Mucopolysaccharidosis Type IIIA Presenting as Hypertrophic Cardiomyopathy

Filippo Pinto E Vairo^{1

2}, Jeffrey B Geske³, Ravinder J Singh⁴, Roy B Dyer⁴, Konstantinos C Siontis³, Maria O'Connell⁵, Christopher Schmitz⁵, Laura Lambert^{2

5

6}, Karl J Clark^{1

7}, Kimiyo M Raymond⁸, Joseph J Maleszewski⁸, Tim Wood⁹, Pavel N Pichurin², Eric W Klee^{1

2

8}, Naveen L Pereira^{3

10}

Affiliations

¹ Center for Individualized Medicine (F.P.e.V., K.J.C., E.W.K.), Mayo Clinic, Rochester, MN.
² Department of Clinical Genomics (F.P.e.V., L.L., P.N.P., E.W.K.), Mayo Clinic, Rochester, MN.
³ Department of Cardiovascular Medicine (J.B.G., K.C.S., N.L.P.), Mayo Clinic, Rochester, MN.
⁴ Immunochemical Core Laboratory (R.J.S., R.B.D.), Mayo Clinic, Rochester, MN.
⁵ Department of Biochemistry and Molecular Biology (M.O.C., C.S., L.L.), Mayo Clinic, Rochester, MN.
⁶ Department of Physiology and Biomedical Engineering (L.L.), Mayo Clinic, Rochester, MN.
⁷ Department of Animal Science, Texas A&M University, College Station (K.J.C.).
⁸ Department of Laboratory Medicine and Pathology (K.M.R, J.J.M., E.W.K.), Mayo Clinic, Rochester, MN.
⁹ Children's Hospital Colorado, Anschutz Medical Campus, Aurora (T.W.).
¹⁰ and Department of Molecular Pharmacology and Experimental Therapeutics (N.L.P.), Mayo Clinic, Rochester, MN.

Filippo Pinto E Vairo et al. Circ Heart Fail. 2025 Jul.

. 2025 Jul;18(7):e012632.

doi: 10.1161/CIRCHEARTFAILURE.124.012632. Epub 2025 Mar 31.

¹ Center for Individualized Medicine (F.P.e.V., K.J.C., E.W.K.), Mayo Clinic, Rochester, MN.
² Department of Clinical Genomics (F.P.e.V., L.L., P.N.P., E.W.K.), Mayo Clinic, Rochester, MN.
³ Department of Cardiovascular Medicine (J.B.G., K.C.S., N.L.P.), Mayo Clinic, Rochester, MN.
⁴ Immunochemical Core Laboratory (R.J.S., R.B.D.), Mayo Clinic, Rochester, MN.
⁵ Department of Biochemistry and Molecular Biology (M.O.C., C.S., L.L.), Mayo Clinic, Rochester, MN.
⁶ Department of Physiology and Biomedical Engineering (L.L.), Mayo Clinic, Rochester, MN.
⁷ Department of Animal Science, Texas A&M University, College Station (K.J.C.).
⁸ Department of Laboratory Medicine and Pathology (K.M.R, J.J.M., E.W.K.), Mayo Clinic, Rochester, MN.
⁹ Children's Hospital Colorado, Anschutz Medical Campus, Aurora (T.W.).
¹⁰ and Department of Molecular Pharmacology and Experimental Therapeutics (N.L.P.), Mayo Clinic, Rochester, MN.

No abstract available

Keywords: cardiomyopathies; heart failure; inborn genetic diseases; lysosomal storage diseases.

Conflict of interest statement

None.