McGregor Stephanie M, Husain Aliya N
From the Department of Pathology, University of Chicago Medicine, Chicago, Illinois.
Arch Pathol Lab Med. 2015 Sep;139(9):1181-6. doi: 10.5858/arpa.2014-0114-RS.
Arrhythmogenic cardiomyopathy (AC) has traditionally been regarded as a rare disease with variably penetrant autosomal-dominant inheritance. Recent years have revealed that AC is actually a spectrum of disease with prevalence much higher than previously thought. Diagnosis can be quite challenging because of highly variable clinical presentation, even among family members sharing a mutation. Unlike other cardiomyopathies, AC has a concealed phase during which patients have arrhythmias in the absence of structural heart disease but remain at risk of sudden cardiac death. Importantly, it is in the setting of sudden cardiac death that pathologists are most likely to encounter AC. It is critical that these findings not be overlooked, as family members of the deceased may also be affected and could potentially avoid such a dismal outcome. With time, advances in ancillary studies are likely to expand the role for pathologists in AC diagnosis.
致心律失常性心肌病（AC）传统上被认为是一种罕见疾病，具有可变外显率的常染色体显性遗传。近年来发现，AC实际上是一种疾病谱，其患病率远高于此前的认知。由于临床表现高度可变，即使是携带相同突变的家庭成员之间也存在差异，因此AC的诊断颇具挑战性。与其他心肌病不同，AC有一个隐匿期，在此期间患者在无结构性心脏病的情况下出现心律失常，但仍有心脏性猝死风险。重要的是，正是在心脏性猝死的情况下，病理学家最有可能遇到AC。必须重视这些发现，因为死者的家庭成员也可能受到影响，有可能避免如此悲惨的结局。随着时间推移，辅助研究的进展可能会扩大病理学家在AC诊断中的作用。
