Right Ventricular Dysplasia: The Mayo Clinic Experience

doi:10.4065/70.6.541

Mayo Clinic Proceedings

Volume 70, Issue 6, June 1995, Pages 541-548

https://doi.org/10.4065/70.6.541 Get rights and content

Objective

To determine the initial clinical manifestations and echocardiographic features of sright ventricular dysplasia as encountered in a major cardiovascular referral center in the United States.

Design

We conducted a retrospective study of cases of right ventricular dysplasia diagnosed at the Mayo Clinic between January 1978 and January 1993.

Material and Methods

In an institutional database search, we identified 20 patients with right ventricular dysplasia. Echocardiographic, electropbysiologic, Holter monitoring, cardiac catheterization, and endomyocardial biopsy results were analyzed. The mean duration of follow-up was 7 years.

Results

In the 12 female and 8 male patients (mean age, 30 years; range, 3 to 60), the initial manifestations of right ventricular dysplasia included ventricular arrhythmia (45%), congestive heart failure (25%), heart murmur (10%), asymptomatic (10%), complete heart block (5%), and sudden death (5%). First-order relatives were affected in 30% of the patients. Ventricular tachycardia with morphologic features of left bundle branch block was inducible in seven of nine patients. On Holter monitoring, all but 2 of 15 patients studied had frequent ventricular ectopic activity (Lown grade 2 or more). Characteristic fatty infiltration of the myocardium was present in 7 of 13 right ventricular biopsy specimens. Inordinate right ventricular enlargement was present in 60% of the patients at first echocardiographic assessment and in two other patients on follow - up assessment. Variable left ventricular involvement was noted in 50% of the cases. During the follow up period, four patients died: two died suddenly, one died of congestive heart failure, and one died of respiratory failure after a coronary artery bypass operation. Of the 16 living patients, 8 are doing well, 3 have an implanted cardiac defibrillator, 3 are receiving antiarrhythmic agents, and 2 have undergone cardiac transplantation because of progressive biventricular failure.

Conclusion

Patients with right ventricular dysplasia have varied initial manifestations and a high frequency of serious cardiovascular symptoms and complications.

Section snippets

PATIENTS AND METHODS

Study Subjects.—Study patients were identified by two criteria: (1) presence of abnormal amounts of adipose tissue in either endomyocardial biopsy specimens or explanted hearts from patients with ventricular arrhythmias or heart failure and (2) echocardiographic appearance of dilated cardiomyopathy confined to the right ventricle in the setting of a clinical picture consistent with right ventricular dysplasia. Patients with conditions associated with right ventricular dilatation, such as

RESULTS

General Features.—Of the 20 patients in the study group, 12 (60%) were female (Table 1). Ages at the time of diagnosis ranged from 3 to 60 years (mean age, 30). In 11 patients, arrhythmia was the initial manifestation; of these patients, 6 had sustained ventricular tachycardia, and 1 had an out-of hospital cardiac arrest. At the time of initial assessment, five patients had right-sided congestive heart failure. The diagnosis was made in two patients as a result of screening after right

DISCUSSION

The clinical features of right ventricular dysplasia have been described.12, 13 With these clinical features and supporting biopsy findings or anatomic confirmation in our 20 patients, we identified a clinical spectrum that varied from no symptoms (10% of patients) to congestive heart failure (25%), frequent ventricular ectopic activity (including sustained ventricular tachycardia of the left bundle branch pattern) (45%), conduction blocks (5%), heart murmur (10%), and sudden death (5%).

CONCLUSION

Patients with right ventricular dysplasia encountered at a large cardiovascular referral center in the United States constituted a heterogeneous group. All the characteristic features of this disorder were not invariably present in an individual patient, and a broad range of initial manifestations, clinical features, and outcomes existed. Dilatation of the right ventricle may develop only with time. Occasionally, left ventricular dysfunction may progress to the extent that the condition

ACKNOWLEDGMENT

We thank Virginia Michels, M.D., for advice on the genetic aspects of this study.

