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Arrhythmogenic Right Ventricular Dysplasia (ARVD) in Childhood: Case Report with a Review of the Literature

1997; King Faisal Specialist Hospital and Research Centre; Volume: 17; Issue: 3 Linguagem: Inglês

10.5144/0256-4947.1997.350

0975-4466

Abdullah S. Al Jarallah,

Cardiac electrophysiology and arrhythmias

Case ReportsArrhythmogenic Right Ventricular Dysplasia (ARVD) in Childhood: Case Report with a Review of the Literature Abdullah Salem Al JarallahMB ChB, CABP Abdullah Salem Al Jarallah Address reprint requests and correspondence to Dr. Al Jarallah: Department of Cardiology, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario K1H 8L1, Canada. From the Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia Search for more papers by this author Published Online:1 May 1997https://doi.org/10.5144/0256-4947.1997.350SectionsPDF ToolsAdd to favoritesDownload citationTrack citations ShareShare onFacebookTwitterLinked InRedditEmail AboutIntroductionOver the last few decades of advances in the field of cardiology, many newly identified diseases have been described. One of these newly recognized conditions was arrhythmogenic right ventricular dysplasia (ARVD), which was first described in 1978 by Frank et al.1 The clinical spectrum of this condition was described by Marcus et al. in 1982.2 Estimates of the prevalence of ARVD vary sharply in the literature. Thiene et al. found a startling 20% incidence of ARVD in a study of sudden deaths in young adults originating from northeast Italy.3 In contrast, in two retrospective studies of sudden deaths in young American adults, the incidence of ARVD was found to be 0.5%-3.0%.4In this condition, areas of fatty and fibrous tissues replace the normal myocardium of the right ventricle. The involved myocardium evokes ventricular arrhythmias of right ventricular origin. The diagnosis of ARVD in the past was based on the presence of ventricular arrhythmia with left bundle branch block configuration and morphologic changes or motion abnormalities in the free wall of the right ventricle.2Recently, standardized diagnostic criteria have been proposed, based on the presence of major and minor criteria encompassing structural, histological, electrocardiographic, arrhythmia, and genetic factors.5 Although the long-term prognosis of ARVD is generally good, the prevalence is unknown because of its rarity, especially in the pediatric age group. A male child with ARVD is reported here, with a review of the literature.CASE REPORTA 12-year-old boy presented with an 18-month history of progressive shortness of breath and recurrent vomiting. Nine months prior to admission, he was seen in a private clinic with severe dyspnea and tachycardia (heart rate of 216 beats/min), where he was diagnosed with heart failure and treated with digoxin, furosemide and spironolactone. There was no history of rheumatic fever or endocarditis and no family history of heart disease.General examination revealed a puffy child, mildly dyspneic, and pink in color. Weight was in the 50th percentile, height in the 10th percentile, temperature was normal, respiratory rate was 22 per minute. Pulse was 110 per minute, regular, good volume, with no radio-femoral delay. Blood pressure was 110/75 mmHg in the right upper arm. Precordial examination revealed no chest deformity, with quiet precordium, no thrill. First and second heart sounds were muffled, third heart sound was audible (gallop rhythm) with a grade 3/6 pansystolic murmur at the left lower sternal border and the lung fields were clear with equal air entry. Abdomen was slightly distended with mild ascites and tender hepatomegaly (6 cm below the right costal margin). There was pitting edema involving both lower limbs.Chest x-ray showed globular enlargement of the heart (cardiothoracic ratio 70%) (Figure 1). The 12-leads electrocardiography showed sinus rhythm, low voltage amplitude in all leads, a rate of 110 per minute, an axis of (+45), RSR pattern in leads V1 to V4 and negative T-wave in leads V2 to V6 indicating right ventricular volume overload (Figure 2). The two-dimensional echocardiography demonstrated huge dilation of the right atrium, congestion of the inferior vena cava and the hepatic vein, and moderate dilation of the right ventricle. It also demonstrated a slow foreflow through the tricuspid valve with tethering of the septal leaflet and poor myocardial contractility, with paradoxical movement of the interventricular septum. The left ventricular function was mildly impaired.Figure 1. Chest x-ray, showing markedly enlarged cardiac silhouette, with decreased pulmonary blood flow.Download FigureFigure 2. 12-leads electrocardiogram at sinus rhythm, shows low voltage amplitude in all leads, an axis of (+45), RSR pattern in leads V1 to V4 and negative T wave in leads V2 to V6, and one ectopic ventricular beat.Download FigureCardiac catheterization of the right side showed a very sluggish flow of the contrast due to poor contraction, a dilated right atrium and right ventricle, some displacement of the posterior leaflet of the tricuspid valve as a result of widely dilated tricuspid valve annulus, and severe tricuspid regurgitation. Myocardial biopsy of the right ventricle showed some non-specific interstitial fibrosis.Four months later the patient was taken for surgical repair of the tricuspid valve. There was huge dilation of the tricuspid valve annulus and the right atrium. The right atrial appendage was occupied by a big thrombus.The immediate postoperative course was complicated by the development of atrial fibrillation, which was controlled by procainamide infusion. Two weeks later, the patient presented to the emergency room with ventricular tachycardia followed by a systole. He was successfully resuscitated, but afterwards ventricular tachycardia became a major problem.During the episodes of ventricular tachycardia, the heart rate ranged from 120 to 180 beats/min with wide QRS complexes and left bundle branch block (broad QRS with notch in the R wave in leads I, III, aVL, aVF and V5) (Figure 3). A 24-hour Holter monitor recorded 22,297 ventricular ectopic beats/24 hours, some episodes continuing for quite long periods. It was manipulated with various antiarrhythmic agents, including amiodarone. Overdrive endocardial cardiac pacing was tried but, unfortunately, was unsuccessful. Death occurred three months postoperatively.Figure 3. 