From the phenotype to precision medicine: an update on the cardiomyopathies diagnostic workflow

Author:

Autore Camillo1,Bariani Riccardo2,Bauce Barbara2,Biagini Elena3,Canepa Marco45,Castelletti Silvia6,Crotti Lia67,Limongelli Giuseppe8,Merlo Marco9,Monda Emanuele8,Pio Loco detto Gava Carola9,Parisi Vanda3,Tini Giacomo1,Imazio Massimo10

Affiliation:

1. Department of Clinical and Molecular Medicine, Sapienza University of Rome, Rome

2. Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua

3. Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy and European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart

4. Department of Internal Medicine, Università degli Studi di Genova

5. Cardiovascular Unit, IRCCS Ospedale Policlinico San Martino, Genova

6. Istituto Auxologico Italiano, IRCCS San Luca Hospital, Cardiology Department Milan

7. University of Milano-Bicocca, Department of Medicine and Surgery, Milan

8. Dipartimento di Scienze Mediche Traslazionali -Università della Campania ‘Luigi Vanvitelli’ - Osp. Monaldi, AORN Colli, Ospedale Monaldi, Napoli

9. Centre for Diagnosis and Management of Cardiomyopathy, Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI) and University of Trieste, Trieste

10. Dipartimento Cardiotoracico, Ospedale Santa Maria della Misericordia, Azienda Sanitaria Universitaria del Friuli Centrale (ASUFC), Udine, Italy

Abstract

Cardiomyopathies are disease of the cardiac muscle largely due to genetic alterations of proteins with ‘structural’ or ‘functional’ roles within the cardiomyocyte, going from the regulation of contraction-relaxation, metabolic and energetic processes to ionic fluxes. Modifications occurring to these proteins are responsible, in the vast majority of cases, for the phenotypic manifestations of the disease, including hypertrophic, dilated, arrhythmogenic and restrictive cardiomyopathies. Secondary nonhereditary causes to be excluded include infections, toxicity from drugs or alcohol or medications, hormonal imbalance and so on. Obtaining a phenotypic definition and an etiological diagnosis is becoming increasingly relevant and feasible, thanks to the availability of new tailored treatments and the diagnostic advancements made particularly in the field of genetics. This is, for example, the case for transthyretin cardiac amyloidosis, Fabry disease or dilated cardiomyopathies due to laminopathies. For these diseases, specific medications have been developed, and a more tailored arrhythmic risk stratification guides the implantation of a defibrillator. In addition, new medications directly targeting the altered protein responsible for the phenotype are becoming available (including the myosin inhibitors mavacantem and aficamten, monoclonal antibodies against Ras-MAPK, genetic therapies for sarcoglycanopathies), thus making a precision medicine approach less unrealistic even in the field of cardiomyopathies. For these reasons, a contemporary approach to cardiomyopathies must consider diagnostic algorithms founded on the clinical suspicion of the disease and developed towards a more precise phenotypic definition and etiological diagnosis, based on a multidisciplinary methodology putting together specialists from different disciplines, facilities for advanced imaging testing and genetic and anatomopathological competencies.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Cardiology and Cardiovascular Medicine,General Medicine

Reference96 articles.

Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3