585
Myocardial adrenergic innervation and cardiac function
22. Sharir T, Berman DS, Waechter PB, Areeda J, Kavanagh PB, Gerlach J et al. Quantitative analysis of regional motion and thickening by gated myocardial perfusion SPECT: normal heterogeneity and criteria for abnormality. J Nucl Med 2001;42:1630–8. 23. Shah AM, Bourgoun M, Narula J, Jacobson AF, Solomon SD. Influence of ejection fraction on the prognostic value of sympathetic innervation imaging with iodine-123MIBG in heart failure. J Am Coll Cardiol Imaging 2012;5:1139 –46. 24. Kasama S, Toyama T, Hatori T, Sumino H, Kumakura H, Takayama Y et al. Evaluation of cardiac sympathetic nerve activity and left ventricular remodelling in patients with dilated cardiomyopathy on the treatment containing carvedilol. Eur Heart J 2007;28: 989 –95. 25. Sakata K, Mochizuki M, Yoshida H, Nawada R, Ohbayashi K, Ishikawa J et al. Cardiac sympathetic dysfunction contributes to left ventricular remodeling after acute myocardial infarction. Eur J Nucl Med 2000;27:1641 –9.
26. Akashi YJ, Nakazawa K, Sakakibara M, Miyake F, Musha H, Sasaka K. 123I-MIBG myocardial scintigraphy in patients with ‘Takotsubo’ cardiomyopathy. J Nucl Med 2004; 45:1121 –7. 27. Matsunari I, Schricke U, Bengel FM, Haase HU, Barthel P, Schmidt G et al. Extent of cardiac sympathetic imaging is determined by the area of ischemia in patients with acute coronary syndrome. Circulation 2000;101:2579 –85. 28. Zhao C, Shuke N, Yamamoto W, Okizaki A, Sato J, Ishikawa Y et al. Comparison of cardiac sympathetic nervous function with left ventricular function and perfusion in cardiomyopathies by 123I-MIBG SPECT and 99mTc-tetrofosmin electrocardiographically gated SPECT. J Nucl Med 2001;42:1017 –24. 29. Estorch M, Narula J, Flotats A, Marı´ C, Tembl A, Martı´n JC et al. Concordance between rest MIBG and exercise tetrofosmin defects: possible use of rest MIBG imaging as a marker of reversible ischaemia. Eur J Nucl Med 2001;28:614 – 9.
IMAGE FOCUS
doi:10.1093/ehjci/jet197 Online publish-ahead-of-print 5 November 2013
.............................................................................................................................................................................
Left ventricular apical aneurysm: a novel phenotype of Fabry’s disease Anushree Agarwal1, Ahmed Malik2, Anthony C. DeFranco1, and A. Jamil Tajik1* 1 Aurora Cardiovascular Services, Aurora Sinai/Aurora St. Luke’s Medical Centers, University of Wisconsin School of Medicine and Public Health, 2801 W. Kinnickinnic River Parkway, #840, Milwaukee, WI 53215, USA and 2Milwaukee Nephrologists S.C., 2901 W. Kinnickinnic River Parkway, #405, Milwaukee, WI 53215, USA
* Corresponding author. Tel: +1 414 649 3909; Fax: +1 414 649 3551, Email: [email protected]
Published on behalf of the European Society of Cardiology. All rights reserved. & The Author 2013. For permissions please email: [email protected]
Downloaded from by guest on November 17, 2015
A 63-year-old man with a history of chronic kidney disease and atrial flutter status post ablation and permanent pacemaker implant presented with worsening shortness of breath. Echocardiogram revealed asymmetric left ventricular wall thickness involving the posterior wall and midventricular septum (S) with maximal thickness of 28 mm, midventricular obstruction (gradient 19 mmHg), moderate mitral regurgitation, and Grade II diastolic dysfunction. An apical aneurysm was identified using contrast echocardiography (Panels A– C, arrows) and by computed tomography (Panel D, arrows). A diagnosis of hypertrophic cardiomyopathy (HCM) phenotype was made. However, the alpha-galactosidase level was low. Genetic testing confirmed mutation of alpha-galactosidase A (alpha-Gal A) gene while genetic testing for HCM was negative. Electron microscopy of renal tissue showed hypertrophic vacuolated cells with electron-dense concentric lamellar bodies, typical for Fabry’s disease. The patient has been treated with alpha-Gal A replacement for 8 months without any side effects. This case illustrates the formation of an apical aneurysm as a novel presentation of Fabry’s disease, akin to its HCM phenocopy. Meticulous imaging and high degree of suspicion are needed for diagnosis and may impact management decisions for HCM phenocopies. L, lateral wall of the left ventricle; RV, right ventricle.
