Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses

Karolina M Stepien; Elizabeth A Braunlin

doi:10.3389/fcvm.2022.907175

Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses

Front Cardiovasc Med. 2022 Jun 10:9:907175. doi: 10.3389/fcvm.2022.907175. eCollection 2022.

Authors

Karolina M Stepien¹, Elizabeth A Braunlin²

Affiliations

¹ Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, United Kingdom.
² Department of Pediatrics, University of Minneapolis, Minneapolis, MN, United States.

Abstract

The Mucopolysaccharidoses (MPSs) are a group of heterogenous disorders with complex multisystemic presentations. Although Haematopoietic Cell Transplantation (HCT) and Enzyme Replacement Therapy (ERT) have extended the lifespan of individuals affected with MPS well into adulthood, reversal of pre-existing cardiac, skeletal and neurocognitive deficits does not occur, so there are no truly curative treatments available to these patients at present. The medical and surgical management of cardiovascular problems in adults with MPS is complicated by these pre-existing comorbidities, requiring the involvement of multidisciplinary and multispecialty perioperative teams. This review sets out to describe the unmet cardiac needs in adults with MPS disorders including the lack of effective treatments, monitoring guidelines, and the challenges regarding expertise and training, and psychosocial support.

Keywords: adult mucopolysaccharidoses; cardiac; therapies; transition; unmet needs.

Publication types

Review