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Usefulness of contrast echocardiography in arrhythmogenic right ventricular dysplasia
Usefulness of Contrast Echocardiography in Arrhythmogenic Right Ventricular Dysplasia Teresa Lo´pez-Ferna´ndez, MD, Miguel A ´ ngel Garcı´a-Ferna´ndez, MD, PhD, Esther Pe´rez David, MD, and Mar Moreno Yangu¨ela, MD, Madrid, Spain
Arrhythmogenic right ventricular (RV) dysplasia or cardiomyopathy is a familiar heart muscle disease, characterized by progressive fibrofatty replacement of RV myocardium. Echocardiography can be used to evaluate the wide spectrum of abnormalities that range from a normal RV to severe RV dilation, with localized aneurysms. In the context of a positive family history, even minimal RV abnormalities represent a disease expression. This suggests the need
for a careful echocardiographic investigation focusing in subtle structural changes. However, echocardiography may be limited by poor endocardial visualization in several patients. Contrast echocardiography may improve endocardial border delineation in these cases and, thus, the ability to assess arrhythmogenic RV dysplasia or cardiomyopathy at the initial stages of the disease. (J Am Soc Echocardiogr 2004;17:391-3.)
Arrhythmogenic right ventricular (RV) dysplasia or
CASE REPORT
cardiomyopathy (ARVD/C) is a familiar heart muscle disease, characterized by progressive fibrofatty replacement of RV myocardium. The most common pattern of inheritance is autosomal dominant, although an autosomal recessive pattern has also been reported.1 A definitive diagnosis requires the histologic finding of fibrofatty replacement, most frequently localized at the RV inflow area, the apex, and the infundibulum. Endomyocardial biopsy has the potential for demonstrating typical morphologic alterations, however, sensitivity is low because samples are usually taken from the septum, a region uncommonly involved. The working groups on myocardial and pericardial disease and arrhythmias of the European Society of Cardiology and the scientific council on cardiomyopathies of the World Heart Federation have proposed diagnostic criteria1,2 that includes histologic, echocardiographic, electrocardiographic, arrhythmic, and genetic factors. We report a case of unsuspected ARVD/C, in which contrast echocardiography was used to demonstrate the presence of apical RV aneurysms.
From the Laboratory of Echocardiography, Department of Cardiology, Hospital General Universitario “Gregorio Maran ˜o´n”. Reprint requests: Miguel A ´ ngel Garci´a-Ferna´ndez, MD, PhD, Laboratory of Echocardiography, Department of Cardiology, Hospital General Universitario “Gregorio Maran ˜o´n,” Doctor Esquerdo, 46, Madrid 28007, Spain (E-mail: [email protected]). Copyright 2004 by the American Society of Echocardiography. 0894-7317/$30.00 doi:10.1067/j.echo.2003.11.013
A 52-year-old man with presyncope and a family history of premature sudden cardiac death (⬍35 years) was referred to our echocardiography laboratory to rule out structural heart disease. The electrocardigram presented in sinus rhythm, a QRS of 0.10 seconds, and no significant repolarization abnormalities. The initial echocardiogram showed a normal left ventricular and valvular function, with a mild global RV dilatation. Because of inadequate visualization of the RV endocardial borders (Figure 1,A), we administered a bolus of Sono Vue (Bracco International, Amsterdam), an intravenous echocardiographic contrast agent (Figure 1, B). After contrast infusion, the color Doppler signal potentiation allowed us to recognize, at the apex of the RV, 3 localized aneurysms that strongly suggested the diagnosis of ARVD/C (Figure 1, C). The diagnosis was confirmed by a RV angiography (Figure 2).
