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对无阻塞性冠状动脉疾病胸痛患者进行 Fabry 病筛查。

Screening of Fabry Disease in Patients with Chest Pain Without Obstructive Coronary Artery Disease.

机构信息

Hospital Universitario Puerta de Hierro Majadahonda, CIBERCV, Manuel de Falla, 2. Majadahonda, 28222, Madrid, Spain.

Hospital Universitario de Bellvitge, Barcelona, Spain.

出版信息

J Cardiovasc Transl Res. 2021 Oct;14(5):948-950. doi: 10.1007/s12265-020-10097-2. Epub 2021 Jan 20.

DOI:10.1007/s12265-020-10097-2
PMID:33474682
Abstract

Identification of Anderson-Fabry disease (AFD) in cardiac patients has been restricted so far to patients with left ventricular hypertrophy. Coronary microvascular dysfunction has been described in AFD with and without cardiac hypertrophy and may represent the only manifestation in AFD patients, offering a possible earlier diagnosis. We studied the prevalence of AFD in 663 patients with chest pain with normal or non-obstructive coronary arteries. The overall prevalence of AFD in this cohort was only 0.15% (1/663). AFD is not a frequent cause of chest pain without obstructive coronary artery disease and screening efforts should not be conducted in this patient population.

摘要

目前,在心脏患者中,安德森-法布里病(AFD)的鉴定仅限于左心室肥厚的患者。已有研究表明,无论是否存在心肌肥厚,AFD 都会导致冠状动脉微血管功能障碍,且可能是 AFD 患者的唯一表现,为早期诊断提供了可能。我们研究了 663 例胸痛且冠状动脉正常或无阻塞的患者中 AFD 的患病率。该队列中 AFD 的总患病率仅为 0.15%(1/663)。在无阻塞性冠状动脉疾病的胸痛患者中,AFD 并不是常见病因,因此不应在该患者人群中进行筛查。

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Unusual SPECT myocardial perfusion imaging results in the setting of ventricular hypertrophy and non-obstructive coronary artery disease should suggest Anderson-Fabry disease.在心室肥厚和非阻塞性冠状动脉疾病情况下,异常的单光子发射计算机断层扫描(SPECT)心肌灌注成像结果应提示安德森-法布里病。
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引用本文的文献

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Clinical staging of Anderson-Fabry cardiomyopathy: An operative proposal.安德森-法布里心肌病的临床分期:一项手术方案建议。
Heart Fail Rev. 2024 Mar;29(2):431-444. doi: 10.1007/s10741-023-10370-x. Epub 2023 Nov 25.
2
Fabry Disease and the Heart: A Comprehensive Review.《法布瑞病与心脏:全面综述》。
Int J Mol Sci. 2021 Apr 23;22(9):4434. doi: 10.3390/ijms22094434.