Barth Syndrome is a rare X-linked disorder caused by pathogenic variants in the gene TAFAZZIN, which encodes for an enzyme involved in the remodeling of cardiolipin, a phospholipid primarily localized to the inner mitochondrial membrane. Barth Syndrome is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities, among other features. In this review, we will discuss the clinical presentation and natural history of Barth Syndrome, review key features of this disease, and introduce less common clinical associations. Recognition and understanding of the natural history of Barth Syndrome are important for ongoing patient management and developing endpoints for the demonstration of efficacy of new and emerging therapies.

中文翻译：

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Barth 综合征的临床表现和自然史：概述

Barth 综合征是一种罕见的 X 连锁疾病，由TAFAZZIN基因的致病变异引起，该基因编码一种参与心磷脂重塑的酶，心磷脂是一种主要定位于线粒体内膜的磷脂。Barth 综合征的特点是心肌病、骨骼肌病、中性粒细胞减少和生长异常等。在这篇综述中，我们将讨论 Barth 综合征的临床表现和自然病程，回顾这种疾病的主要特征，并介绍不太常见的临床关联。认识和了解 Barth 综合征的自然史对于持续的患者管理和开发终点以证明新疗法和新兴疗​​法的功效非常重要。