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Publicaciones > Revista > 12V41N1

Arrhythmogenic Right Ventricular Dysplasia or Uhl’s Anomaly?

 

Luis Miguel Morales Pérez, Ana Margarita Jerez Castro,
Eliezer San Román García.

 

Instituto Nacional de Cardiología y Cirugía Cardiovascular.
La Habana, Cuba.
Departamento de Terapia Intensiva Cardioquirúrgica.
Instituto Nacional de Cardiología y Cirugía Cardiovascular.
Calle 17 Nº 702. El Vedado. 10400 La Habana. CUBA.
Correo electrónico

The authors of this paper declare it not affected by conflicts of interes


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Arrhythmogenic right ventricular dysplasia (ARVD) is a cardiomyopathy characterized by ventricular arrhythmias and progressive structural anomalies of the right ventricle (RV). The myocardial degeneration could extend to the left ventricle, mainly in the advanced phases of the disease. ARVD may occur in sporadic and familial forms. The disease is characterized by a progressive partial or massive replacement of the myocardium by fatty or fibrofatty tissue. This infiltration constitutes a substrate for electrical instability and the generation of different arrhythmias, from isolated premature ventricular contractions (PVC) up to sustained ventricular tachycardias (VT) or ventricular fibrillation [1].

The diagnostic criteria of ARVD is divided into major and minor [2]. Its diagnosis in vivo arises with the demonstration of alterations in the RV function and structure, typically in the infundibular, apical and subtricuspid regions (specificity >90%). Both functional and structural alterations are detectable, and in the presence of typical echocardiographic characteristics, neither NMR (valuable for tissue characterization) nor contrast angiography may be necessary. Echocardiography is a noninvasive technique, widely used, of first choice to evaluate the patients with diagnostic suspicion of ARVD, and for the familial screening [3].

Uhl’s disease is a very infrequent congenital disorder, characterized by absence of right ventricular myocardium, so that its walls are as thin as paper [4]. This condition should be differentiated from ARVD, in which the residual myocardium intercalates with fatty or fibrofatty tissue. James et al (Circulation 1996) suggest that Uhl’s anomaly and ARVD share a similar pathogenesis. The definitive differential diagnosis could only be confirmed by autopsy [5].

An atypical case is presented here, of a male, 56-year-old patient with familial pathological history of premature sudden death (<35 years), personal history of palpitations, exhaustion, atypical chest pain, and repeated episodes of syncope triggered by stress. The first manifestations started when he was 15 years old. The reason for his hospitalization was a syncope episode preceded by palpitations. In the admittance ECG, a sustained ventricular tachycardia was observed, with morphology of left bundle branch block of the His bundle and indeterminate QRS axis. He was admitted into the unit of cardiac surgery intensive care, a service where transthoracic echocardiogram was conducted, which displayed dilated RV with ejection fraction (RVEF) <30% (Figure 1), assessed by the Simpson’s method, and tissue Doppler imaging (TDI) of the lateral tricuspid annulus<4 cm/second (Figure 2). Besides, dyskinetic areas and regional aneurysms were verified in the RV, with increases in its diameters in the telediastolic period. The ventricular morphology reminds us of onionskinpaper or the image of parchment right ventricle (Figure 3).

Figure 1. Transthoracic echocardiogram. Apical 4-chamber view. Determination of the right ventricular function. RVEF <30% (Simpson’s method).

 

Figure 2. Transthoracic echocardiogram. Apical 4-chamber view. Velocity of systolic wave of the lateral tricuspid annulus (by TDI) that indicates marked decrease of right ventricular function.

 

Figure 3. Transthoracic echocardiogram. Apical view. Absence of RV myocardium. Walls with “parchment” aspect that show dyskinetic areas and regional aneurysms in the apex are observed. RV: right ventricle; RA: right atrium. Free wall with “parchment” aspect that shows absence of right ventricular myocardium. Regional aneurysms in the RV apex. Dyskinetic area.

Gaffney FA et al, propose the hypothesis that Uhl’s anomaly and ARVD would be manifestations of a single, presumably congenital, pathological process: the parchment right ventricle syndrome [6].

 

REFERENCES

  1. Thiene G, Basso C. Arrhythmogenic right ventricular cardiomyopathy: an update. Cardiovasc Pathol. 2001; 10: 109-117.
  2. Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Eur Heart J 2010; 31: 806-814.
  3. Thiene G, Corrado D, Basso C. Arrhythmogenic right ventricular cardiomiopathy/dysplasia. Orphanet J Rare Dis. 2007; 2: 45.
  4. Hébert JL, Duthoit G, Hidden-Lucet F, et al. Fortuitous Discovery of Partial Uhl Anomaly in a Male Adult. Circulation 2010, 121: e426-e429.
  5. Turrini P, Basso C, Daliento L, et al. Is arrhythmogenic right ventricular cardiomyopathy a pediatric problem too? Images Paediatr Cardiol 2000; 6: 18-37.
  6. Gaffney FA, Nicod P, Lin JC, Rude RE. Noninvasive recognition of the parchment right ventricle (Uhl's anomaly arrhythmogenic right ventricular dysplasia) syndrome. Clin Cardiol 1983; 6 (5): 235-242.

 

Publication: February 2012

 

 
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