Widespread vasculopathy in a patient with morquio a syndrome

Authors

• Adam W. Powell, Cincinnati Children's Hospital Medical Center
• Michael D. Taylor, Cincinnati Children's Hospital Medical Center
• T. Andrew Burrow, Cincinnati Children's Hospital Medical Center
• Robert J. Hopkin, Cincinnati Children's Hospital Medical Center
• Carlos E. Prada, Cincinnati Children's Hospital Medical Center
• John L. Jefferies, Cincinnati Children's Hospital Medical Center

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.

Publication Title

Texas Heart Institute Journal

Recommended Citation

Powell, A., Taylor, M., Burrow, T., Hopkin, R., Prada, C., & 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