精准医学时代的儿童和青少年心肌病。

Ana Flávia Mallheiros Torbey, Raquel Germer Toja Couto, Aurea Grippa, Eduarda Corrêa Maia, Sara Aimée Miranda, Marcos Adriano Cardoso Dos Santos, Elion Tavares Peres, Olimpio Patrick Silva Costa, Everton Mattos de Oliveira, Evandro Tinoco Mesquita
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引用次数: 0

摘要

在儿童和青少年时期,心肌病有其自身的特点,是导致心力衰竭、心律失常、猝死和心脏移植的重要原因。由于临床表现各异、病因不同,以及对临床和分子遗传学相关工具的了解有限,因此诊断在日常实践中是一项挑战。然而,识别不同的表型并优先寻找病因至关重要。精准医学的最新进展已使分子诊断成为可能,从而使个体化治疗方法、预后分层和识别家族中的高危人群成为可能。本综述旨在强调儿科心肌病的特殊性,以及个体化方法如何影响患者的治疗和预后。通过系统化的方法,介绍了我们服务中使用的五阶段方案。这五个阶段包括临床评估以确定形态功能表型、病因鉴定、分类、预后判断以及寻找个性化疗法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cardiomyopathy in Children and Adolescents in the Era of Precision Medicine.

In childhood and adolescence, cardiomyopathies have their own characteristics and are an important cause of heart failure, arrhythmias, sudden death, and indication for heart transplantation. Diagnosis is a challenge in daily practice due to its varied clinical presentation, heterogeneous etiologies, and limited knowledge of tools related to clinical and molecular genetics. However, it is essential to recognize the different phenotypes and prioritize the search for the etiology. Recent advances in precision medicine have made molecular diagnosis accessible, which makes it possible to individualize therapeutic approaches, stratify the prognosis, and identify individuals in the family who are at risk of developing the disease. The objective of this review is to emphasize the particularities of cardiomyopathies in pediatrics and how the individualized approach impacts the therapy and prognosis of the patient. Through a systematized approach, the five-stage protocol used in our service is presented. These stages bring together clinical evaluation for determining the morphofunctional phenotype, identification of etiology, classification, establishment of prognosis, and the search for personalized therapies.

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