Çimen Tolga, Medeiros-Domingo Argelia, Kolios Antonios, Akdiş Deniz, Anwer Shehab, Tanner Felix C, Brunckhorst Corinna, Duru Firat, Saguner Ardan M
Department of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, Switzerland.
Swiss DNAlysis Laboratory, 8600 Dubendorf, Switzerland.
J Clin Med. 2023 Jan 24;12(3):913. doi: 10.3390/jcm12030913.
Cardiocutaneous syndrome (CCS) is often caused by genetic variants in desmoplakin () in the presence of thick calluses on the hands and soles of the feet (palmoplantar keratoderma) in combination with arrhythmogenic cardiomyopathy. In this case report, we describe a 58-year-old man presenting with a history of cardiomyopathy with recurrent sustained ventricular tachycardia and palmoplantar keratosis. The cardiological evaluation showed biventricular cardiomyopathy, and repeated genetic testing identified a novel variant. Repeated genetic testingis clinically meaningful in patients with a high probability of a specific inherited cardiac disease, such as CCS, particularly if molecular screening has been performed in the pre-NGS era with an incomplete NGS panel or outdated technology as presented in this case report.
心脏皮肤综合征（CCS）通常由桥粒斑蛋白（DSP）的基因变异引起，伴有手掌和足底的厚茧（掌跖角化病），并合并致心律失常性心肌病。在本病例报告中，我们描述了一名58岁男性，有心肌病病史，伴有反复发作的持续性室性心动过速和掌跖角化症。心脏评估显示为双心室心肌病，重复基因检测发现了一种新的DSP变异。对于具有特定遗传性心脏病高概率的患者，如CCS，重复基因检测具有临床意义，特别是如果在本病例报告中所呈现的那样，在二代测序（NGS）时代之前使用不完整的NGS检测板或过时技术进行了分子筛查。
