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Table 1 Ten-point checklist for cardiologists to suspect mucopolysaccharidosis

From: Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists

1. Family history: consanguinity and/or X-linked inheritance (female to male; no male to male transmission)

Yes/No

2. Hump/spinal column malformations

Yes/No

3. Hip dysplasia

Yes/No

4. Inguinal hernia

Yes/No

5. Respiratory infections

Yes/No

6. Facial dysmorphisms

Yes/No

7. Corneal opacity/retinitis

Yes/No

8. Valve disease (mitral/aortic)

Yes/No

9. Electrocardiography: atrioventricular block

Yes/No

10. Aortopathy/coronary artery disease

Yes/No