Cardiovascular involvement in patients with Fabry disease
T. L. Nguyen,
O. N. Kotenko,
V. E. Vinogradov,
R. P. Myasnikov,
D. V. Artemov,
A. N. Semyachkina,
E. V. Reznik https://doi.org/10.15829/1560-4071-2025-6123
EDN: NEIVYF
Abstract
Aim. Retrospective analysis of cardiovascular involvement in a patient with Fabry disease.
Material and methods. This retrospective assessment included 34 cases of Fabry disease (men, 64,7%). The median age of Fabry patients was 43,5 (32,8; 57) years.
Results. Cardiac involvement was detected in 70,6% of patients. Acute cerebro-vascular events were noted in 23,5% of patients aged 32,5 (25,3; 51,5) years. Kidney damage was detected in 82,4% of patients, while hemodialysis was performed in 14,7% of patients. Among 24 patients with Fabry disease with cardiac damage, heart failure was diagnosed in 37,5% of patients. Simpson’s left ventricular (LV) ejection fraction (EF) was 60 (52,6; 66,7)%. LVEF >50% was detected in 83,3% of patients, LVEF of 40-50% — in 16,7% of patients. LV wall thickening was noted in 83,3% of patients, of which 58,3% had LV wall thickness ≥1,5 cm. Small pericardial effusion was detected in 12,5% of patients. LV diastolic dysfunction was detected in 45,8% of patients. Sinus bradycardia was detected in 41,7% of patients. Short PQ interval was detected in 25% of patients, while Wolff-Parkinson-White syndrome was detected in 8,3%.
Conclusion. Cardiac involvement with wall thickening, sinus bradycardia and atrioventricular conduction disorders are frequent manifestations in patients with Fabry disease. Early detection of cardiac involvement and prevention of cardiac events are important to ensure the effectiveness of treatment and improve the quality of life of patients.
About the Authors
T. L. Nguyen
108 Central Military Hospital
Viet Nam
Competing Interests:
Viet Nam
Thanh Luan Nguyen - MD, Ph.D, 108 Central Military Hospital.
Hanoi, postal code: 113000
+84349322269
Competing Interests:
None
O. N. Kotenko
City Clinical Hospital № 52; Research Institute for Healthcare and Medical Management
Russian Federation
Competing Interests:
Russian Federation
Oleg N. Kotenko - MD, PhD, head of the Moscow Clinical and Scientific Center of Nephrology and Kidney Transplant Pathology, Moscow City Hospital 52 of the Moscow Healthcare Department.
Moscow
Competing Interests:
None
V. E. Vinogradov
City Clinical Hospital № 52; Research Institute for Healthcare and Medical Management
Russian Federation
Competing Interests:
Russian Federation
Vladimir E. Vinogradov – nephrologist, Moscow Clinical and Scientific Center of Nephrology and Kidney Transplant Pathology, City Clinical Hospital 52 of the Moscow Healthcare Department, head of the department, Consultative Diagnostic Nephrology Department, City Clinical Hospital 52 of the Moscow Healthcare Department, specialist Organizational and Methodological Department for Nephrology, Research Institute of Healthcare Organization and Medical Management of the Moscow Healthcare Department.
Moscow
Competing Interests:
None
R. P. Myasnikov
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Competing Interests:
Russian Federation
Roman P. Myasnikov - MD, PhD, Leading Researcher, Department of Clinical Cardiology, National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthсare of the Russian Federation.
Moscow
Competing Interests:
None
D. V. Artemov
Vladimirsky Moscow Regional Research Clinical Institute
Russian Federation
Competing Interests:
Russian Federation
Dmitry V. Artemov - MD, PhD, associate professor of the Department of Transplantology, Nephrology and Artificial Organs of the Faculty of Advanced Medicine Moscow Regional Scientific Research Clinical Institute named after M.F. Vladimirsky.
129110, Moscow, Shchepkina str., 61/2
tel.: +7(926)528-96-52, 8(495)681-36-76
Competing Interests:
None
A. N. Semyachkina
Pirogov Russian National Research Medical University
Russian Federation
Competing Interests:
Russian Federation
Alla N. Semyachkina - MD, PhD, Chief Researcher of the Department of Clinical Genetics, Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University.
125412, Moscow, st. Taldomskaya, 2
+79166311109
Competing Interests:
None
E. V. Reznik
Pirogov Russian National Research Medical University; Savelyeva City Clinical Hospital № 31
Russian Federation
Competing Interests:
Russian Federation
Elena V. Reznik - MD, professor, Head of the Department of Propedeutics of Internal Diseases of the Institution of clinical medicine of the Pirogov Russian national research medical University of the Ministry of healthcare of the Russian Federation; Cardiologist of the GBUZ "City Clinical Hospital №31 n.a. acad G.M. Savelieva" of Healthcare Department of Moscow.
Moscow, Lobachevsky street, 42
tel. 89163803923
ResearcherIDN-6856-2016
Competing Interests:
None
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Supplementary files
- Cardiac involvement with wall thickening, atrial fibrillation, atrial tachycardia, ventricular tachycardia, atrioventricular conduction abnormalities, and small vessel involvement are common in patients with Fabry disease, which can lead to dangerous complications such as heart failure, sudden death.
- Cardiac involvement in patients with Fabry disease can easily lead to confusion with patients with hypertrophic cardiomyopathy and other infiltrative cardiac diseases.
- Patients with cardiovascular disease of unknown cause, such as left ventricular wall thickening and preserved left ventricular ejection fraction, especially with renal and/or neurological damage before age 50, should be screened for Fabry disease.
- Patients with proven Fabry disease require a thorough cardiovascular evaluation for timely diagnosis and prevention of complications.
Review
For citations:
Nguyen T.L., Kotenko O.N., Vinogradov V.E., Myasnikov R.P., Artemov D.V., Semyachkina A.N., Reznik E.V. Cardiovascular involvement in patients with Fabry disease. Russian Journal of Cardiology. 2025;30(6):6123. (In Russ.) https://doi.org/10.15829/1560-4071-2025-6123. EDN: NEIVYF
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