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

By Frank I. Marcus, Andrea Nava, Gaetano Thiene

ISBN-10: 8847004896

ISBN-13: 9788847004894

ISBN-10: 884700490X

ISBN-13: 9788847004900

This publication covers all points (biological, pathological, genetics, medical and therapeutical) of arrhythmogenic correct ventricular cardiomyopathy/dysplasia, a contemporary cardiomyopathy which represents a truly excessive chance of unexpected demise within the younger and in athletes. The monograph provides the result of 5-year learn software on ARVC/D supported through provides of either the eu fee and the NIH, which enabled the invention of seven disease-causing genes, hence beginning new avenues for the early id of affected sufferers and for unexpected loss of life prevention. A panel of most sensible scientists, either eu and americans, contributed to this quantity, to be able to be a necessary reference for execs and citizens in cardiology, radiology, human genetics, and game medication.

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Sample text

7] found a 76% incidence (32 cases) of left ventricular involvement in a study of 42 hearts from six European centers, all with fibro-fatty or mainly fibrous pattern. Fifteen showed only histologic changes, whereas 17 had both gross and histologic evidence of left ventricular involvement. A study from Canada by Lobo et al. [54] found that 45% of hearts of ARVC/D showed left ventricular fibrous scars, although coronary atherosclerosis coexisted in some. In another North American series by Burke et al.

In nine subjects arrhythmic symptoms CHAPTER 3 • Genotype-Phenotype Correlations were not present at the first visit and appeared during follow-up. The twelve-lead ECG showed normal sinus rhythm, normal atrioventricular conduction, and normal QT interval in all mutation carriers. The signal-averaged ECG showed late potentials in five subjects (12%), whereas the 24-h ambulatory ECG revealed sporadic monomorphic ventricular complexes in four subjects (9%). 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%).

Am J Hum Genet 69:249-260 28. Rampazzo A, Nava A, Malacrida S et al (2002) Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 71:1200-1206 29. Bauce B, Basso C, Rampazzo A et al (2005) Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J 16:1666-1675 30. Gerull B, Heuser A, Wichter T et al (2004) Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.

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


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