A Rare Manifestation of Right Ventricular Dysfunction in an Adult Patient With Mucolipidosis Type III α/β

Soichiro Kashihara, Kisho Ohtani, Tasuku Sato, Akiko Nishizaki, Yoko Shojima, Yuko Deguchi, Takeo Fujino, Toru Hashimoto, Taiki Higo, Hiroyuki Tsutsui

Research output: Contribution to journalArticlepeer-review

Abstract

Mucolipidosis type III α/β is an autosomal recessive lysosomal storage disease, caused by the deficient activity of UDP-N-acetyl glucosamine-1-phosphotransferase. The resultant intralysosomal accumulation of partly degraded mucopolysaccharides and sphingolipids causes multiple-organ damage, including the heart. The most documented cardiac manifestation is the thickening and insufficiency of mitral and aortic valves, but there are very few reports about the myocardial involvement. We report a case with mucolipidosis type III α/β complicated by marked dilatation and dysfunction of the right ventricle, which is quite rare and further broadens the clinical spectrum of the disease.

Original languageEnglish
Pages (from-to)1978.e1-1978.e3
JournalCanadian Journal of Cardiology
Volume36
Issue number12
DOIs
Publication statusPublished - Dec 2020

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

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