Cardiac damage in Anderson–Fabry disease (clinical case)

Olga V. Dimitrieva , Izolda V. Karzakova , Vadim E. Babokin , Larisa V. Tarasova , Aleksandra V. Dubova

For citation:

Abstract

The fact that Anderson–Fabry disease is rarely found in clinical practice results in low physicians’ awareness of this disorder, leads to the delayed diagnosis and treatment. A clinical case of delayed diagnosis of the non-classical Anderson–Fabry disease phenotype in a patient with the cardiac lesion in the form of hypertrophic cardiomyopathy, heart rthythm and conduction disturbances is provided. At the same time, the cascade family screening contributed to early diagnosis of Fabry disease in the patient’s brother.
Keywords: Fabry disease, glycophospholipids, hypertrophic cardiomyopathy, replacement therapy, α-galactosidase A-based drugs.

References

1. Schiffmann R, Hughes DA, Linthorst GE et al. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference. Kidney Int 2017;91(2):284293.
2. Michaud M, Mauhin W, Belmatoug N et al. Maladie de Fabry quand y penser ? [Fabry disease: A review]. Rev Med Interne 2021;42(2):110-9. French. DOI: 10.1016/j.revmed.2020.08.019
3. Burton BK, Charrow J, Hoganson GE et al. Newborn screening for lysosomal storage disorders in Illinois: the initial 15-month experience.
J Pediatr 2017;(190):130-5. DOI: 10.1016/j.jpeds.2017.06.048
4. Wanner C, Ortiz A, Wilcox WR et al. Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community. Mol Genet Metab 2023;139(3):107603. DOI: 10.1016/ j.ymgme.2023.107603
5. Тао Е.А., Моисеев А.С., Буланов Н.М. и др. Клинические фенотипы болезни Фабри у 219 взрослых пациентов. Клиническая фармакология и терапия. 2024;33(2):56-62. DOI: 10.32756/0869-5490-2024-2-56-62
Tao E.A., Moiseev A.S., Bulanov N.M. et al. Clinical phenotypes of Fabry disease in 219 adult patients. Clinical pharmacology and therapy. 2024;33(2):56-62. DOI: 10.32756/0869-5490-2024-2-56-62 (in Russian).
6. Sheppard MN. The heart in Fabry’s disease. Cardiovasc Pathol 2011;(2011):8-14.
7. Моисеев А.С., Мершина Е.А., Сафарова А.Ф. и др. Поражение сердца при болезни Фабри: особенности течения и диагностическое значение магнитно-резонансной томографии и speckle-tracking эхокардиографии. DOI: 10.32756/0869-5490-2022-3-22-29
Moiseev A.S., Mershina E.A., Safarova A.F. et al. Heart damage in Fabry disease: features of the course and diagnostic value of magnetic resonance imaging and speckle-tracking echocardiography. DOI: 10.32756/0869-5490-2022-3-22-29 (in Russian).
8. Моисеев А.С., Моисеев С.В., Тао Е.А. и др. Клинические проявления и исходы болезни Фабри у 150 взрослых пациентов. DOI: 10.32756/0869-5490-2021-3-43-51
Moiseev A.S., Moiseev S.V., Tao E.A. et al. Clinical manifestations and outcomes of Fabry disease in 150 adult patients. DOI: 10.32756/0869-5490-2021-3-43-51 (in Russian).
9. Militaru S, Saftoiu A, Streubel B, Jurcut R. New Fabry disease mutation confirms cardiomyopathy aetiology: a case report. Eur Heart J Case Rep 2018;2(4):yty133. DOI: 10.1093/ehjcr/yty133
10. Pieroni M, Moon JC, Arbustini E et al. Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week. J Am Coll Cardiol 2021;77(7):922-36. DOI: 10.1016/j.jacc.2020.12.024
11. Клинические рекомендации «Болезнь Фабри» (одобрены Минздравом России). 2024.
Clinical guidelines "Fabry disease" (approved by the Ministry of Health of Russia). 2024 (in Russian).

Портал CON-MED.RU:
https://con-med.ru/magazines/klinicheskiy_razbor_v_obshchey_meditsine/klinicheskiy_razbor_v_obshchey_meditsine-05-2025/porazhenie_serdtsa_pri_bolezni_andersona_fabri_klinicheskiy_sluchay/

For citation: Dimitrieva O.V., Karzakova I.V., Babokin V.E., Tarasova L.V., Dubova A.V. Cardiac damage in Anderson–Fabry disease (clinical case). Clinical review for general practice. 2025; 6 (5): 29–33 (In Russ.). DOI: 10.47407/kr2025.6.5.00608

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Clinical review for general practice