrome. The patient’s cardiac involvement was extensively studied, and the following imaging techniques were used: conventional chest Xray, echocardiography, right and left heart catheterization including coronary arteriography, thoracic aortography, and MRI. To our knowledge, this is the first LEOPARD case in the literature that was extensively studied with MRI. Case Report A 17-year-old boy with known LEOPARD syndrome was referred to our center for evaluation of his cardiac status. The patient had mild exertional dyspnea and central and peripheral cyanosis. The patient also had a minor form of lentiginosis that was especially developed on the left side of the neck and in the right axillary region (Fig. 1A). He had hypertelorism and was deaf, and his genitalia were hypoplastic. His body weight and height were 32.4 kg and 143 cm, values typical for a 10-year-old boy. His ECG showed signs of right ventricular hypertrophy, AV block grade 1, and right axis deviation. The chest X-ray showed a slightly enlarged heart with increased retrosternal contact, indicating the presence of right heart hypertrophy. There was dilatation of the main pulmonary and left pulmonary arteries. No evidence of hypercirculation was found. The peripheral pulmonary vasculature was normal. No abnormality of the chest wall and osseous structures was present (Fig. 1B). Echocardiography showed valvular and infundibular pulmonary stenosis with massive hypertrophy of the free right ventricular wall and the septum (Fig. 1C). The gradient measured with a Doppler sonogram over the right ventricular outflow tract (RVOT) was 175 mm Hg, and the mean systolic gradient was 87 mm Hg. The left ventricle was small, left ventricular function was normal, and no gradient was present over the left ventricular outflow tract (LVOT), although there was massive hypertrophy of the septum. In addition, there was a patent foramen ovale and minimal aortic and mitral regurgitation, the latter a result of a prolapse of the anterior leaflet of the mitral valve. Cardiac catheterization showed concentric right ventricular hypertrophy with severe systolic infundibular narrowing and the typical doming sign of the pulmonic valve (Fig. 1D). The right ventricular pressures were 220 mm Hg during systole and 4 mm Hg during end-diastole; the pressures in the pulmonary artery were 28 mm Hg and 4 mm Hg, respectively, with a mean of 14 mm Hg. The pulmonary capillary wedge pressure was 11/0/5 mm Hg. The left ventriculogram showed hypertrophy of the septal portion of
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Dec 3, 2013
Seiki Hosokawa + 8
Open Access