Sen-Chowdhry Srijita, Syrris Petros, Prasad Sanjay K, Hughes Siân E, Merrifield Robert, Ward Deirdre, Pennell Dudley J, McKenna William J
Inherited Cardiovascular Disease Group, The Heart Hospital, London, United Kingdom.
J Am Coll Cardiol. 2008 Dec 16;52(25):2175-87. doi: 10.1016/j.jacc.2008.09.019.
We sought to investigate the clinical-genetic profile of left-dominant arrhythmogenic cardiomyopathy (LDAC).
In the absence of coronary disease and left ventricular (LV) systolic dysfunction, lateral T-wave inversion and arrhythmia of LV origin are often considered benign. Similarly, chest pain with enzyme release might be attributed to viral myocarditis. We hypothesized that these abnormalities might be manifestations of the "left-dominant" subtype of arrhythmogenic right ventricular cardiomyopathy.
The 42-patient cohort was established through clinical evaluation of individuals with unexplained (infero)lateral T-wave inversion, arrhythmia of LV origin, and/or proven LDAC/idiopathic myocardial fibrosis in the family.
Patients presented from adolescence to age >80 years with arrhythmia or chest pain but not heart failure. Desmosomal mutations were identified in 8 of 24 families (15 of 33 patients). Magnetic resonance findings included LV late-enhancement in a subepicardial/midwall distribution, corresponding to fibrofatty replacement and fibrosis on histopathology. Fifty percent had previously been misdiagnosed with viral myocarditis, dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy, or idiopathic ventricular tachycardia. Arrhythmic events included presentation with ventricular fibrillatory arrest in 1 patient and 2 instances of sudden cardiac death during follow-up.
Arrhythmogenic cardiomyopathy is distinguished from DCM by a propensity towards arrhythmia exceeding the degree of ventricular dysfunction. The left-dominant subtype is under-recognized owing to misattribution to other disorders and lack of specific diagnostic criteria. Clinicians are alerted to the possibility of LDAC in patients of any age with unexplained arrhythmia of LV origin, (infero)lateral T-wave inversion, apparent DCM (with arrhythmic presentation), or myocarditis (chest pain and enzyme rise with unobstructed coronary arteries).
我们试图研究左优势型致心律失常性心肌病（LDAC）的临床-遗传特征。
在无冠心病及左心室（LV）收缩功能障碍的情况下，侧壁T波倒置及左室起源的心律失常常被认为是良性的。同样，伴有酶释放的胸痛可能归因于病毒性心肌炎。我们推测这些异常可能是致心律失常性右室心肌病“左优势型”亚型的表现。
通过对有不明原因的（下）侧壁T波倒置、左室起源的心律失常和/或家族中确诊的LDAC/特发性心肌纤维化患者进行临床评估，建立了一个42例患者的队列。
患者年龄从青少年到80多岁，表现为心律失常或胸痛，但无心力衰竭。在24个家族中的8个（33例患者中的15例）中发现了桥粒基因突变。磁共振成像结果包括心外膜下/中层心肌分布的左室晚期强化，对应于组织病理学上的脂肪纤维组织替代和纤维化。50%的患者曾被误诊为病毒性心肌炎、扩张型心肌病（DCM）、肥厚型心肌病或特发性室性心动过速。心律失常事件包括1例患者出现心室颤动性停搏，随访期间有2例心源性猝死。
致心律失常性心肌病与扩张型心肌病的区别在于心律失常倾向超过心室功能障碍程度。由于被误诊为其他疾病以及缺乏特异性诊断标准，左优势型亚型未得到充分认识。临床医生应警惕任何年龄的患者出现不明原因的左室起源心律失常、（下）侧壁T波倒置、明显的扩张型心肌病（伴有心律失常表现）或心肌炎（胸痛和酶升高且冠状动脉无阻塞）时存在LDAC的可能性。
