Cerebrotendinous xanthomatosis: Evidence of lipomatous hypertrophy of the atrial septum

Maria Teresa Dotti, Sergio Mondillo, Katrin Plewnia, Eustachio Agricola, Antonio Federico

Research output: Contribution to journalArticlepeer-review


Premature atherosclerosis and cardiac complications have been reported among the systemic manifestations of cerebrotendinous xanthomatosis (CTX), a rare bile acid disorder with predominantly neurological features. In some cases, myocardial infarction has been the cause of sudden death. We examined nine CTX patients to determine whether they also had clinical or subclinical signs of cardiovascular disorders. In four of them, transthoracic echocardiography showed thickening of the interatrial septum compatible with lipomatous hypertrophy. The unexpected association of the two abnormalities is unlikely to be coincidental and suggests that careful cardiac examination should be considered, even in the absence of clinical manifestations.

Original languageEnglish
Pages (from-to)723-726
Number of pages4
JournalJournal of Neurology
Issue number11
Publication statusPublished - 1998


  • Cerebrotendinous xanthomatosis
  • Interatrial septum
  • Lipomatous hypertrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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