桥粒蛋白
医学
心脏病学
心肌病
内科学
室性心动过速
品脱1
耐火材料(行星科学)
心力衰竭
疾病
遗传学
基因
生物
天体生物学
帕金
帕金森病
作者
Akshay Mathavan,Urszula Krekora,Minia Campos Domínguez,Akash Mathavan
出处
期刊:Case Reports
[BMJ]
日期:2024-02-01
卷期号:17 (2): e259308-e259308
标识
DOI:10.1136/bcr-2023-259308
摘要
Arrhythmogenic cardiomyopathy is a non-ischaemic cardiomyopathy characterised by the presence of myocardial dysfunction and inherited conduction disease that predisposes patients to malignant ventricular arrhythmias and sudden cardiac death. There is a growing awareness of the diverse phenotypic presentation of arrhythmogenic cardiomyopathy, which may demonstrate preferential involvement of the left, right or both ventricles. A subset of arrhythmogenic cardiomyopathy may be due to mutations of desmosomes, intercellular junctions of the myocardium that promote structural and electrical integrity. Mutations of desmoplakin, encoded by the DSP gene and a critical constituent protein of desmosomes, have been implicated in the onset of arrhythmogenic cardiomyopathy. We present a structured case report of desmoplakin arrhythmogenic cardiomyopathy secondary to novel heterozygous DSP mutations (c.1061T>C and c.795G>C) manifesting as early onset non-ischaemic cardiomyopathy and recurrent ventricular tachycardia refractory to multiple modalities of therapy, including oral antiarrhythmics, cardiac ablation and bilateral sympathectomy, as well as frequent implantable cardioverter-defibrillator discharges.
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