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[Disorders of the cardiovascular system in congenital lentiginosis]
A Jurko1, V Rösslerová, S Srsen
1Detská klinika LF UK v Martine.
Insights
This study identifies a rare lentiginocardiomyopathic syndrome in four patients with lentiginosis and heart issues, distinct from Leopard syndrome. Two patients showed right ventricle outflow obstruction due to septal hypertrophy, with observed disease progression.
Area of Science:
- Cardiology
- Genetics
- Dermatology
Context:
- Investigated four patients with lentiginosis and cardiac involvement over 10 years.
- Symptoms did not meet full criteria for Leopard syndrome.
- Focused on a rare clinical and genetic entity.
Purpose:
- To describe and characterize a distinct lentiginosis-associated cardiomyopathy.
- To propose the term 'lentiginocardiomyopathic syndrome'.
- To monitor disease progression in affected individuals.
Summary:
- Four patients with lentiginosis and cardiac abnormalities were studied.
- Two patients exhibited right ventricle outflow obstruction attributed to interventricular septum and right ventricle musculature hypertrophy.
- The term lentiginocardiomyopathic syndrome was proposed for this rare condition.
Impact:
- Highlights a rare genetic syndrome linking lentiginosis and cardiomyopathy.
- Suggests specific cardiac manifestations (right ventricle outflow obstruction) in this syndrome.
- Emphasizes the need for regular monitoring due to observed disease progression in children.
Abstract:
The authors investigated during the last 10 years four patients with lentiginosis and affection of the heart. In none of them the symptoms were complete enough to include it under the leopard syndrome. In two patients the authors found changes in the outflow portion of the right ventricle which was in their opinion caused by hypertrophy of the interventricular septum and musculature of the right ventricle. The authors consider the term lentiginocardiomyopathic syndrome suitable for this rare clinical and genetic entity. The authors check patients with lentiginocardiomyopathic syndrome regularly after 6-month intervals. In two children they recorded progression of the heart disease.