Download Arrhythmogenic right ventricular cardiomyopathy dysplasia: by Frank I. Marcus, Andrea Nava, Gaetano Thiene PDF

By Frank I. Marcus, Andrea Nava, Gaetano Thiene

This booklet covers all facets (biological, pathological, genetics, scientific and therapeutical) of arrhythmogenic correct ventricular cardiomyopathy/dysplasia, a up to date cardiomyopathy which represents a really excessive possibility of surprising demise within the younger and in athletes. The monograph provides the result of 5-year study application on ARVC/D supported through delivers of either the eu fee and the NIH, which enabled the invention of seven disease-causing genes, therefore establishing new avenues for the early identity of affected sufferers and for unexpected dying prevention. A panel of best scientists, either eu and american citizens, contributed to this quantity, so one can be a necessary reference for pros and citizens in cardiology, radiology, human genetics, and recreation drugs.

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Additional info for Arrhythmogenic right ventricular cardiomyopathy dysplasia: Recent Advances

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There are no guidelines for management of these healthy carriers of the disease. Since a myocardial stretching may facilitate the onset and progression of the disease, as also confirmed by recent studies on animal models carrying a mutation [28], in these kind of subjects we allow only a limited physical activity without isotonic efforts, whereas a competitive physical activity is always prohibited. 3. Identification of a genetic mutation in a subject with minor signs of the disease. In this case we can assume that a mild anatomic abnormality is present.

7 • A 15-year-old boy, family member of a proband affected by ARVC/D due to desmoplakin mutation, who died suddenly at rest despite negative cardiological screening. (a) 12 lead ECG with incomplete right bundle branch block. (b) Cross section of the heart: there is no macroscopic evidence of fatty tissue infiltration or aneurysm, whereas a gray band is evident in the subepicardial postero-lateral region. (c) Panoramic histologic view of the postero-lateral left ventricular wall showing a subepicardial band of acute-subacute myocyte necrosis with loose fibrous tissue and granulation tissue (trichrome Heidenhain).

Protonotarios N, Tsatsopoulou A, Fontaine G (2001) Naxos disease: Keratoderma, scalp modifications, and cardiomyopathy. J Am Acad Dermatol 44:309-310 21. Kaplan SR, Gard JJ, Carvajal-Huerta L et al (2004) Structural and molecular pathology of the heart in Carvajal syndrome. Cardiovasc Pathol 13:26-32 22. Coonar AS, Protonotarios N, Tsatsopoulou A et al (1998) Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.

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