Myocardial adrenergic innervation and cardiac function
22. Sharir T, Berman DS, Waechter PB, Areeda J, Kavanagh PB, Gerlach J et al. Quantitative analysis of regional motion and thickening by gated myocardial perfusion SPECT: normal heterogeneity and criteria for abnormality. J Nucl Med 2001;42:1630–8. 23. Shah AM, Bourgoun M, Narula J, Jacobson AF, Solomon SD. Influence of ejection fraction on the prognostic value of sympathetic innervation imaging with iodine-123MIBG in heart failure. J Am Coll Cardiol Imaging 2012;5:1139 –46. 24. Kasama S, Toyama T, Hatori T, Sumino H, Kumakura H, Takayama Y et al. Evaluation of cardiac sympathetic nerve activity and left ventricular remodelling in patients with dilated cardiomyopathy on the treatment containing carvedilol. Eur Heart J 2007;28: 989 –95. 25. Sakata K, Mochizuki M, Yoshida H, Nawada R, Ohbayashi K, Ishikawa J et al. Cardiac sympathetic dysfunction contributes to left ventricular remodeling after acute myocardial infarction. Eur J Nucl Med 2000;27:1641 –9.
26. Akashi YJ, Nakazawa K, Sakakibara M, Miyake F, Musha H, Sasaka K. 123I-MIBG myocardial scintigraphy in patients with ‘Takotsubo’ cardiomyopathy. J Nucl Med 2004; 45:1121 –7. 27. Matsunari I, Schricke U, Bengel FM, Haase HU, Barthel P, Schmidt G et al. Extent of cardiac sympathetic imaging is determined by the area of ischemia in patients with acute coronary syndrome. Circulation 2000;101:2579 –85. 28. Zhao C, Shuke N, Yamamoto W, Okizaki A, Sato J, Ishikawa Y et al. Comparison of cardiac sympathetic nervous function with left ventricular function and perfusion in cardiomyopathies by 123I-MIBG SPECT and 99mTc-tetrofosmin electrocardiographically gated SPECT. J Nucl Med 2001;42:1017 –24. 29. Estorch M, Narula J, Flotats A, Marı´ C, Tembl A, Martı´n JC et al. Concordance between rest MIBG and exercise tetrofosmin defects: possible use of rest MIBG imaging as a marker of reversible ischaemia. Eur J Nucl Med 2001;28:614 – 9.
IMAGE FOCUS
doi:10.1093/ehjci/jet197 Online publish-ahead-of-print 5 November 2013
.............................................................................................................................................................................
Left ventricular apical aneurysm: a novel phenotype of Fabry’s disease Anushree Agarwal1, Ahmed Malik2, Anthony C. DeFranco1, and A. Jamil Tajik1* 1 Aurora Cardiovascular Services, Aurora Sinai/Aurora St. Luke’s Medical Centers, University of Wisconsin School of Medicine and Public Health, 2801 W. Kinnickinnic River Parkway, #840, Milwaukee, WI 53215, USA and 2Milwaukee Nephrologists S.C., 2901 W. Kinnickinnic River Parkway, #405, Milwaukee, WI 53215, USA
* Corresponding author. Tel: +1 414 649 3909; Fax: +1 414 649 3551, Email: [email protected]
Published on behalf of the European Society of Cardiology. All rights reserved. & The Author 2013. For permissions please email: [email protected]
Downloaded from by guest on November 17, 2015
A 63-year-old man with a history of chronic kidney disease and atrial flutter status post ablation and permanent pacemaker implant presented with worsening shortness of breath. Echocardiogram revealed asymmetric left ventricular wall thickness involving the posterior wall and midventricular septum (S) with maximal thickness of 28 mm, midventricular obstruction (gradient 19 mmHg), moderate mitral regurgitation, and Grade II diastolic dysfunction. An apical aneurysm was identified using contrast echocardiography (Panels A– C, arrows) and by computed tomography (Panel D, arrows). A diagnosis of hypertrophic cardiomyopathy (HCM) phenotype was made. However, the alpha-galactosidase level was low. Genetic testing confirmed mutation of alpha-galactosidase A (alpha-Gal A) gene while genetic testing for HCM was negative. Electron microscopy of renal tissue showed hypertrophic vacuolated cells with electron-dense concentric lamellar bodies, typical for Fabry’s disease. The patient has been treated with alpha-Gal A replacement for 8 months without any side effects. This case illustrates the formation of an apical aneurysm as a novel presentation of Fabry’s disease, akin to its HCM phenocopy. Meticulous imaging and high degree of suspicion are needed for diagnosis and may impact management decisions for HCM phenocopies. L, lateral wall of the left ventricle; RV, right ventricle.
