Restrictive cardiomyopathy in a patient with systemic sclerosis and Fabry disease: a case-based review

Arbeláez-Cortés, Álvaro; Quintero‐González, Diana C.; Cuesta-Astroz, Yesid; Villadiego, Juan S.; González-Buriticá, Herman; Rueda, Jorge M.

doi:10.1007/s00296-019-04453-y

Cited by 2 publications

(3 citation statements)

References 46 publications

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“…Heart is one of the major organs affected in LSDs, and many forms of LSD are accompanied by cardiac hypertrophy [43]. Although several case reports have implicated the clinical association of LSD and RCM [8,9], the experimental evidence and related mechanisms of this association are largely unknown. In this study, we found that Hgs-cKO mice displayed characteristic features of LSD: cholesterol and autophagosome accumulation, and lysosome enlargement.…”

Section: Discussionmentioning

confidence: 99%

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Hgs Deficiency Caused Restrictive Cardiomyopathy via Disrupting Proteostasis

Li¹,

Wang²,

Xin³

et al. 2022

Int. J. Biol. Sci.

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The molecular mechanisms underlying restrictive cardiomyopathy (RCM) are not fully understood. Hepatocyte growth factor-regulated tyrosine kinase substrate (HGS) is a vital element of Endosomal sorting required for transport (ESCRT), which mediates protein sorting for degradation and is crucial for protein homeostasis (proteostasis) maintenance. However, the physiological function and underlying mechanisms of HGS in RCM are unexplored. We hypothesized that HGS may play vital roles in cardiac homeostasis. Cardiomyocyte-specific Hgs gene knockout mice were generated and developed a phenotype similar to human RCM. Proteomic analysis revealed that Hgs deficiency impaired lysosomal homeostasis in cardiomyocytes. Loss of Hgs disrupted cholesterol transport and lysosomal integrity, resulting in lysosomal storage disorder (LSD) with aberrant autophagosome accumulation and protein aggregation. Suppression of protein aggregation by doxycycline treatment attenuated cardiac fibrosis, and diastolic dysfunction in Hgs-knockout mice. These findings uncovered a novel physiological role of HGS in regulating cardiac lysosomal homeostasis and proteostasis, suggesting that the deficient HGS contributes to LSD-associated RCM-like cardiomyopathy.

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Section: Discussionmentioning

confidence: 99%

“…However, whether lysosomal dysfunction can cause RCM is rarely known. In addition, although several case reports have revealed the clinical association of LSD and RCM [8,9]. LSD mouse model with RCM symptoms has not been reported.…”

Section: Ivyspringmentioning

confidence: 98%

Hgs Deficiency Caused Restrictive Cardiomyopathy via Disrupting Proteostasis

Li¹,

Wang²,

Xin³

et al. 2022

Int. J. Biol. Sci.

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“…Recently, it was reported the case of a female patient affected with systemic sclerosis and Fabry disease. In addition to the systemic sclerosis clinical manifestations, the patient was characterized by chest pain, a second-degree A-V block, and restrictive cardiomyopathy (without cardiovascular risk factors) [33].…”

Section: Fabry Diseasementioning

confidence: 99%

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

Puentes-Tellez

Lerma-Barbosa

Garzón-Jaramillo

et al. 2020

Heliyon

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Lysosomal storage diseases (LSDs) are a group of about 50 inborn errors of metabolism characterized by the lysosomal accumulation of partially or non-degraded molecules due to mutations in proteins involved in the degradation of macromolecules, transport, lysosomal biogenesis or modulators of lysosomal environment. Significant advances have been achieved in the diagnosis, management, and treatment of LSDs patients. In terms of approved therapies, these include enzyme replacement therapy (ERT), substrate reduction therapy, hematopoietic stem cell transplantation, and pharmacological chaperone therapy. In this review, we summarize the Colombian experience in LSDs thorough the evidence published. We identified 113 articles published between 1995 and 2019 that included Colombian researchers or physicians, and which were mainly focused in Mucopolysaccharidoses, Pompe disease, Gaucher disease, Fabry disease, and Tay-Sachs and Sandhoff diseases. Most of these articles focused on basic research, clinical cases, and mutation reports. Noteworthy, implementation of the enzyme assay in dried blood samples, led to a 5-fold increase in the identification of LSD patients, suggesting that these disorders still remain undiagnosed in the country. We consider that the information presented in this review will contribute to the knowledge of a broad spectrum of LSDs in Colombia and will also contribute to the development of public policies and the identification of research opportunities.

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Restrictive cardiomyopathy in a patient with systemic sclerosis and Fabry disease: a case-based review

Cited by 2 publications

References 46 publications

Hgs Deficiency Caused Restrictive Cardiomyopathy via Disrupting Proteostasis

Hgs Deficiency Caused Restrictive Cardiomyopathy via Disrupting Proteostasis

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

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