DISCUSSION Echocardiography can be used to evaluate structural RV changes in patients with ARVD/C. The most suggestive finding includes global or segmental dilation and reduction of RV ejection fraction, with localized aneurysms during diastole in the inferobasal region.3 However, at initial stages, only minimal structural changes are present and diagnosis remains difficult.4 In a study published by Nava et al,5 among 151 members of 37 families with ARVD/C, electrocardiograms remained normal in nearly 50% at initial evaluation. All affected patients had echocardiographic abnormalities, but the majority (64%) had the mild form of the disease (normal or slightly increased RV enddiastolic volume with localized hypokinetic or akinetic areas). In these patients, RV motion abnormalities most
391
392 Lo´ pez-Ferna´ ndez et al
Journal of the American Society of Echocardiography April 2004
Figure 2 Right ventricular angiography showing 3 localized apical aneurysms (arrows) at same location of echocardiography.
frequently involved the posterior wall (52%), whereas the apex was affected in only 20%. In the context of a positive familial history the presence of minimal RV abnormalities can represent disease expression,2 thus, a careful echocardiographic investigation, focusing in subtle structural changes, is needed before ruling out ARVD/C. An adequate endocardial visualization is essential for accurate assessment of RV function. However, in roughly 20% of cases, a poor acoustic window produces insufficient endocardial border delineation. In these cases, RV angiography is still considered by many experts to be the method of choice, whereas others advocate the usefulness of magnetic resonance imaging. Recent developments have been made in echocardiography to improve the diagnostic evaluation of cardiac structures. Among these new innovations, the use of contrast echocardiography has gained great interest. With the use of new contrast agents, contrast echocardiography has the ability to achieve, noninvasively, RV opacification. It can also improve the assessment of RV size and shape, and wall-motion abnormalities.6 This translates into a more accurate and reproducible diagnosis, and an economic benefit, because the cost of the contrast agent is counterbalanced by savings incurred by reducing repetitive or invasive testing.7
Figure 1 A, Despite use of second harmonic imaging, optimal delineation of right ventricular (RV) endocardial border is not achieved. Contrast echocardiography reveals subtle opacification of (B) and color Doppler confirms presence of (C) 3 apical aneurysms in RV (arrows).
Journal of the American Society of Echocardiography Volume 17 Number 4
Conclusion Although either noninvasive or invasive tests can readily confirm the presence of the overt form of the disease, in patients with minimal anatomic changes, clinical recognition of ARVD/C is elusive. By critically analyzing the case with the diagnostic criteria proposed by the European Society of Cardiology, we found our patient fulfilled 1 major criterion (localized RV aneurysms) and 2 minor criteria (mild global RV dilation and familial history of premature sudden cardiac death). Because ARVD/C has an autosomal dominant inheritance, the possibility of disease in first-degree relatives is 50%, and within an affected family the likelihood that minor echocardiographic abnormalities represent disease expression is higher. Color Doppler contrast enhancement of the RV improves, in technically difficult studies, the ability to assess ARVD/C in the initial stages of the disease. REFERENCES 1. Gemayel C, Pellicia A, Thompson PD. Arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2001;38:177381.
Lo´ pez-Ferna´ ndez et al 393
2. Corrado D, Fontaine G, Marcus FI, McKenna WJ, Nava A, Thiene G, et al. Arrhythmogenic right ventricular dysplasia/ cardiomyopathy: need for an international registry; study group on arrhythmogenic right ventricular dysplasia/cardiomyopathy of the working groups on myocardial and pericardial disease and arrhythmias of the European society of cardiology and of the scientific council on cardiomyopathies of the world heart federation. Circulation 2000;101:e101-6. 3. Alizad A, Seward JB. Echocardiographic features of genetic diseases, part 1: cardiomyopathy. J Am Soc Echocardiogr 2000; 13:73-86. 4. Hamid SM, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR, et al. Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 2002;40:1445-50. 5. Nava A, Bauce B, Basso C, Muriago M, Rampazzo A, Villanova C, et al. Clinical profile and long term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2000;36:2226-33. 6. Spencer KT, Bednarz J, Mor-Avi V, Weinert L, Tan J, Godoy I, et al. The role of echocardiographic harmonic imaging and contrast enhancement for the improvement of endocardial border delineation. J Am Soc Echocardiogr 2000;13: 131-5. 7. Grayburn PA, Mulvagh S, Crouse L. Left ventricular opacification at rest and during stress. Am J Cardiol 2002;90:21-7J.
