Precision Medicine in Cardiomyopathy: Advances and Future Directions.

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Mahvish Mehdi, Sushma Verma, Bashir Ahmad Mir, Shrikant Verma, Aliya Abbas Rizvi, Asma Imran Ansari, Mohammad Abbas, Farzana Mahdi
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引用次数: 0

Abstract

This review explores how precision medicine is transforming the diagnosis, classification, and treatment of cardiomyopathies. It focuses on the integration of genetic profiling, biomarkers, and imaging to deliver more tailored and effective care. We review major cardiomyopathy subtypes: hypertrophic, dilated, restrictive, and arrhythmogenic right ventricular, with a focus on genetic drivers, including mitochondrial mutations. Pediatric forms are discussed in the context of syndromic and non-syndromic differences. We highlight the clinical value of combining biomarkers (molecular and serological) with imaging modalities, such as echocardiography, for better risk stratification, especially in predicting sudden cardiac death. The utility of animal models in translating genetic findings into disease understanding is also emphasized. Finally, we touch on innovations like genome editing, gene therapies, and pharmacogenomics for personalized treatment. Precision medicine offers a promising future for cardiomyopathy care. By targeting the underlying causes and tailoring treatment to each patient's genetic and molecular profile, we can achieve more accurate diagnoses, better risk prediction, and improved outcomes, bringing us closer to truly individualized cardiovascular care.

心肌病的精准医学:进展和未来方向。
这篇综述探讨了精准医学如何改变心肌病的诊断、分类和治疗。它侧重于基因图谱、生物标志物和成像的整合,以提供更有针对性和更有效的护理。我们回顾了主要的心肌病亚型:肥厚性、扩张性、限制性和心律失常性右心室,重点是遗传驱动因素,包括线粒体突变。小儿形式讨论的背景下,综合症和非综合症的差异。我们强调将生物标志物(分子和血清学)与超声心动图等成像方式相结合的临床价值,以更好地进行风险分层,特别是在预测心源性猝死方面。还强调了动物模型在将遗传发现转化为疾病理解方面的效用。最后,我们谈到了基因组编辑、基因疗法和用于个性化治疗的药物基因组学等创新。精准医学为心肌病治疗提供了广阔的前景。通过针对潜在原因和针对每个患者的遗传和分子特征定制治疗,我们可以实现更准确的诊断,更好的风险预测和改善的结果,使我们更接近真正的个体化心血管护理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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