By Gaetano Thiene MD, Andrea Nava MD (auth.), Frank I. Markus, Andrea Nava, Gaetano Thiene (eds.)
This ebook covers all points (biological, pathological, genetic, medical and therapeutical) of arrhythmogenic correct ventricular cardiomyopathy/dysplasia, a contemporary cardiomyopathy which represents a truly excessive probability of surprising dying within the younger and in athletes. The monograph offers the result of 5-year learn software on ARVC/D supported through offers of either the ecu fee and the NIH, which enabled the invention of 7 disease-causing genes, therefore commencing new avenues for the early identity of affected sufferers and for surprising demise prevention.
A panel of best scientists, either ecu and americans, contributed to this quantity, as a way to be an important reference for execs and citizens in cardiology, radiology, human genetics, and recreation medicine.
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Extra info for Arrhythmogenic RV Cardiomyopathy/Dysplasia: Recent Advances
McKenna WJ, Thiene G, Nava A et al (1994) Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Br Heart J 71:215-218 22. Syrris P, Ward D, Asimaki A et al (2006) Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation 113:356-364 23. Antoniades L, Tsatsopoulou A, Anastasakis A et al (2006) Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: Genotype-phenotype relations, diagnostic features and prognosis.
60] reported two cases of sudden cardiac death with histopathological analysis, one showing extensive left ventricular fibrolipomatous in- 38 Cristina Basso, Gaetano Thiene filtration in the setting of a completely normal right ventricle. In 1995 Okabe et al.  first proposed the possibility of isolated “arrhythmogenic left ventricular dysplasia,” by reporting an unusual case of a patient who presented with ventricular tachycardia originating from the left ventricle who had severe left ventricular dysfunction and who eventually developed intractable heart failure.
It is also advisable to suggest frequent noninvasive clinical evaluation (ECG, SAECG, Holter, stress test, 2D-Ecocardiogram) in the follow-up. Results of genotype-phenotype studies in ARVC/D families should help to establish appropriate clinical management in mutations carriers. 26 Barbara Bauce, Andrea Nava In our experience the detection of a genetic mutation in a proband or family member may pose different management problems depending on circumstances as described below: 1. Presence of an ARVC/D genetic mutation in an affected proband.