Right Ventricular Dysplasia: A Report of 24 Adult Cases

Abstract

Right ventricular dysplasia is characterized by an abnormality in the development of part of the right ventricular musculature. Patients with right ventricular dysplasia may present 4 t h ventricular tachycardia, supraventricular arrhythmias, rightheart failure or asymptomatic cardiomegdy. Twenty-two adult patients with right ventricular dysplasia who had recurrent ventricular tachycardia were seen during a 7-year period. The male/female ratio was 2.7: 1. The mean age at the time of hospitalization n u 3 9 years. All but one of the patients had ventricular tachycardia of a left bundle branch block configuration. With few exceptions, the T waves were inverted over the right precordial leads. The heart was usually enlarged and the pulmonary vasculature was usually normal. In six patients who had two-dimensional echocardlograms, all showed increased right ventricular diastolic dimensions. All patients had right ventricular angiognphy; the diagnosis of right ventricular dysplasia was substantiated during surgery in 12 patients and at autopsy in another. Two other patients who did not have arrhythmias had right ventricular dysplasia diagnosed by right-and left-heart angiography.Our unique experience, when combined with a literature review of 34 adult cases, permits a composite clinical profile of this condition in the adult.

Recurrent and founder mutations in the Netherlands

“…ARVC/D is familial in up to 50% of cases. 1,[8][9][10][11][12] Since the identification of mutations in the genes encoding the desmosomal proteins desmoplakin (DSP) 13 and plakophilin-2 (PKP2), [14][15][16][17] followed by mutations in desmocollin-2 (DSC2), 18 desmoglein-2 (DSG2) 19 and plakoglobin (JUP), 20 it has been recognised that ARVC/D is mainly a disorder of the cardiac desmosome (figure 2), a cell adhesion complex residing in the intercalated disk of cardiomyocytes. Comprehensive screening of these genes encoding the proteins of this complex leads to the identification of a pathogenic mutation in approximately 40 to 60% of ARVC/D patients.…”

“…1,2 The clinical presentation of ARVC/D is highly variable, ranging from asymptomatic to sudden cardiac death (SCD) and/or heart failure, even at a relatively young age. 3,4 The clinical diagnosis of ARVC/D is based upon criteria originally proposed by an international Task Force in 1994; 5 these have recently been modified to improve diagnostic sensitivity and maintain diagnostic specificity.…”

Arrhythmogenic Cardiomyopathy

“…The gross pathognomonic features of AC consist of RV aneurysms, whether single or multiple, located in the so-called "triangle of dysplasia" (i.e. inflow, apex and outflow tract) [2,14]. Nevertheless, grossly normal hearts have been reported in whom only a careful histopathology investigation can reveal AC features.…”

Simultaneous myocardial and fat suppression in magnetic resonance myocardial delayed enhancement imaging

“…This leads to increased motion-related artifacts from ghosting of fat from the chest wall if the patient is unable to maintain a breathhold or possibly more significant aliasing artifacts from fat within the shoulder when fields-of-view (FOVs) are small. Furthermore, bright signal from pericardial fat may obscure proper identification of enhancing myocardial scar, which may be particularly problematic in regions of thinned myocardium such as in chronic infarction or in the right ventricle (6,7). We propose a technique that allows effective fat suppression with minimal impact on the normal IR-GRE acquisition: that is, a method that does not alter the normal delayed enhancement protocols or change the TI times used in a nonfat suppressed delayed enhancement study.…”