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 with ventricular tachycardia, supraventricular arrhythmias, right-heart failure or asymptomatic cardiomegaly. 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 was 39 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 echocardiograms, all showed increased right ventricular diastolic dimensions. All patients had right ventricular angiography; 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.

Right ventricular dysplasia: a report of 24 adult cases.

Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a frequent cause of sudden death in young individuals and athletes. Although familial occurrence has been documented and a gene defect was recently localized on chromosome 14q23-q24 the etiopathogenesis of the disease is still obscure. Methods and results A pathological study was conducted in 30 hearts with ARVC (age range, 15 to 65 years; mean, 28 years). In the 27 autopsy cases, the mode of death was sudden in 24 and congestive heart failure in 3. ECG, available in 19 cases, showed inverted T waves in the right precordial leads in 15 cases (79%) and ventricular arrhythmias in 15 (79%). Right ventricular aneurysms were present in 15 hearts (50%) and located in the inferior wall in 12. Left ventricle and ventricular septum were involved in 14 (47%) and 6 (20%) cases, respectively. Scattered foci of lymphocytes with myocardial death were observed in 20 cases (67%). Electron microscopy studies, although confirming the myocardial death and lymphocyte infiltrates, did not show any specific ultrastructural substrate. Two pathological patterns, fatty (40%) and fibrofatty (60%), were identified. The fibrofatty pattern was associated with a thinner right ventricular wall (P Conclusions In the fibrofatty variety of ARVC, the myocardial atrophy appears to be the consequence of acquired injury (myocyte death) and repair (fibrofatty replacement), mediated by patchy myocarditis. Whether the inflammation is a primary event or a reaction to spontaneous cell death remains unclear.

Arrhythmogenic Right Ventricular Cardiomyopathy. Dysplasia, Dystrophy, or Myocarditis?

Arrhythmogenic right ventricular dysplasia (ARVD)isa recently described entity characterized byright ventricular myopathic changes andright ventricular tachycardia. Thepresenceor extentofleft ventricular dysfunction inARVD isnotknown. We assessed right ventricular andleft ventricular function andsize insixpatients withARVDbyechocardiography andradionuclide angio- cardiography doneinpatients atrestandduring exercise. Allpatients hadrecurrent ventricular tachycardia ofleft bundle branch blockmorphology, andright ventricular origin oftheventricular tachycardia was confirmed byendocardial mapping infourpatients. Theresults werecompared with those of10normal subjects andfive patients withWolff-Parkinson-White syndrome taking amiodar- one.Thelatter group was a control group,since we didnotwithhold amiodarone therapy infour patients withARVD.Mean(+ SD)right ventricular ejection fraction (EF)inpatients withARVD was 25+ 11%atrestand26 12%during exercise. Innormal subjects right ventricular EFwas 51+ 4% atrestand59 6% during exercise (p .05). Innormal subjects, left ventricular EFwas 61+ 4%atrest and72 5%during exercise (p .05) tothose of normal subjects. We conclude that right ventricular dysfunction predominates inpatients withARVD butlatent left ventricular dysfunction ispresent more often thaniscommonly recognized. These findings may haveimportant diagnostic andtherapeutic implications. Circulation 68,No.2,251-257, 1983.

Arrhythmogenic right ventricular dysplasia: a generalized cardiomyopathy?

Arrhythmogenic right-ventricular dysplasia (ARVD), a cardiomyopathy inherited as an autosomal-dominant disease, is characterized by fibro-fatty infiltration of the right-ventricular myocardium. Four loci for ARVD have been mapped in the Italian population, and recently the first locus was mapped in inhabitants of North America. None of the genes have been identified. We have now identified another North American family with early onset of ARVD and high penetrance. All of the children with the disease haplotype had pathological or clinical evidence of the disease at age <10 years. The family spans five generations, having 10 living and 2 dead affected individuals, with ARVD segregating as an autosomal-dominant disorder. Genetic linkage analysis excluded known loci, and a novel locus was identified on chromosome 10p12-p14. A peak two-point LOD score of 3.92 was obtained with marker D10S1664, at a recombination fraction of 0. Additional genotyping and haplotype analysis identified a shared region of 10.6 cM between marker D10S547 and D10S1653. Thus, a novel gene responsible for ARVD resides on the short arm of chromosome 10. This disease is intriguing, since it initiates exclusively in the right ventricle and exhibits pathological features of apoptosis. Chromosomal localization of the ARVD gene is the first step in identification of the genetic defect and the unraveling of the molecular basis responsible for the pathogenesis of the disease.

The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14.

OBJECTIVE--Since 1905 there have been many reports of cases in which the right ventricle was deficient in myocardium. Several terms have been used to describe this condition. Of these, "Uhl's anomaly" and "arrhythmogenic right ventricular dysplasia" are most often used. Our study investigates the relation between these entities. METHOD--Five cases with a primary deficiency of the right ventricular musculature were examined. The findings were compared with those published reports to evaluate the similarities and differences between Uhl's anomaly and arrhythmogenic dysplasia. RESULTS--The five cases showed two patterns of myocardial deficiency in the right ventricle. On the one hand, the parietal wall was paper thin with complete absence of musculature and apposition of the endocardial and epicardial layers. On the other hand, patchy, localised fibrofatty tissue replacement was found within the parietal musculature. Evidence from our cases, combined with analysis of other publications, showed different modes and timing of clinical presentation of the patients with these two anatomical conditions, congestive heart failure or arrhythmia. CONCLUSIONS--The conditions variously described as Uhl's anomaly and arrhythmogenic dysplasia are separate and distinct morphological entities.

https://heart.bmj.com/content/heartjnl/69/2/142.full.pdf

Dysplastic conditions of the right ventricular myocardium: Uhl's anomaly vs arrhythmogenic right ventricular dysplasia.

Uhl's anomaly of the heart is a rare condition. Another well-documented case is presented with a review of the published reports outlining the main clinical features and the bad overall prognosis. Right atriotomy should be avoided if closure of the atrial septal defect is attempted.

https://heart.bmj.com/content/heartjnl/41/6/676.full.pdf

R J Vecht

Papers

Uhl's anomaly.