Hidden Bibliographic Details
Other authors / contributors: | Sinagra, Gianfranco, editor.
Merlo, Marco, MD, editor.
Pinamonti, Bruno, editor.
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ISBN: | 9783030138639 3030138631 9783030138646 303013864X 9783030138653 3030138658 9783030138660 3030138666
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Digital file characteristics: | text file PDF
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Notes: | Includes bibliographical references. Open access. Open Access. Description based on online resource; title from Bookshelf title screen (viewed May 27, 2020).
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Summary: | Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by left ventricular or biventricular dilation and systolic dysfunction in the absence of either pressure or volume overload or coronary artery disease sufficient enough to explain the dysfunction. DCM is currently a relatively benign disease, with concrete treatment strategies and solid therapeutic regimens. However, clinical management of DCM patients is still one of the most challenging scenarios even for tertiary referral centers. DCM patients are usually young (between their 30s and 50s), still of working age with usually a solid economic and social background. Several pitfalls may be present during diagnostic workup and risk stratification of these patients. First of all, DCM is usually a mostly genetically determined disease. Indeed, the novel techniques of DNA sequencing revealed that genetically determined DCMs are vastly more common than once believed and it is far from being a monogenic disease, with multiple unknown epigenetic interactions. The incomplete penetrance and the epigenetic regulations are responsible for the so-called genotype-positive-phenotype-negative patients. Therefore, the management of information derived from genetic testing, both for probands and for relatives, is still debated and not definite. The continuous effort of researchers to identify the mechanism underlying the disease is fundamental to improving the survival of those patients.
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Other form: | Print version: Sinagra, Gianfranco. Dilated Cardiomyopathy : From Genetics to Clinical Management. Cham : Springer, ©2019 9783030138639
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Standard no.: | 10.1007/978-3-030-13864-6 10.1007/978-3-030-13
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