By Gaetano Thiene MD, Andrea Nava MD (auth.), Frank I. Markus, Andrea Nava, Gaetano Thiene (eds.)
This booklet covers all features (biological, pathological, genetic, medical and therapeutical) of arrhythmogenic correct ventricular cardiomyopathy/dysplasia, a contemporary cardiomyopathy which represents a truly excessive chance of surprising loss of life within the younger and in athletes. The monograph provides the result of 5-year learn application on ARVC/D supported through offers of either the ecu fee and the NIH, which enabled the invention of 7 disease-causing genes, hence commencing new avenues for the early id of affected sufferers and for surprising demise prevention.
A panel of best scientists, either eu and americans, contributed to this quantity, so as to be an important reference for pros and citizens in cardiology, radiology, human genetics, and recreation medicine.
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Extra info for Arrhythmogenic RV Cardiomyopathy/Dysplasia: Recent Advances
J Am Coll Cardiol 42:319-327 17. Narin N, Akcakus M, Gunes T et al (2003) Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): Report of a Turkish boy. Pacing Clin Electrophysiol 26:2326-2329 18. Buhari I, Juma’a N (2004) Naxos disease in Saudi Arabia. J Eur Acad Dermatol Venereol 18:614-616 19. Uzumcu A, Norgett EE, Dindar A et al (2006) Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet 43:e5 20. Protonotarios N, Tsatsopoulou A, Fontaine G (2001) Naxos disease: Keratoderma, scalp modifications, and cardiomyopathy.
In 17 (39%) gene mutation carriers, the 2D echocardiogram showed kinetic alterations of the RV, whereas mild structural abnormalities as trabecular thickening and/or highly reflective moderator band were found in 26 affected subjects (60%). Left ventricular volume and kinetics were normal in all subjects. In the nine subjects who underwent EP study, ventricular arrhythmias were not induced, even during isoproterenol infusion. Beta-blocker therapy was administered to the 26 patients with exercise-induced PVA and the exercise test showed the disappearance of PVA in 17 (65%).
Moreover, the authors pointed out that while up to 15% fatty replacement is distinctly abnormal in the right ventricular outflow tract or posterior wall, it is probably normal in the anterior wall near the apex. Tansey et al.  found that 85% of hearts from people who died of noncardiac causes contained at least some intramyocardial fatty tissue, in the absence of fibrosis or inflammation, with significantly more fat replacement noted in the right ventricle of older subjects and in females than in males.