Fouda Sami, Godfrey Rebecca, Pavitt Christopher, Alway Thomas, Coombs Steven, Ellery Susan M, Parish Victoria, Silberbauer John, Liu Alexander
West Middlesex Hospital, London TW7 6AF, UK.
Sussex Cardiac Centre, Royal Sussex County Hospital, Brighton BN2 5BE, UK.
J Clin Med. 2025 Feb 27;14(5):1609. doi: 10.3390/jcm14051609.
Cardiac sarcoidosis (CS) and inherited cardiomyopathies (inherited CM) are associated with advanced heart failure, cardiac conduction defects, ventricular arrhythmias and sudden cardiac death. Both conditions can have similar clinical presentations. Differentiating between the two disease cohorts is important in delivering specific management to patients, such as immunosuppressive therapy for CS patients and genetic screening for inherited CM. In this review, we examined the existing evidence on the overlap between CS and common inherited CM, such as hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, restrictive cardiomyopathy and dilated cardiomyopathy. In patients where both CS and inherited CM were implicated, CS tended to be diagnosed much later, often when patients presented with complications warranting a workup or cardiac histological confirmation. CS can masquerade as an inherited CM, leading to delays in the instigation of CS therapy. Confirmed dual pathology overlap between inherited CM and CS is rarer. Advanced cardiac imaging, such as cardiovascular magnetic resonance, plays an important role in the clinical workup of both CS and inherited CM. However, findings on cardiac imaging alone often cannot differentiate between the two conditions. Definitive differentiation between CS and inherited CM requires both clinical experience and, at times, a myocardial biopsy.
心脏结节病(CS)和遗传性心肌病(遗传性CM)与晚期心力衰竭、心脏传导缺陷、室性心律失常和心源性猝死相关。这两种疾病可能有相似的临床表现。区分这两个疾病队列对于为患者提供特定治疗很重要,例如对CS患者进行免疫抑制治疗以及对遗传性CM患者进行基因筛查。在本综述中,我们研究了关于CS与常见遗传性CM(如肥厚型心肌病、致心律失常性心肌病、限制型心肌病和扩张型心肌病)之间重叠的现有证据。在同时涉及CS和遗传性CM的患者中,CS往往诊断得很晚,通常是在患者出现需要进一步检查或心脏组织学确认的并发症时。CS可能会伪装成遗传性CM,导致CS治疗的启动延迟。已证实的遗传性CM和CS之间的双重病理重叠较为罕见。先进的心脏成像技术,如心血管磁共振成像,在CS和遗传性CM的临床检查中都起着重要作用。然而,仅靠心脏成像结果往往无法区分这两种情况。CS和遗传性CM之间的明确区分需要临床经验,有时还需要进行心肌活检。