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Characterizing abnormal regional longitudinal function in arrhythmogenic right ventricular dysplasia. The potential clinical role of ultrasonic myocardial deformation imaging.

L Herbots·M Kowalski·J Vanhaecke·L Hatle·G R Sutherland
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Arrhythmogenic Right Ventricular DysplasiaEchocardiographyHeart FailureHeart VentriclesHumansMagnetic Resonance ImagingMaleMiddle AgedStroke VolumeVentricular Dysfunction, LeftVentricular Dysfunction, RightCase ReportsJournal Article

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L Herbots, M Kowalski, J Vanhaecke, L Hatle, G R Sutherland. 2003. Characterizing abnormal regional longitudinal function in arrhythmogenic right ventricular dysplasia. The potential clinical role of ultrasonic myocardial deformation imaging.. https://doi.org/10.1053/euje.2002.0621

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Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited myocardial disorder associated with arrhythmias, heart failure, and sudden death. To date, mutations in four genes encoding major desmosomal proteins (plakoglobin, desmoplakin, plakophilin-2, and desmoglein-2) have been implicated in the pathogenesis of ARVD/C. We screened 77 probands with ARVD/C for mutations in desmocollin-2 (DSC2), a gene coding for a desmosomal cadherin. Two heterozygous mutations--a deletion and an insertion--were identified in four probands. Both mutations result in frameshifts and premature truncation of the desmocollin-2 protein. For the first time, we have identified mutations in desmocollin-2 in patients with ARVD/C, a finding that is consistent with the hypothesis that ARVD/C is a disease of the desmosome.

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PubMed2006

Advances in the diagnostic management of arrhythmogenic right ventricular dysplasia-cardiomyopathy.

Latest advances in the diagnostic management of arrhythmogenic right ventricular dysplasia-cardiomyopathy (ARVD/C) confirm that ARVD/C is not a rare disease (one affected in 1000-1250 inhabitants) and is of familial origin in 50-80% of cases. Diagnostic criteria defined in 1994 lead to low rates in the diagnosis of ARVD/C. Progress was made in the definition of diagnostic markers. New criteria of localised right precordial QRS prolongation could be identified. The detection of epsilon potentials could be enhanced by highly amplified and modified recording techniques. Vectorcardiography, signal averaging per lead and electroanatomic voltage mapping might become more important in the future. Cardiac MRI does not represent the single diagnostic test to make the diagnosis of ARVD/C. It remains a promising noninvasive imaging technique with advantages in the evaluation of the right ventricle. After the characterisation of mutations in the plakophilin-2 gene, molecular genetics is going to become an important diagnostic tool. Up to now, unsolved problems exist in the differentiation of ARVD/C and other conditions with ventricular arrhythmias evolving from the right ventricle such as Brugada syndrome and right ventricular outflow tract tachycardia. These problems can be overcome by distinct ECG analysis and the use of imaging techniques. With the help of corrected and modified diagnostic criteria it seems to be possible to identify symptomatic and asymptomatic affected by ARVD/C with predominantly major criteria and only in a minority of cases minor criteria.

Arrhythmogenic Right Ventricular Dysplasia↗
PubMed2006

Arrhythmogenic right ventricular dysplasia, a cell adhesion cardiomyopathy: insights into disease pathogenesis from preliminary genotype--phenotype assessment.

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) is a genetically determined heart muscle disorder presenting clinically with even lethal ventricular arrhythmias, particularly in the young and athletes. It is reported familial with recessive and most commonly dominant inheritance. Disease-causing genes are increasingly recognised among desmosomal proteins plakoglobin, desmoplakin, plakophilin2, and desmoglein2 displaying phenotypic heterogeneity. Mutations in the plakoglobin and desmoplakin genes have been identified to underlie recessive ARVC associated with woolly hair and palmoplantar keratoderma (Naxos disease), while mutations in plakophilin2, desmoglein2 as well as desmoplakin have been identified to underlie the dominant non-syndromic form. Preliminary genotype-phenotype assessment indicates that mutations affecting the outer dense plaque of desmosome (desmoglein2, plakoglobin, plakophilin2 and the N-terminal of desmoplakin) result in ARVC with the ordinary described phenotype. However, mutations at the inner dense plaque, particularly affecting the desmin-binding site of desmoplakin, may result in ARVC with predominantly left ventricular involvement and clinical overlapping with dilated cardiomyopathy. The interesting finding of abnormal distribution of plakoglobin, independently of the primarily affected protein, might suggest a common pathway for plakoglobin in ARVC pathogenesis.

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