Preferred Label : Conduction System Hamartoma;
NCIt synonyms : Congenital Cardiomyopathy; Oncocytic Cardiomyopathy; Purkinje Cell Hamartoma; Isolated Cardiac Lipidosis; Myocardial Hamartoma; Infantile Xanthomatous Cardiomyopathy; Arachnocytosis of the Myocardium; CSH; Histiocytoid Cardiomyopathy;
NCIt definition : A hamartomatous lesion of the sinoatrial node, atrioventricular node, and Purkinje
fibers of the cardiac conducting system. It occurs predominantly in the first two
years of life. Most patients present with arrhythmias and electrical disturbances.
It is characterized by the presence of multifocal, poorly defined islands of large
polygonal cells with a granular eosinophilic cytoplasm, a small round to oval-shaped
nucleus, and occasional nucleoli. The cytoplasmic appearance is due to extensive accumulation
of mitochondria. If left untreated, this condition is usually fatal. However, the
outcome has improved over the past two decades due to developments in surgical intervention,
electrophysiological mapping, and ablation of the arrhythmogenic foci, with a survival
rate of approximately 80%. (WHO 2015);
Origin ID : C45745;
UMLS CUI : C1708371;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Has associated anatomic sites
- Semantic type(s)
- UMLS correspondences (same concept)
