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
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 , 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.