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Getting to the Heart of the Matter: Lysosomal Storage Diseases That Manifest a Cardiac Phenotype

  • Genetic Counseling and Clinical Testing (B LeRoy and N Callanan, Section Editors)
  • Published:
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Abstract

Purpose of Review

The lysosomal storage diseases (LDs) are a group of over 70 inherited metabolic conditions caused by deficiencies in one or more lysosomal enzymes affecting degradation pathways, transportation mechanisms, or other key mechanisms that hamper lysosomal functioning. LDs are individually rare but collectively common with a combined incidence of 1 in 4000 to 13,000 individuals. FDA-approved therapies exist for several of the conditions. Timely treatment of patients with LDs has been hampered by significant diagnostic delays. For many LDs, cardiac manifestations can provide a diagnostic clue to identifying affected individuals.

Recent Findings

Cardiac issues can be structural and/or functional and range in onset from before birth to adult onset.

Summary

In order to increase awareness of the cardiac manifestations of LDs, this review identifies key cardiac features which can assist clinicians in diagnosing LDs, reviews the importance of early diagnosis and treatment, and discusses recent articles that assist in optimizing overall outcome.

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Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Authors and Affiliations

  1. Department of Human Genetics, Emory School of Medicine, 101 Woodruff Circle, Suite 7130, Atlanta, GA, 30322, USA

    Dawn A. Laney & Stephanie B. Wechsler

  2. Department of Cardiology, Emory School of Medicine, 1365 Clifton Road, Atlanta, GA, 30322, USA

    Divya Gupta & Stephanie B. Wechsler

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  1. Dawn A. Laney
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Correspondence to Dawn A. Laney.

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Conflict of Interest

Dawn A. Laney reports receiving grants, consulting, speaking, and serving on North American Fabry Registry Board with Sanofi-Genzyme, grants and speaking from Shire, cofounder of ThinkGenetic, Inc., and grants from Amicus Therapeutics, outside the submitted work. Divya Gupta reports grants from Otsuka Pharmaceuticals, Inc., outside the submitted work. Stephanie B. Wechsler declares no conflicts of interest.

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Laney, D.A., Gupta, D. & Wechsler, S.B. Getting to the Heart of the Matter: Lysosomal Storage Diseases That Manifest a Cardiac Phenotype. Curr Genet Med Rep 6, 28–42 (2018). https://doi.org/10.1007/s40142-018-0135-z

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