Cardiovascular Structure and Function in the Mucopolysaccharidoses

Specific Aims 1. Annually assess cardiac and carotid structure and function utilizing ultrasonography, in patients with mucopolysaccharidoses 2. Annually measure circulating levels of clusterin, elastin, cathepsin S, lipids, and cytokines in patients with mucopolysaccharidoses Target enrollment 30 subjects at CHOC Children's Hospital Study Protocol Screening 1. Study Investigators will identify eligible patients to participate in the study from their current patient population and future referrals. 2. Eligible patients will be provided with study information on the study during their standard of care metabolic clinic visit. Informed Consent 1. Informed consent will be obtained following the requirements set forth by 21 CFR 50.25. 2. Patients interested in the study will be provided the informed consent document. The document will be reviewed in a private quiet room and ample time for questions will be provided. The patient can keep a copy of the consent if they wish to discuss the study with friends and family. Consent will only be obtained once the patient has had time to ask questions and is aware that the study is completely voluntary. Initial entry 1. Information regarding age, sex, MPS diagnosis (including genetic mutation and enzymatic levels, if possible) will be obtained 2. Height and weight will be obtained. If patient has had a recent (within 3 months) evaluation at CHOC Children's with height and weight, those parameters may be used 3. Medical records will be obtained specifically focusing upon 1. the genetic and/or enzymatic testing used to confirm the MPS diagnosis 2. the treatment status (treated or not) and duration of treatment (calculated by the difference between date of first carotid imaging and date of first treatment) 4. Carotid ultrasonography will be obtained 1. Study takes 10 - 15 minutes to complete 2. Subject will be asked to lay still and quietly during procedure 3. Blood pressure and heart rate will be obtained during the study 4. Results will be digitized and stored on CD 5. Echocardiography will be obtained 1. Study takes 15 - 20 minutes to complete 2. Subject will be asked to lay still and quietly during procedure 3. Results will be digitized and stored on CD 6. Venipuncture / phlebotomy 1. 10 mL of blood total will be drawn (5 mL in a blue top citrate tube, 5 mL in a purple top EDTA tube). Measurements of cytokines, clusterin, lipidomics, cathepsin S protease, and elastin (previously identified potential biomarker candidates) will be performed. 2. Blood will preferably be drawn via venipuncture, but if patient has a port-a-cath already implanted and is having blood drawn via port-a-cath for clinically required reasons, then study-related blood draw via port-a-cath can take place concurrently with clinically required blood draws. Annual studies Procedures 2), 4), 5), and 6) will be repeated on an annual basis for a total of three years