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[Generalized lentigo in a case of hypertrophic cardiomyopathy with right ventricular outflow tract obstruction]
Insights
Generalized lentigo, a skin condition, can be linked to heart abnormalities like hypertrophic cardiomyopathy and right ventricular outflow tract obstruction, as seen in a rare LEOPARD syndrome case.
Area of Science:
- Cardiology
- Dermatology
- Medical Genetics
Background:
- LEOPARD syndrome is a rare genetic disorder characterized by multiple lentigines, electrocardiographic abnormalities, and facial abnormalities.
- Cardiac involvement, particularly right ventricular outflow tract obstruction, is a known feature but can present atypically.
Observation:
- A 34-year-old man presented with generalized lentigines and a history of heart murmur and pulmonary stenosis.
- Physical examination revealed numerous lentigines and cardiac findings including precordial murmurs.
- Echocardiography showed asymmetric septal hypertrophy, mitral valve systolic anterior motion (SAM), and systolic semiclousure of semilunar valves.
Findings:
- Pulsed Doppler confirmed turbulent flow in both ventricular outflow tracts.
- Cardiac catheterization revealed a 13 mmHg pressure gradient across the right ventricular outflow tract.
- The case presented as an atypical LEOPARD syndrome with predominant right ventricular outflow tract obstruction.
Implications:
- This case highlights the importance of considering LEOPARD syndrome in patients with generalized lentigo and cardiac abnormalities.
- Noninvasive techniques like echocardiography are crucial for precise evaluation of right ventricular outflow tract obstruction.
- Recognizing atypical presentations is vital for timely diagnosis and management of LEOPARD syndrome.
Abstract:
A case was reported in which generalized lentigo was associated with hypertrophic cardiomyopathy and right ventricular outflow tract obstruction. A 34-year-old man was admitted to our hospital for cardiac evaluation. He had been noted to have a heart murmur since his childhood and had had a diagnosis of pulmonary stenosis in his high school age. Physical examination revealed precordial murmurs and numerous lentigines over his whole body surface including palms and soles. Two-dimensional and M-mode echocardiography disclosed asymmetric septal hypertrophy, systolic anterior motion of the mitral valve (SAM) and systolic semiclosure of both semilunar valves. A systolic turbulent flow was recorded at the outflow tracts of both ventricles by pulsed Doppler technique. Cardiac catheterization demonstrated a pressure gradient of 13 mmHg across the right ventricular outflow tract. We considered that the present case was an atypical LEOPARD syndrome with predominant right ventricular outflow tract obstruction which was precisely evaluated by noninvasive techniques.