Left-dominant arrhythmogenic cardiomyopathy: an association with desmoglein-2 gene mutation-a case report.
Left-dominant arrhythmogenic cardiomyopathy: an association with desmoglein-2 gene mutation-a case report.
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左显性遗传性心肌病：与桥粒芯糖蛋白2基因突变相关-病例报告。
DOI：
10.1093/ehjcr/ytab213
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发表时间：
2021-06
期刊：
影响因子：
--
通讯作者：
Al-Quthami A
中科院分区：
文献类型：
--
作者：
Lao N;Laiq Z;Courson J;Al-Quthami A
桥粒是心脏细胞和上皮细胞间的特化细胞间粘附连接，通过糖蛋白提供细胞间机械偶联，其中一种是桥粒蛋白（DSG）。DSG-2突变常与双室性心律失常性心肌病（ACM）相关。我们报告一例左显性ACM患者最初被误诊为扩张型心肌病（DCM）。一个28岁的女人被发现有中度降低左心室（LV）收缩功能和频繁的室性早搏（早搏）。基因检测结果显示，在DSG-2基因外显子15中发现了与ACM相关的杂合致病变异（c.3059_3062del; p.Glu1020Alafs*18）。随后的心脏磁共振（CMR）成像显示心外膜和心肌中部脂肪浸润累及多个左室壁段，心肌中部多区纤维化/瘢痕，局部运动障碍累及两个心室，左心室射血分数总体降低。患者右心室腔大小及右心室整体收缩功能正常。根据患者频繁室性早搏、家族史、多室壁段纤维脂肪性心肌置换、多室壁段运动障碍（主要影响左室），诊断为左显性ACM。在室性心律失常和有心源性猝死家族史的患者中发现可能与ACM相关的致病突变，增加了ACM的可能性。随后的CMR成像通过显示区域双心室运动障碍和纤维脂肪心肌替代的特征性模式证实了左显性ACM的诊断。我们的病例强调了靶向基因检测和先进的心脏成像在区分左显性ACM和DCM中的重要性。
Desmosomes are specialized intercellular adhesive junctions of cardiac and epithelial cells that provide intercellular mechanical coupling through glycoproteins, one of which is desmoglein (DSG). DSG-2 mutations are frequently associated with biventricular arrhythmogenic cardiomyopathy (ACM). We report a case of left-dominant ACM in a patient who initially was misclassified as dilated cardiomyopathy (DCM). A 28-year-old-woman was found to have a moderately reduced left ventricular (LV) systolic function and frequent premature ventricular contractions (PVCs). Targeted genetic testing revealed a heterozygous likely pathogenic variant associated with ACM in exon 15 of the DSG-2 gene (c.3059_3062del; p.Glu1020Alafs*18). Subsequent cardiac magnetic resonance (CMR) imaging showed epicardial and mid-myocardial fatty infiltration involving multiple LV wall segments, multiple areas of mid-myocardial fibrosis/scar, regional dyskinesis involving both ventricles, and an overall reduced left ventricular ejection fraction. The patient’s right ventricular (RV) cavity size and overall RV systolic function were normal. Based on the patient’s frequent PVCs, family history, fibrofatty myocardial replacement in multiple LV segments, and dyskinetic motion of multiple ventricular wall segments (predominantly affecting the LV), the patient was diagnosed with left-dominant ACM. Identifying a likely pathogenic mutation associated with ACM in a patient with ventricular arrhythmias and a family history of sudden cardiac death increased the possibility of ACM. Subsequent CMR imaging confirmed the diagnosis of left-dominant ACM by demonstrating regional biventricular dyskinesia and a characteristic pattern of fibrofatty myocardial replacement. Our case highlights the importance of targeted genetic testing and advanced cardiac imaging in distinguishing left-dominant ACM from DCM.
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