Arrhythmogenic right ventricular (RV) dysplasia or cardiomyopathy is a familiar heart muscle disease, characterized by progressive fibrofatty replacement of RV myocardium. Echocardiography can be used to evaluate the wide spectrum of abnormalities that range from a normal RV to severe RV dilation, with localized aneurysms. In the context of a positive family history, even minimal RV abnormalities represent a disease expression. This suggests the need
for a careful echocardiographic investigation focusing in subtle structural changes. However, echocardiography may be limited by poor endocardial visualization in several patients. Contrast echocardiography may improve endocardial border delineation in these cases and, thus, the ability to assess arrhythmogenic RV dysplasia or cardiomyopathy at the initial stages of the disease. (J Am Soc Echocardiogr 2004;17:391-3.)
Arrhythmogenic right ventricular (RV) dysplasia or
CASE REPORT
cardiomyopathy (ARVD/C) is a familiar heart muscle disease, characterized by progressive fibrofatty replacement of RV myocardium. The most common pattern of inheritance is autosomal dominant, although an autosomal recessive pattern has also been reported.1 A definitive diagnosis requires the histologic finding of fibrofatty replacement, most frequently localized at the RV inflow area, the apex, and the infundibulum. Endomyocardial biopsy has the potential for demonstrating typical morphologic alterations, however, sensitivity is low because samples are usually taken from the septum, a region uncommonly involved. The working groups on myocardial and pericardial disease and arrhythmias of the European Society of Cardiology and the scientific council on cardiomyopathies of the World Heart Federation have proposed diagnostic criteria1,2 that includes histologic, echocardiographic, electrocardiographic, arrhythmic, and genetic factors. We report a case of unsuspected ARVD/C, in which contrast echocardiography was used to demonstrate the presence of apical RV aneurysms.
From the Laboratory of Echocardiography, Department of Cardiology, Hospital General Universitario “Gregorio Maran ˜o´n”. Reprint requests: Miguel A ´ ngel Garci´a-Ferna´ndez, MD, PhD, Laboratory of Echocardiography, Department of Cardiology, Hospital General Universitario “Gregorio Maran ˜o´n,” Doctor Esquerdo, 46, Madrid 28007, Spain (E-mail: [email protected]). Copyright 2004 by the American Society of Echocardiography. 0894-7317/$30.00 doi:10.1067/j.echo.2003.11.013
A 52-year-old man with presyncope and a family history of premature sudden cardiac death (⬍35 years) was referred to our echocardiography laboratory to rule out structural heart disease. The electrocardigram presented in sinus rhythm, a QRS of 0.10 seconds, and no significant repolarization abnormalities. The initial echocardiogram showed a normal left ventricular and valvular function, with a mild global RV dilatation. Because of inadequate visualization of the RV endocardial borders (Figure 1,A), we administered a bolus of Sono Vue (Bracco International, Amsterdam), an intravenous echocardiographic contrast agent (Figure 1, B). After contrast infusion, the color Doppler signal potentiation allowed us to recognize, at the apex of the RV, 3 localized aneurysms that strongly suggested the diagnosis of ARVD/C (Figure 1, C). The diagnosis was confirmed by a RV angiography (Figure 2).
