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Case Report

Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference

1
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, Italy
2
Division of Clinical Cardiology, A.O.R.N. “Sant’Anna e San Sebastiano”, 81100 Caserta, Italy
3
Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, 80131 Naples, Italy
4
Institute of Biomedicine and Molecular Immunology “A. Monroy”, National Research Council, 90146 Palermo, Italy
5
Adult Congenital Heart Disease Unit, Monaldi Hospital, 80131 Naples, Italy
6
Institute of Cardiovascular Sciences, University College of London and St. Bartholomew’s Hospital, London WC1E 6DD, UK
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editor: Elena Arbelo
Cardiogenetics 2022, 12(1), 102-108; https://doi.org/10.3390/cardiogenetics12010010
Received: 6 January 2022 / Revised: 1 February 2022 / Accepted: 23 February 2022 / Published: 25 February 2022
Fabry disease (FD) is a multiorgan disease, which can potentially affect any organ or tissue, with the heart, kidneys, and central nervous system representing the major disease targets. FD can be suspected based on the presence of specific red flags, and the subsequent evaluation of the α-Gal A activity and GLA sequencing, are required to confirm the diagnosis, to evaluate the presence of amenable GLA mutation, and to perform a cascade program screening in family members. An early diagnosis is required to start an etiological treatment and to prevent irreversible organ damage. Here, we describe a case of a 37-years-old patient, with a surgically repaired congenital heart defect in his childhood, who had a late diagnosis of FD based on the clinical history and targeted genetic evaluation. This case highlights the importance to perform a correct phenotyping and definite diagnosis of FD, to start an early and appropriate treatment in the index patient, and a cascade clinical and genetic screening to identify other family members at risk, which may benefit from specific treatment and/or a close follow-up. View Full-Text
Keywords: Fabry disease; congenital heart defect; clinical markers; enzyme replacement therapy; migalastat; cascade program screening Fabry disease; congenital heart defect; clinical markers; enzyme replacement therapy; migalastat; cascade program screening
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MDPI and ACS Style

Rubino, M.; Monda, E.; Caiazza, M.; Palmiero, G.; Lioncino, M.; Cirillo, A.; Fusco, A.; Verrillo, F.; Perna, A.; Diana, G.; Amodio, F.; Cesaro, A.; Duro, G.; Sarubbi, B.; Russo, M.G.; Calabrò, P.; Limongelli, G. Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference. Cardiogenetics 2022, 12, 102-108. https://doi.org/10.3390/cardiogenetics12010010

AMA Style

Rubino M, Monda E, Caiazza M, Palmiero G, Lioncino M, Cirillo A, Fusco A, Verrillo F, Perna A, Diana G, Amodio F, Cesaro A, Duro G, Sarubbi B, Russo MG, Calabrò P, Limongelli G. Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference. Cardiogenetics. 2022; 12(1):102-108. https://doi.org/10.3390/cardiogenetics12010010

Chicago/Turabian Style

Rubino, Marta, Emanuele Monda, Martina Caiazza, Giuseppe Palmiero, Michele Lioncino, Annapaola Cirillo, Adelaide Fusco, Federica Verrillo, Alessia Perna, Gaetano Diana, Federica Amodio, Arturo Cesaro, Giovanni Duro, Berardo Sarubbi, Maria G. Russo, Paolo Calabrò, and Giuseppe Limongelli. 2022. "Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference" Cardiogenetics 12, no. 1: 102-108. https://doi.org/10.3390/cardiogenetics12010010

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