Angina microvascular en enfermedad de Fabry: A propósito de un caso
Anderson–Fabry disease (AFD), a genetic disorder linked to the X chromosome, is caused by mutations in the gene encoding the enzyme α-galactosidase A. The resulting enzyme deficiency leads to a systemic lysosomal accumulation of alpha-galactosyl residues in glycolipids and glycoproteins. In AFD, myo...
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| Autores principales: | , , , , |
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| Formato: | Artículo revista |
| Lenguaje: | Español |
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Ediciones UNL
2025
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| Acceso en línea: | https://bibliotecavirtual.unl.edu.ar/publicaciones/index.php/index/article/view/15017 |
| Aporte de: |
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I26-R133-article-15017 |
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ojs |
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Universidad Nacional del Litoral |
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I-26 |
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R-133 |
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Biblioteca Virtual - Publicaciones (UNL) |
| language |
Español |
| format |
Artículo revista |
| topic |
Fabry disease microvascular angina enzyme replacement therapy hypertrophic cardiomyopath Enfermedad de Fabry angina microvascular reemplazo enzimático miocardiopatía hipertrófica. |
| spellingShingle |
Fabry disease microvascular angina enzyme replacement therapy hypertrophic cardiomyopath Enfermedad de Fabry angina microvascular reemplazo enzimático miocardiopatía hipertrófica. Vignatti, Agustín Oesquer, Alan García, Mauro Furrer, Agustin Chaves, Emiliano Angina microvascular en enfermedad de Fabry: A propósito de un caso |
| topic_facet |
Fabry disease microvascular angina enzyme replacement therapy hypertrophic cardiomyopath Enfermedad de Fabry angina microvascular reemplazo enzimático miocardiopatía hipertrófica. |
| author |
Vignatti, Agustín Oesquer, Alan García, Mauro Furrer, Agustin Chaves, Emiliano |
| author_facet |
Vignatti, Agustín Oesquer, Alan García, Mauro Furrer, Agustin Chaves, Emiliano |
| author_sort |
Vignatti, Agustín |
| title |
Angina microvascular en enfermedad de Fabry: A propósito de un caso |
| title_short |
Angina microvascular en enfermedad de Fabry: A propósito de un caso |
| title_full |
Angina microvascular en enfermedad de Fabry: A propósito de un caso |
| title_fullStr |
Angina microvascular en enfermedad de Fabry: A propósito de un caso |
| title_full_unstemmed |
Angina microvascular en enfermedad de Fabry: A propósito de un caso |
| title_sort |
angina microvascular en enfermedad de fabry: a propósito de un caso |
| description |
Anderson–Fabry disease (AFD), a genetic disorder linked to the X chromosome, is caused by mutations in the gene encoding the enzyme α-galactosidase A. The resulting enzyme deficiency leads to a systemic lysosomal accumulation of alpha-galactosyl residues in glycolipids and glycoproteins. In AFD, myocardial ischemia is caused by an increased oxygen demand in the hypertrophic myocardium, which is exacerbated by reduced capillary density and small vessel compromise due to glycolipid deposits. Enzyme replacement therapy (ERT) is the treatment of choice for this form of microvascular angina. We present the case of a 60-year-old obese, hypothyroid female with a personal and family history of Fabry disease, diagnosed 20 years prior. She had discontinued her specific enzyme replacement treatment (agalsidase alfa) and was a carrier of an implantable cardioverter-defibrillator (ICD) for primary prevention. She was admitted to the Cardiology department of J. M. Cullen Hospital due to two months of oppressive, central chest pain. The pain, classified as functional class II, resolved with rest. The physical exam was unremarkable. The electrocardiogram showed no acute ischemic changes, and cardiac biomarkers were not elevated. An echocardiogram revealed severe concentric left ventricular hypertrophy with severely depressed systolic function due to diffuse global hypokinesis, as well as hypertrophy of the right ventricular free wall. A previous echocardiogram had shown preserved left ventricular systolic function. Coronary angiography did not show significant lesions in the epicardial vessels. The patient's condition was interpreted as microvascular angina secondary to AFD. She restarted enzyme replacement therapy, and her symptoms resolved. Microvascular angina is the most frequent cause of chest pain in AFD patients due to microvascular compromise from glycolipid deposits, and enzyme replacement therapy is the most effective treatment for this condition. |
| publisher |
Ediciones UNL |
| publishDate |
2025 |
| url |
https://bibliotecavirtual.unl.edu.ar/publicaciones/index.php/index/article/view/15017 |
