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Titlebook: Genetic Cardiomyopathies; A Clinical Approach Gianfranco Sinagra (Professor of Cardiology Chief Book 2013 Springer-Verlag Italia 2013 Card

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发表于 2025-3-21 19:34:07 | 显示全部楼层 |阅读模式
书目名称Genetic Cardiomyopathies
副标题A Clinical Approach
编辑Gianfranco Sinagra (Professor of Cardiology Chief
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概述Numerous tables describing phenotype–genotype correlations of cardiomyopathies.Many original electrocardiographic and echocardiographic images.The glossary facilitates reading and understanding of spe
图书封面Titlebook: Genetic Cardiomyopathies; A Clinical Approach Gianfranco Sinagra (Professor of Cardiology Chief  Book 2013 Springer-Verlag Italia 2013 Card
描述In the last decade, genetics has been emerging as a primary issue in the diagnosis and management of cardiomyopathies. This book is intended to be a state-of-the-art monograph on these diseases, describing their genetic causes, defining the molecular basis and presenting extensive descriptions of genotype–phenotype correlations. Other chapters are focused on the role of clinical observation, on ECG and echocardiography. With its highlight on the most recent discoveries in the field of molecular genetics as well as on the correct clinical approach to patients with heart muscle disease, the book is aimed at physicians and clinical cardiologists with a particular interest in myocardial diseases and in their genetic causes.
出版日期Book 2013
关键词Cardiomyopathies; Genetics; Genotype; Molecular basis; Phenotype
版次1
doihttps://doi.org/10.1007/978-88-470-2757-2
isbn_softcover978-88-470-5844-6
isbn_ebook978-88-470-2757-2
copyrightSpringer-Verlag Italia 2013
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,The Role of Clinical Observation: Red Flag 4 — Cardiomyopathies and Sensorineural Hearing Loss,aring abnormalities may be found in different syndromes, frequently in association with diseases of other organs, but cardio-auditory diseases [.] in the absence of other organ involvement are rare. A typical example is Jervell and Lange-Nielsen syndrome, characterized by congenital deafness, long Q
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,The Role of Clinical Observation: Red Flag 6 — Left Ventricular Non-Compaction,be a rare cardiomyopathy (CMP), with a prevalence of approximately 1:2,000 to 1:7,000 individuals. The condition shows excessive and unusually trabeculated myocardium within the mature heart muscle in the apical and midlateral/inferior portions of the left ventricle, which is usually hypokinetic (.)
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Clinical Genetic Testing in Cardiomyopathies,it became clear that there was no single “reference” DNA sequence, as even the approximately half-dozen human DNA samples used by the Human Genome Project contained tens of thousands of variations [.]. As clinical genetic testing becomes more mainstream, and various projects underway perform full DN
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Concluding Remarks,n [.] and the diagnostic approach was essentially based on the clinical phenotype. The classifications of these diseases, developed to provide order to a complex and rather confused matter, were appropriately considered to be a provisional “bridge between ignorance and knowledge” [.] that would chan
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