12-leads electrocardiogram during an episode of ventricular tachycardia, with wide ARS complexes, and left bundle branch block (wide QRS complexes=110 mesc, which are prolonged, slurred and directed away from right chest leads).Download FigureDISCUSSIONWhen arrhythmogenic right ventricular dysplasia (ARVD) was described by Marcus et al. in 1982, the 24 cases described were adults (mean 39 years), with two cases under the age of 20: one a 17-year-old male and the other a 19-year-old male. ARVD has been considered to be a minor cause of unexpected sudden deaths below the age of 35.2 The typical patient is male and in the third decade of life, the youngest reported patient was one year old and the oldest 84 years. This is in contrast to Uhl's anomaly, where many cases occur in the very young and usually manifest as stillbirth or congestive heart failure in early childhood.6The 12-year-old boy described in this report is the youngest patient presenting with this condition in this area. Rheumatic fever is an important and common cause of tricuspid valve regurgitation in our area, and always needs to be ruled out. No clinical or laboratory evidence of rheumatic fever was found in our patient. Another possible diagnosis, Ebstein's anomaly, is a congenital cardiac anomaly causing tricuspid valve regurgitation with displacement of posterior and anterior tricuspid leaflet insertion into the right ventricle, with evidence of atrialization of the right ventricle, which is a diagnostic feature for this anomaly and readily seen by two-dimensional echocardiography.7 Isolated congenital tricuspid insufficiency is another rare possible diagnosis, with some valvular deformity and is usually included with Ebstein's anomaly.8 It was unlikely in our patient because his valve was of normal morphology.The development of ventricular tachycardia and rhythm disturbance raised the possibility of ARVD. It is a heart muscle disorder of unknown cause, characterized pathologically by fibrofatty replacement of the right ventricular myocardium.2 Segmental right ventricular distribution is usual but evolution to more diffuse right ventricular involvement and left ventricular abnormalities with heart failure have been described.9Clinical manifestations of the disease include structural and functional abnormalities of the right ventricle, specific electrocardiographic changes, and presentation with sudden death or arrhythmias of right ventricular origin. The disease is familial in about 30% of cases with an autosomal dominant inheritance.10 It remains unclear whether this genetic background predisposes to a degenerative disease with atrophy and fibrofatty replacement of the right ventricular myocardium, or whether the inflammatory cells seen in approximately 25% of cases indicate an infectious or possibly genetically determined immune pathogenesis.11 In our patient, the finding of hugely dilated right ventricle and right atrium by echocardiography and angiography, associated with a hypokinetic movement of the right ventricle supported by sluggish flow of contrast and severe tricuspid valve regurgitation as a major criteria, plus the finding of frequent ventricular extrasystoles of more than 1000/24 hours and left bundle branch block type ventricular tachycardia, gave us two minor criteria. These fulfill the diagnosis of ARVD, as defined by McKenna et al. (Table 1). Myocardial biopsy of our patient revealed some fibrosis without fatty replacement of myocardial tissue; however, myocardial biopsy on occasion might have given false-negative results due to the segmental nature of the disease involvement.5Table 1. Criteria for diagnosis of right ventricular dysplasia.*Table 1. Criteria for diagnosis of right ventricular dysplasia.*The treatment aims mainly at the management of cardiac arrhythmias. The use of propranolol, sotalol, procainamide, aprindine, disopyramide or amiodarone is usually efficacious, although a combination of these drugs is frequently required. Unfortunately, this modality of treatment was unsuccessful in our patient. Localized resection, endocardiac ventriculotomy or transmural ventriculotomy have been used at the site of reentry responsible for the initiation of ventricular tachycardia.9 The average follow-up for patients after ventriculotomy is 36 months. Of the 12 patients in that study, one died in congestive failure, two required antiarrhythmic medication, and the rest are arrhythmia-free.12 Cryoablation has also been applied in some patients with some success. The last two modes of therapy were not tried in our patient because he was unstable and sick during hospitalization.The prognosis and natural history of ARVD still remains obscure. Fifteen patients with ARVD were followed from 1.5 to 28 years (mean 8.8 years). Surgical treatment was applied for intractable VT in four of the patients. The mortality in this group was 20%.13 Recently Bender et al. concluded that the long-term prognosis of ARVD would appear to be more favorable than reported earlier. Wide use of ß-blockers may have had a beneficial effect on prognosis, suggesting that medical treatment is of major importance in reducing the risk of sudden death.14ARTICLE REFERENCES:1. Frank R, Fontaine G, Vedel J, Mialet G, Sol C, Guiraudon G, et al.. 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Fontaine G, Guiraudon G, Frank R, Fillette F, Cabrol C, Grosgogeat YI, et al.. "Surgical management of ventricular tachycardia unrelated to myocardial ischemia or infarction" . Am J Cardiol. 1982; 49:397–410. Google Scholar13. Blomstrom-Lundqvist C, Sabel KG, Olsson SB. "A long-term follow-up of 15 patients with arrhythmogenic right ventricular dysplasia" . Br Heart J. 1987; 58:477–88. Google Scholar14. Bender V, Vouthier M, Mabo P, DePlace C, Laurent M, Almange C, et al.. "Characteristics and outcome in arrhythmogenic right ventricular dysplasia" . Am J Cardiol. 1995; 75:411–4. Google Scholar Previous article Next article FiguresReferencesRelatedDetails Volume 17, Issue 3May 1997 Metrics History Received11 June 1996Accepted5 April 1997Published online1 May 1997 InformationCopyright © 1997, Annals of Saudi MedicinePDF download