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I26-R133-article-150172025-11-18T13:06:40Z Angina microvascular en enfermedad de Fabry: A propósito de un caso Microvascular angina in Fabry disease: A case report Vignatti, Agustín Oesquer, Alan García, Mauro Furrer, Agustin Chaves, Emiliano Fabry disease microvascular angina enzyme replacement therapy hypertrophic cardiomyopath Enfermedad de Fabry angina microvascular reemplazo enzimático miocardiopatía hipertrófica. Anderson–Fabry disease (AFD), a genetic disorder linked to the X chromosome, is caused by mutations in the gene encoding the enzyme α-galactosidase A. The resulting enzyme deficiency leads to a systemic lysosomal accumulation of alpha-galactosyl residues in glycolipids and glycoproteins. In AFD, myocardial ischemia is caused by an increased oxygen demand in the hypertrophic myocardium, which is exacerbated by reduced capillary density and small vessel compromise due to glycolipid deposits. Enzyme replacement therapy (ERT) is the treatment of choice for this form of microvascular angina. We present the case of a 60-year-old obese, hypothyroid female with a personal and family history of Fabry disease, diagnosed 20 years prior. She had discontinued her specific enzyme replacement treatment (agalsidase alfa) and was a carrier of an implantable cardioverter-defibrillator (ICD) for primary prevention. She was admitted to the Cardiology department of J. M. Cullen Hospital due to two months of oppressive, central chest pain. The pain, classified as functional class II, resolved with rest. The physical exam was unremarkable. The electrocardiogram showed no acute ischemic changes, and cardiac biomarkers were not elevated. An echocardiogram revealed severe concentric left ventricular hypertrophy with severely depressed systolic function due to diffuse global hypokinesis, as well as hypertrophy of the right ventricular free wall. A previous echocardiogram had shown preserved left ventricular systolic function. Coronary angiography did not show significant lesions in the epicardial vessels. The patient's condition was interpreted as microvascular angina secondary to AFD. She restarted enzyme replacement therapy, and her symptoms resolved. Microvascular angina is the most frequent cause of chest pain in AFD patients due to microvascular compromise from glycolipid deposits, and enzyme replacement therapy is the most effective treatment for this condition. La enfermedad de Anderson-Fabry (EAF) o enfermedad de Fabry es una patología de herencia genética ligada al cromosoma X, derivada de mutaciones en el gen que codifica la enzima α-galactosidasa. El déficit de dicha enzima genera depósito lisosomal sistémico de residuos alfa-galactosil terminales de glicolípidos y glicoproteínas. La isquemia miocárdica en Fabry se produce por aumento de la demanda de oxígeno del miocardio hipertrófico, debido a la disminución de la densidad capilar y compromiso de los pequeños vasos por depósito de estos glicolípidos. El reemplazo enzimático constituye el tratamiento de elección para este tipo de angina microvascular. Paciente femenina de 60 años, con obesidad e hipotiroidismo, antecedentes familiares y personales de enfermedad de Fabry diagnosticada 20 años antes y tratamiento específico de reemplazo enzimático (Agalsidasa alfa), el cual abandonó. Es portadora de un cardiodesfibrilador implantable (CDI) por prevención primaria. Ingresó al servicio de Cardiología del Hospital J. M. Cullen, por episodios de dolor centrotorácico opresivo de 2 meses de evolución, clase funcional II, que cedían con el reposo. No presentaba hallazgos patológicos en el examen físico. Sin cambios isquémicos en el electrocardiograma ni elevación de biomarcadores cardíacos. Se realizó ecocardiograma que evidenció hipertrofia ventricular izquierda concéntrica severa con función sistólica deprimida severa a expensas de hipoquinesia global y difusa, e hipertrofia de la pared libre del ventrículo derecho, destacándose que en ecocardiograma previo presentaba función sistólica ventricular izquierda conservada. Se realizó cinecoronariografía la cual no mostró lesiones significativas de los vasos epicárdicos. Se interpretó como angina microvascular secundaria a EAF. Se reinició tratamiento de reemplazo enzimático con el cual la paciente se mantuvo asintomática. La angina microvascular es la causa más frecuente de dolor torácico en pacientes con EAF, debido al compromiso de la microvasculatura por el depósito de glucolípidos, siendo el reemplazo enzimático el tratamiento más eficaz para esta entidad. Ediciones UNL 2025-11-14 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion application/pdf https://bibliotecavirtual.unl.edu.ar/publicaciones/index.php/index/article/view/15017 10.14409/sigme.2025.4.e0027 SigMe; Núm. 4 (2025): SigMe; e0027 3008-8917 3008-7546 10.14409/sigme.2025.4 es https://bibliotecavirtual.unl.edu.ar/publicaciones/index.php/index/article/view/15017/20697 Derechos de autor 2025 Agustín Vignatti, Alan Oesquer, Mauro García, Agustin Furrer, Emiliano Chaves https://creativecommons.org/licenses/by-nc-sa/4.0 |