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Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
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Damage of the cardiovascular system in lysosomal storage disease - mucopolysaccharidosis

Sergiy Mykolayovych Pyvovar1, Iuriy Stepanovych Rudyk1, Tetiana Valentynivna Lozyk1

  • 1Government Institution "L.T. Malaya Therapy National Institute of the National Academy of Medical Sciences of Ukraine", Kharkiv, Ukraine.

Polski Merkuriusz Lekarski : Organ Polskiego Towarzystwa Lekarskiego
|December 17, 2021
PubMed

Insights

Mucopolysaccharidosis (MPS) frequently causes severe cardiovascular damage, including valve thickening and myocardial hypertrophy, often leading to fatal outcomes. Early detection and treatment are crucial for managing MPS-related heart conditions.

Area of Science:

  • Biomedical Science
  • Genetics
  • Cardiology

Background:

  • Mucopolysaccharidoses (MPS) are a group of rare genetic disorders.
  • Cardiovascular system involvement is a significant and often fatal complication of MPS.
  • Specific MPS types, including Hurler, Hunter, and Maroteaux-Lamy syndromes, exhibit pronounced cardiac pathology.

Purpose of the Study:

  • To review and synthesize existing literature on cardiovascular pathologies in mucopolysaccharidosis.
  • To highlight the common manifestations and challenges in diagnosing cardiac issues in MPS patients.
  • To outline current and emerging therapeutic strategies for cardiovascular complications in MPS.

Main Methods:

  • Literature review and analysis of published data on mucopolysaccharidosis and cardiovascular disease.
  • Synthesis of findings regarding the types and severity of cardiac damage across different MPS subtypes.
  • Examination of diagnostic challenges and treatment modalities.

Main Results:

  • Cardiovascular damage is a hallmark of MPS, affecting all types, with severe implications in Hurler, Hunter, and Maroteaux-Lamy syndromes.
  • Common findings include valvular thickening and dysfunction, myocardial hypertrophy, conduction abnormalities, coronary artery disease, and hypertension.
  • Clinical and functional cardiovascular assessment is complicated by patient physical and intellectual limitations.

Conclusions:

  • Cardiovascular pathology is a critical determinant of morbidity and mortality in mucopolysaccharidosis.
  • Comprehensive management requires addressing diagnostic difficulties and employing advanced therapies.
  • Enzyme replacement therapy and stem cell transplantation show promise for treating cardiovascular complications in MPS.

Keywords:
cardiovascular systemdiagnosticslysosomal storage diseasemucopolysaccharidosistreatment

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