Widespread vasculopathy in a patient with morquio a syndrome

Adam W. Powell, Michael D. Taylor, T. Andrew Burrow, Robert J. Hopkin, Carlos E. Prada, John Jefferies

Research output: Contribution to journalArticle

Abstract

Morquio A syndrome (mucopolysaccharidosis IV type A), an autosomal recessive lysosomal storage disorder caused by a defective N-acetylgalactosamine 6-sulfatase gene, leads to lysosomal accumulation of keratan sulfate and chondroitin 6-sulfate. This accumulation affects multiple systems and causes notable cardiovascular manifestations, such as thickening of the left-sided valves, ventricular hypertrophy, and intimal stenosis of the coronary arteries. There have been few reports of vasculopathy in this population. We present the case of a 58-year-old woman with Morquio A syndrome who was found to have aortic dilation on a routine screening echocardiogram. Magnetic resonance images revealed multiple tortuous, dilated arteries in her head, neck, and abdomen. The diffuse vasculopathy seen in this patient should prompt further study to determine whether this is an underreported phenomenon of clinical significance or an unusual finding in this rare disorder.

Original languageEnglish (US)
Pages (from-to)420-423
Number of pages4
JournalTexas Heart Institute Journal
Volume44
Issue number6
DOIs
StatePublished - Dec 1 2017

Fingerprint

Mucopolysaccharidosis IV
N-acetylglucosamine-6-sulfatase
Tunica Intima
Keratan Sulfate
Acetylgalactosamine
Chondroitin Sulfates
Coronary Stenosis
Abdomen
Hypertrophy
Dilatation
Neck
Magnetic Resonance Spectroscopy
Arteries
Head
Population
Genes

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

Cite this

Powell, A. W., Taylor, M. D., Burrow, T. A., Hopkin, R. J., Prada, C. E., & Jefferies, J. (2017). Widespread vasculopathy in a patient with morquio a syndrome. Texas Heart Institute Journal, 44(6), 420-423. https://doi.org/10.14503/THIJ-16-6121

Widespread vasculopathy in a patient with morquio a syndrome. / Powell, Adam W.; Taylor, Michael D.; Burrow, T. Andrew; Hopkin, Robert J.; Prada, Carlos E.; Jefferies, John.

In: Texas Heart Institute Journal, Vol. 44, No. 6, 01.12.2017, p. 420-423.

Research output: Contribution to journalArticle

Powell, AW, Taylor, MD, Burrow, TA, Hopkin, RJ, Prada, CE & Jefferies, J 2017, 'Widespread vasculopathy in a patient with morquio a syndrome', Texas Heart Institute Journal, vol. 44, no. 6, pp. 420-423. https://doi.org/10.14503/THIJ-16-6121
Powell, Adam W. ; Taylor, Michael D. ; Burrow, T. Andrew ; Hopkin, Robert J. ; Prada, Carlos E. ; Jefferies, John. / Widespread vasculopathy in a patient with morquio a syndrome. In: Texas Heart Institute Journal. 2017 ; Vol. 44, No. 6. pp. 420-423.
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