■致心律失常性心肌病(ACM)是一种遗传决定的心肌萎缩,从心外膜逐渐向心内膜延伸,导致墙壁变薄。它是年轻人猝死的主要原因之一。验尸研究表明,多达70-80%的病例涉及双心室。可变的外显率和表现力导致广泛的表型谱,挑战先进的多模态成像工具的诊断准确性。提示识别,非侵入性成像,心源性猝死(SCD)的风险分层,预防措施对改善预后至关重要。
■这里,我们介绍了一名22岁的黑人男性,他因心悸被转诊到我们的电生理诊所,远程晕厥,有SCD家族史.超过3年,他的症状性心悸逐渐恶化。虽然体格检查和经胸超声心动图检查不明显,他的心脏磁共振成像与双心室ACM一致.基因检测证实ACM,揭示了DSG2和PKP2的双杂合性。考虑到危及生命的心律失常的估计风险升高,皮下心脏除颤器成功植入.
■经常,ACM患者在同一基因(复合杂合性)或第二个基因(双杂合性)中有一个以上的突变.强烈建议先证者的家庭成员进行遗传咨询。ACM的诊断可能被其他疾病(心脏结节病,扩张型心肌病,淀粉样变性),因此,基因检测可用于确定疾病的存在。本报告概述了临床过程,诊断标准,风险分层,以及ACM患者的预后。
UNASSIGNED: Arrhythmogenic cardiomyopathy (ACM) is a genetically determined myocardial atrophy which progressively extends from the epicardium towards the endocardium, resulting in wall thinning. It is one of the leading causes of sudden death in young people. Postmortem studies demonstrate that up to 70-80% of the cases have biventricular involvement. Variable penetrance and expressivity results in a wide phenotypic spectrum, challenging diagnostic accuracy of advanced multimodality imaging tools. Prompt recognition, non-invasive imaging, risk stratification for sudden cardiac death (SCD), and preventive measures are paramount to improve prognosis.
UNASSIGNED: Here, we present a 22-year-old Black male who was referred to our electrophysiology clinic with palpitations, remote syncope, and a family history of SCD. Over 3 years, he developed gradually worsening symptomatic palpitations. While physical exam and transthoracic echocardiography were unremarkable, his cardiac magnetic resonance imaging was consistent with biventricular ACM. Genetic testing confirmed ACM, revealing double heterozygosity in DSG2 and PKP2. Given the elevated estimated risk of life-threatening dysrhythmias, a subcutaneous cardiac defibrillator was successfully implanted.
UNASSIGNED: Frequently, patients with ACM have more than one mutation in the same gene (compound heterozygosity) or in a second gene (double heterozygosity). Genetic counselling is strongly recommended for family members of the proband. The diagnosis of ACM may be mimicked by other diseases (cardiac sarcoidosis, dilated cardiomyopathy, amyloidosis), thus genetic testing can be useful to determine the presence of the disease. The present report provides an overview of the clinical course, diagnostic criteria, risk stratification, and prognostication for patients with ACM.