Electronic Resource
From the phenotype to precision medicine: An update on the cardiomyopathies diagnostic workflow
| العنوان: | From the phenotype to precision medicine: An update on the cardiomyopathies diagnostic workflow |
|---|---|
| المؤلفون: | Autore, C, Bariani, R, Bauce, B, Biagini, E, Canepa, M, Castelletti, S, Crotti, L, Limongelli, G, Merlo, M, Monda, E, Pio Loco Detto Gava, C, Parisi, V, Tini, G, Imazio, M, Autore C., Bariani R., Bauce B., Biagini E., Canepa M., Castelletti S., Crotti L., Limongelli G., Merlo M., Monda E., Pio Loco Detto Gava C., Parisi V., Tini G., Imazio M. |
| بيانات النشر: | Lippincott Williams and Wilkins country:US 2023 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | 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. |
| مصطلحات الفهرس: | arrhythmogenic cardiomyopathy, dilated cardiomyopathy, hypertrophic cardiomyopathy, precision medicine, RASopathie, info:eu-repo/semantics/article |
| URL: | info:eu-repo/semantics/altIdentifier/pmid/37186568 info:eu-repo/semantics/altIdentifier/wos/WOS:001069752300009 volume:24 firstpage:178 lastpage:186 numberofpages:9 journal:JOURNAL OF CARDIOVASCULAR MEDICINE |
| الاتاحة: | Open access content. Open access content |
| ملاحظة: | STAMPA English |
| Other Numbers: | ITBAO oai:boa.unimib.it:10281/467707 10.2459/JCM.0000000000001424 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85159469439 1427430779 |
| المصدر المساهم: | BICOCCA OPEN ARCH From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1427430779 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |