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Volume 7, Issue 1, Pages (January 2010)

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1 Volume 7, Issue 1, Pages 22-29 (January 2010)
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia  Barbara Bauce, MD, PhD, Andrea Nava, MD, Giorgia Beffagna, BSc, PhD, Cristina Basso, MD, PhD, Alessandra Lorenzon, BSc, PhD, Gessica Smaniotto, BSc, PhD, Marzia De Bortoli, BSc, PhD, Ilaria Rigato, MD, PhD, Elisa Mazzotti, MD, PhD, Alexandros Steriotis, MD, Martina Perazzolo Marra, MD, PhD, Jeffry A. Towbin, MD, PhD, Gaetano Thiene, MD, Gian Antonio Danieli, BSc, PhD, Alessandra Rampazzo, BSc, PhD  Heart Rhythm  Volume 7, Issue 1, Pages (January 2010) DOI: /j.hrthm Copyright © 2010 Heart Rhythm Society Terms and Conditions

2 Figure 1 A: Sequence electropherograms showing the detected mutations. Numbering of the nucleotides starts at the ATG codon. B: Evolutionary conservation of the missense mutations identified in desmoplakin, desmoglein-2, and plakophilin-2 genes, among different species. The mutated amino acids are in red. Heart Rhythm 2010 7, 22-29DOI: ( /j.hrthm ) Copyright © 2010 Heart Rhythm Society Terms and Conditions

3 Figure 2 Pedigrees of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) probands carrying multiple mutations. Arrows indicate index cases. + and – denote the presence or absence of a desmosomal gene mutation. Heart Rhythm 2010 7, 22-29DOI: ( /j.hrthm ) Copyright © 2010 Heart Rhythm Society Terms and Conditions

4 Figure 3 Clinical findings of index case (IV,5) of family #137. A: Twelve-lead electrocardiogram with presence of intraventricular conduction delay, negative T waves in precordial and inferior leads, and low QRS voltages. B: Two-dimensional echocardiogram showing a severe RV dilatation with moderate systolic depression. The LV is also dilated. C: Histological section of the RV free wall at high magnification; residual hypertrophied myocytes are entrapped within fibrous and fatty tissue (Heidenhain trichrome). D: Severe myocyte abnormalities with bizarre dysmorphic and dysmetric nuclei and perinuclear halo (hematoxylin-eosin). LA = left atrium; LV = left ventricle; RA = right atrium; RV = right ventricle. Heart Rhythm 2010 7, 22-29DOI: ( /j.hrthm ) Copyright © 2010 Heart Rhythm Society Terms and Conditions


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