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 points (biological, pathological, genetics, scientific and therapeutical) of arrhythmogenic correct ventricular cardiomyopathy/dysplasia, a up to date cardiomyopathy which represents a truly excessive danger of surprising demise within the younger and in athletes. The monograph provides the result of 5-year learn software on ARVC/D supported via provides of either the eu fee and the NIH, which enabled the invention of seven disease-causing genes, therefore starting new avenues for the early identity of affected sufferers and for surprising demise prevention. A panel of most sensible scientists, either eu and americans, contributed to this quantity, as a way to be a vital reference for execs and citizens in cardiology, radiology, human genetics, and recreation medication.

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CHAPTER 3 • Genotype-Phenotype Correlations ARVC/D Linked to Mutations of TGFbeta 3 Gene Mutations of TGFbeta 3 has been found in a small percentage of ARVC/D patients (4%). Beffagna et al. [6] found a proband in one family with mutations of this gene. Clinical analysis of 12 TGFbeta 3 mutation carriers lead to a diagnosis of ARVC/D in nine subjects (75%). The 12-lead ECG, SAECG, and 2D-echo findings were similar to those reported in DSP and DSG2 carriers. TGFbeta 3 is a member of the transforming growth factor family, a large group of regulatory cytokines that has a pivotal role in tissue development and homeostasis [24].

J Am Coll Cardiol 38:1477-1484 20. 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 26:1666-1675 21. 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.

An additional nine presented some cardiac signs of the disease. Right ventricular structural abnormalities were present in 20 (62%), mutations carriers and abnormal ECG/SAECG features in 21 (66%). Antoniades et al. studied 22 PKP2 carriers and 26 homozygous JUP carriers and found a similar cardiac phenotype [23]. Moreover, T-wave inversion in leads V1-V3,right ventricular wall motion abnormalities and frequent ventricular complexes were the most sensitive and specific markers for identification of mutation carriers.

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