The African Cardiomyopathy and Myocarditis Registry Programme

拟议的非洲心肌病和心肌炎登记计划提供了一个机会来研究一系列不同类型的心肌病。遗传性心肌病值得密切研究，因为它们经常出现在年轻人身上，是医疗残疾和死亡的主要原因。正确识别患病个体的致病突变（DNA错误）可能为亲属之间是否存在该疾病提供金标准诊断标记。家庭筛查提供了一个独特的机会，可以提供早期诊断、风险分层和预防干预或在疾病过程的早期。在世界上许多地方，遗传性心脏病的基因检测已经成为标准的治疗方法。在非洲，遗传检测在诊断和管理遗传性心肌病患者方面的成本效益尚未确定。心肌病和基因检测的复杂性日益支持一种由遗传学家和遗传咨询师组成的专家小组参与的临床护理模式，而这种模式在非洲大陆并不容易获得。ACMR将为开发适当的国家心脏遗传学服务提供基础。

The proposed African Cardiomyopathy and Myocarditis Registry Programme provides an opportunity to study a range of different types of cardiomyopathy. Genetic cardiomyopathies warrant close study because they are often present in younger individuals and are a major cause of medical disability and death. Correctly identifying the disease-causing mutation (mistake in the DNA) in an affected individual potentially affords a gold standard diagnostic marker for the presence or absence of the disease among relatives. Family screening provides a unique opportunity to offer early diagnosis, risk stratification and intervention preventatively or early on in the disease process. In many parts of the world, genetic testing in inherited heart disease has become standard of care. In Africa, the cost-effectiveness of genetic testing in the diagnosis and management of patients with inherited cardiomyopathies has not yet been determined. The complexity of cardiomyopathy and genetic testing increasingly supports a model of clinical care involving a specialist unit with geneticists and genetic counselors,9 which is not readily available on the African continent. The ACMR will provide a foundation on which appropriate national cardiogenetics services can be developed.