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

研究成果: Contribution to journalArticle査読

抄録

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.

本文言語英語
ページ(範囲)1978.e1-1978.e3
ジャーナルCanadian Journal of Cardiology
36
12
DOI
出版ステータス出版済み - 12 2020

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

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