DISCUSSION Echocardiography can be used to evaluate structural RV changes in patients with ARVD/C. The most suggestive finding includes global or segmental dilation and reduction of RV ejection fraction, with localized aneurysms during diastole in the inferobasal region.3 However, at initial stages, only minimal structural changes are present and diagnosis remains difficult.4 In a study published by Nava et al,5 among 151 members of 37 families with ARVD/C, electrocardiograms remained normal in nearly 50% at initial evaluation. All affected patients had echocardiographic abnormalities, but the majority (64%) had the mild form of the disease (normal or slightly increased RV enddiastolic volume with localized hypokinetic or akinetic areas). In these patients, RV motion abnormalities most
391
392 Lo´ pez-Ferna´ ndez et al
Journal of the American Society of Echocardiography April 2004
Figure 2 Right ventricular angiography showing 3 localized apical aneurysms (arrows) at same location of echocardiography.
frequently involved the posterior wall (52%), whereas the apex was affected in only 20%. In the context of a positive familial history the presence of minimal RV abnormalities can represent disease expression,2 thus, a careful echocardiographic investigation, focusing in subtle structural changes, is needed before ruling out ARVD/C. An adequate endocardial visualization is essential for accurate assessment of RV function. However, in roughly 20% of cases, a poor acoustic window produces insufficient endocardial border delineation. In these cases, RV angiography is still considered by many experts to be the method of choice, whereas others advocate the usefulness of magnetic resonance imaging. Recent developments have been made in echocardiography to improve the diagnostic evaluation of cardiac structures. Among these new innovations, the use of contrast echocardiography has gained great interest. With the use of new contrast agents, contrast echocardiography has the ability to achieve, noninvasively, RV opacification. It can also improve the assessment of RV size and shape, and wall-motion abnormalities.6 This translates into a more accurate and reproducible diagnosis, and an economic benefit, because the cost of the contrast agent is counterbalanced by savings incurred by reducing repetitive or invasive testing.7
Figure 1 A, Despite use of second harmonic imaging, optimal delineation of right ventricular (RV) endocardial border is not achieved. Contrast echocardiography reveals subtle opacification of (B) and color Doppler confirms presence of (C) 3 apical aneurysms in RV (arrows).
Journal of the American Society of Echocardiography Volume 17 Number 4
Conclusion Although either noninvasive or invasive tests can readily confirm the presence of the overt form of the disease, in patients with minimal anatomic changes, clinical recognition of ARVD/C is elusive. By critically analyzing the case with the diagnostic criteria proposed by the European Society of Cardiology, we found our patient fulfilled 1 major criterion (localized RV aneurysms) and 2 minor criteria (mild global RV dilation and familial history of premature sudden cardiac death). Because ARVD/C has an autosomal dominant inheritance, the possibility of disease in first-degree relatives is 50%, and within an affected family the likelihood that minor echocardiographic abnormalities represent disease expression is higher. Color Doppler contrast enhancement of the RV improves, in technically difficult studies, the ability to assess ARVD/C in the initial stages of the disease. REFERENCES 1. Gemayel C, Pellicia A, Thompson PD. Arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2001;38:177381.
Lo´ pez-Ferna´ ndez et al 393
2. Corrado D, Fontaine G, Marcus FI, McKenna WJ, Nava A, Thiene G, et al. Arrhythmogenic right ventricular dysplasia/ cardiomyopathy: need for an international registry; study group on arrhythmogenic right ventricular dysplasia/cardiomyopathy of the working groups on myocardial and pericardial disease and arrhythmias of the European society of cardiology and of the scientific council on cardiomyopathies of the world heart federation. Circulation 2000;101:e101-6. 3. Alizad A, Seward JB. Echocardiographic features of genetic diseases, part 1: cardiomyopathy. J Am Soc Echocardiogr 2000; 13:73-86. 4. Hamid SM, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR, et al. Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 2002;40:1445-50. 5. Nava A, Bauce B, Basso C, Muriago M, Rampazzo A, Villanova C, et al. Clinical profile and long term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2000;36:2226-33. 6. Spencer KT, Bednarz J, Mor-Avi V, Weinert L, Tan J, Godoy I, et al. The role of echocardiographic harmonic imaging and contrast enhancement for the improvement of endocardial border delineation. J Am Soc Echocardiogr 2000;13: 131-5. 7. Grayburn PA, Mulvagh S, Crouse L. Left ventricular opacification at rest and during stress. Am J Cardiol 2002;90:21-7J.