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Conduction Defects/Cardiomyopathies
2014, Advances in Pediatrics
Some previously neglected examples of arrhythmogenic right ventricular dysplasia/cardiomyopathy and frequency of its various reported manifestations
2010, American Journal of Cardiology
Citation Excerpt :
Three had documented ventricular tachycardia, and the 1 who died suddenly while walking presumably also had a “malignant” ventricular arrhythmia. Table 3 lists selected studies of patients reported with ARVD and the frequency in them of ventricular tachycardia, sudden death, chronic heart failure, left ventricular “dysplasia,” and cardiac transplantation.25–45 Ventricular tachycardia was the most frequent manifestation, but the accuracy of this percentage is unclear.
Four patients are described with either parchment-like thinning or partial but extensive myocyte depletion with severe fatty or fibrofatty infiltration of the free wall of the right ventricle in its outflow tract, including 2 previously reported patients who also had focal parchment-like thinning of the left ventricular free wall. Three had documented ventricular tachycardia, and the remaining patient had sudden death as his first and only manifestation of heart disease. Three patients had severe heart failure: in 1, it was fatal, and the other 2 underwent cardiac transplantation. Necropsy cases of parchment-heart syndrome before 1980 are reviewed, as well as large series of cases with arrhythmogenic right ventricular dysplasia (ARVD) reported subsequently. It is suggested that ARVD is not an ideal name for this condition, because malignant ventricular arrhythmias are not universal, the left ventricular free wall and/or ventricular septum are sometimes involved, and the name “ARVD” neglects the fact that severe heart failure may be prominent in these patients. The right ventricular wall can be thin or parchment-like, or it may not be thinned but consist mainly of adipose tissue with or without focal fibrous tissue and a few islands of myocytes. Nevertheless, because the name “ARVD” has been commonly used and recognized for >30 years, it is probably best retained for this condition.
Heart and blood vessels
2009, Modern Surgical Pathology
Heart and Blood Vessels
2009, Modern Surgical Pathology
Clinical manifestations of arrhythmogenic right ventricular cardiomyopathy in Korean patients
2007, International Journal of Cardiology
Citation Excerpt :
Those results suggest that ARVC may not be a disease confined only to young athletes or to strenuous physical activity. Another interesting finding in this study was that nearly one-third of our patients were asymptomatic or complained only of atypical chest pain similar to the previous reports [4,6,8–10,15]. Those asymptomatic patients were evaluated due to abnormalities in their ECGs taken during routine health checks or operations, and those with atypical chest pain were usually evaluated due to wall motion abnormalities on the 2-D echocardiography.
The clinical manifestations of the Korean patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) are not well known.
The clinical data of Korean patients who met the Task Force Criteria for ARVC were analyzed.
Thirty-seven patients (41.2 ± 14.8 years old, 19 males) were diagnosed with ARVC. The commonest presenting symptoms were palpitations (30%), syncope/presyncope (30%) and no symptoms (30%). Four patients had a family history of premature sudden death or ARVC. Most patients with no symptoms were evaluated due to ECG abnormalities or asymptomatic ventricular arrhythmias. Ventricular tachycardia, ventricular fibrillation and frequent premature ventricular contractions only were observed in 35%, 5% and 24%, respectively. Wall motion abnormalities of the right and left ventricles were detected in 92% and 41%, respectively. Fatty or fibrofatty infiltration was observed in 26 of the 32 (81%) patients who underwent an endomyocardial biopsy. Two patients had signs of heart failure. Two patients with syncope/presyncope were diagnosed with vasovagal syncope and another was due to side effects from a medication. Most of the patients with ventricular arrhythmias were treated with β-blockers and/or amiodarone. Implantable cardioverter-defibrillators (ICDs) were implanted in 3 patients. During a mean follow-up of 27.4 ± 26.5 months no syncope or sudden death developed except for in one patient with an ICD who suffered from recurrent shocks due to ventricular fibrillation.
ARVC may be an important cause of syncope, ventricular arrhythmias, and ECG and wall motion abnormalities of the ventricles in Koreans. The Korean patients with ARVC exhibited various clinical manifestations.
Advanced Quantitative Echocardiography in Arrhythmogenic Right Ventricular Cardiomyopathy
2007, Journal of the American Society of Echocardiography
Arrhythmogenic right ventricular (RV) cardiomyopathy (ARVC) is a regional disease of the RV myocardium with variable degrees of left ventricular involvement. Three-dimensional echocardiography and Doppler tissue imaging (DTI) are new echocardiographic modalities for the evaluation of global and regional function, but the diagnostic potential remains to be assessed.
Twenty patients with previously established ARVC were evaluated by 3-dimensional echocardiography and DTI, and compared with 32 age- and sex-matched control subjects.
Using 3-dimensional echocardiography, patients with ARVC had a decreased RV ejection fraction (0.47 ± 0.08 vs 0.53 ± 0.05, P < .01), and a decreased peak lateral systolic annular velocity by pulsed wave imaging of both the RV (11.9 ± 2.6 vs 15.1 ± 3.7 cm/s, P < .01) and the left ventricle (7.0 ± 2.6 vs 9.5 ± 1.9 cm/s, P < .01). DTI showed decreased regional systolic strain, but with wide variation in the measurements.
Three-dimensional echocardiography identifies decreased RV ejection fraction in ARVC. Assessment of regional contractility by DTI is limited by wide variation. Echocardiographic evaluation of the longitudinal motility appears to be a sensitive marker of preclinical left ventricular involvement.

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Right Ventricular Dysplasia: The Mayo Clinic Experience

Objective

Design

Material and Methods

Results

Conclusion

Section snippets

PATIENTS AND METHODS

RESULTS

DISCUSSION

CONCLUSION

ACKNOWLEDGMENT

Am Heart J

Int J Cardiol

J Am Coll Cardiol

Chest

Am J Cardiol

Am Heart J

Am J Cardiol

Am J Cardiol

A previously undescribed congenital malformation of the heart: almost total absence of the myocardium of the right ventricle

Bull Johns Hopkins Hosp

Right ventricular dysplasia: a report of 24 adult cases

Circulation

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

Br Heart J

Right ventricular cardiomyopathy and sudden death in young people

N Engl J Med

Endomyocardial biopsy approach to patients with ventricular tachycardia with special reference to arrhythmogenic right ventricular dysplasia

JpnCircJ