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

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Abstract

Systemic sclerosis (SSc) is a rare immune-mediated vasculopathy characterized by fibrosis of the skin and internal organs. Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene producing α-galactosidase-A enzyme (α-Gal A) deficiency. Being a systemic disease, cardiac involvement in FD has a high mortality rate due to heart failure and arrhythmia. The coexistence of these two entities has not been reported previously. We describe the case of a female patient with limited SSc (lcSSc), a diagnosis based on the presence of sclerodactyly, Raynaud phenomenon, microvascular involvement, and positive anti-centromere antibodies. On follow-up, she developed chest pain, a second-degree A-V block, and restrictive cardiomyopathy (without cardiovascular risk factors). Although heart involvement is common in these two entities, the abnormal thickening of lateral and inferior wall, the infiltration pattern and the conduction system disorders presented herein are more characteristic in a heterozygous female with a cardiac variant of FD. The diagnosis of FD was confirmed with high globotriaosylsphingosine (Lyso-Gb3) levels and identification of GLA gene mutation. The patient was treated with enzymatic replacement (agalsidase alpha) following mild improvement in ventricular mass at 6th month, without clinical deterioration. The related literature on SSc associated with FD is also reviewed.

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Acknowledgements

The authors thank the patient and her family.

Funding

This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

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Authors and Affiliations

  1. Internal Medicine, Universidad Libre, Cali, Colombia

    Álvaro Arbeláez-Cortés, Diana C. Quintero-González, Herman González-Buriticá & Jorge M. Rueda

  2. Arthritis and Rheumatology Clinic, Centro Médico Imbanaco, Cali, Colombia

    Álvaro Arbeláez-Cortés, Herman González-Buriticá & Jorge M. Rueda

  3. School of Microbiology, Universidad de Antioquia, Medellín, Colombia

    Yesid Cuesta-Astroz

  4. Instituto Colombiano de Medicina Tropical, Universidad CES, Sabaneta, Colombia

    Yesid Cuesta-Astroz

  5. Cardiology, Clínica Amiga, Cali, Colombia

    Juan S. Villadiego

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  1. Álvaro Arbeláez-Cortés
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Contributions

This case has been diagnosed and followed up by AA-C and JV. AA-C, DQ-G, YC-A, JR, HG-B, and JV conceived and planned the presented case report. AA-C and DQ-G wrote the manuscript with support from JR, HG-B, JV, and YC-A. AA-C, DQ-G, YC-A, JR, HG-B, and JV provided the literature data. All co-authors are fully responsible for the integrity of the study and the manuscript.

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Correspondence to Álvaro Arbeláez-Cortés.

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Arbeláez-Cortés, Á., Quintero-González, D.C., Cuesta-Astroz, Y. et al. Restrictive cardiomyopathy in a patient with systemic sclerosis and Fabry disease: a case-based review. Rheumatol Int 40, 489–497 (2020). https://doi.org/10.1007/s00296-019-04453-y

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