What Should the Cardiologist know about Lamin Disease?

心脏病专家应该了解层粘蛋白病哪些知识?

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Abstract

Lamins are intermediate filament proteins able to polymerise and form an organised meshwork underlying the inner nuclear membrane in most differentiated somatic cells. Mutations in the LMNA gene, which encodes the two major lamin A and C isoforms, cause a diverse range of diseases, called laminopathies, including dilated cardiomyopathy, associated with a poor prognosis and high rate of sudden death due to conduction defect and early ventricular arrhythmia. Identification of mutations in LMNA gene in clinical practice is rapidly increasing, as well as comprehensive cardiac and genetic family screening. As a consequence, cardiologists are more and more frequently faced to difficult questions regarding optimal management of patients and relatives, especially timing for prophylactic cardioverter defibrillator. This review focuses on recent data useful for the clinician, as well as therapeutic perspectives both in human and animal models.

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