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Long-term Survival of a Patient with Isolated Noncompaction of the Ventricular Myocardium
CASE REPORTS
Long-term Survival of a Patient with Isolated Noncompaction of the Ventricular Myocardium Vera M.C. Salemi, MD, PhD, Carlos E. Rochitte, MD, PhD, Pedro Lemos, MD, PhD, Luiz A. Benvenuti, MD, PhD, Cristiane G. Pita, MD, and Charles Mady, MD, PhD, São Paulo, Brazil
Isolated noncompaction of the myocardium (INCM) is a rare, congenital, unclassified cardiomyopathy. It is caused by a disorder in endomyocardial morphogenesis in the absence of other structural disease. INCM is characterized by numerous prominent trabeculations and deep intertrabecular recesses in the myocardium. Frequently, INCM is associated with an increased incidence of heart failure, arrhythmias, and cardioembolic events with high morbidity and mortality. We describe a 28-year-old woman experiencing symptoms of heart failure since she was 4 years old. She had been intensively investigated
CASE REPORT
A 28-year-old woman with heart failure has been followed up at our institution since she was 4 years old. She was submitted to hemodynamic study in 1996 (Figure 1, A), and right ventricular endomyocardial biopsy in 1999 (Figure 1, B and C). During the course of her disease, the diagnosis of dilated cardiomyopathy (CMP), idiopathic restrictive CMP, endomyocardial fibrosis, and apical hypertrophic CMP were suggested. The diagnosis of isolated noncompaction of the myocardium (INCM) was only confirmed at the age of 28 years. Currently, she is in New York Heart Association (NYHA) functional class II; cardiac magnetic resonance imaging clearly defined INCM (Figure 2, A). The late enhancement was normal, indicating the absence of macroscopic myocardial fibrosis regions. A repeated echocardiogram revealed mild left ventricular (LV) dilation with interventricular septum aneurysm, moderate From the Cardiomyopathy Unit (V.M.C.S., C.G.P., C.M.), Magnetic Resonance Section (C.E.R.), Hemodynamic Section (P.L.), and Pathology Laboratory (L.A.B.) of the Heart Institute (InCor), University of São Paulo Medical School. Reprint requests: Vera Maria Cury Salemi, MD, PhD, Av Jandira 185, apt 41B Indianópolis, São Paulo, Brazil 04080-000 (E-mail: [email protected]). 0894-7317/$32.00 Copyright 2006 by the American Society of Echocardiography. doi:10.1016/j.echo.2005.11.005
and misdiagnosed as having dilated, restrictive, and apical hypertrophic cardiomyopathies. Cardiac magnetic resonance and echocardiography recently revealed the actual diagnosis of INCM. The patient is alive and well, taking vasodilators and warfarin. Herein, we describe the long-term follow-up of this patient and demonstrate that some patients have a favorable prognosis. In addition, the improvement in noninvasive cardiac imaging has revealed a higher prevalence of INCM, previously undetected. (J Am Soc Echocardiogr 2006;19:354.e1-354.e3.)
LV systolic dysfunction with apical trabeculations, color Doppler flow in deep perfused intertrabecular recesses (Figure 2, B and C), and pulmonary artery pressure of 65 mm Hg. The LV filling pattern was restrictive (Figure 3, A, B, and C) with decreased systolic and diastolic myocardial velocities of the septum; lateral, anterior, and posterior mitral annuli; and the ratio of peak of early mitral inflow velocity/peak early diastolic septal mitral annual velocity (E/E=) of 19, reflecting increased LV end-diastolic pressure. In addition, the end-systolic ratio of noncompacted endocardial/compacted epicardial layers was greater than 2. The left atrium size increased 10% compared with the size indicated on the echocardiogram performed in 2001, reflecting chronic diastolic dysfunction. Because of its association with a genetic background, a family screening was performed and showed a 7-year-old asymptomatic son with INCM, affecting the LV apex with preserved global systolic function.
DISCUSSION We describe a patient with symptoms of heart failure from the time she was 4 years old. The patient was confirmed as having LV dysfunction since the first evaluation, probably caused by INCM. Although the patient was intensively investigated, we only recognized the disease many years later. This case highlights the improvements
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Journal of the American Society of Echocardiography March 2006
in symptoms with medical therapy and prolonged survival with a decrease in NYHA functional class in a disease still associated with a poor prognosis. Reinforcing our findings, recently one study suggested a better prognosis in patients with INCM, in agreement with our report.1 Although her echocardiographic window is limited, she presents the typical findings of INCM as ratio of noncompacted to compacted thickness greater than 2, predominant localization of the trabeculations apical to the papillary muscles, and evidence of color Doppler flow in deep perfused intertrabecular recesses. In addition, the differential diagnosis of INCM includes dilated, restrictive, and apical hypertrophic CMPs; endomyocardial fibrosis; and LV thrombus. The image quality of the echocardiograms taken in a prior-generation machine and the lack of physician awareness may have limited the identification of our patient’s diagnosis. Thus, the diffusion of the knowledge of this disease and the improvement in imaging techniques primarily with better delineation of the endocardial border made this diagnosis possible.2 Although this diagnosis was made by cardiac magnetic resonance, which can provide multiple tomographic views, echocardiography with a second harmonic image remains the first-line noninvasive diagnostic tool for INCM.
Figure 1 A, Left ventriculography suggestive of hypertrophy. B, Mild cardiomyocyte hypertrophy present in endomyocardial biopsy specimen (hematoxylin-eosin stain). C, Mild interstitial fibrosis present in endomyocardial biopsy specimen (Masson’s trichome stain). Mean cross-sectional diameter of cardiomyocytes was 18.6 ⫾ 4.1 m, and fractional area occupied by collagen was 12.4%, characterizing mild hypertrophy and interstitial fibrosis.
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Figure 2 A, Cardiac magnetic resonance showing severe enlargement of left atrium (LA), mild increase in left ventricle (LV) with moderate systolic dysfunction and septal aneurysm, multiple trabeculations, and deep intertrabecular recesses of LV and right ventricle (RV) clearly defining intertrabecular recesses in myocardium. B, Apical 4-chamber view showing LV apical and septal trabeculations and mild mitral regurgitation, C, Apical trabeculations with blood flow penetrating spaces. LA, Left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle.
Figure 3 A, Mitral inflow with E/A greater than 2. B, Pulmonary venous flow with S/D less than 1. C, Decreased systolic and early diastolic septal mitral annular velocities. Taken together, these findings reflect left ventricular (LV) impaired relaxation and decreased LV compliance. A, Late mitral inflow velocity; A=, late diastolic septal mitral annular velocities; D, diastolic pulmonary venous flow velocity; E, early mitral inflow velocity; E=, early diastolic septal mitral annular velocities; IVS, interventricular septum; S, systolic pulmonary venous flow velocity; S=, systolic septal mitral annular velocity. REFERENCES 1. Murphy RT, Thaman R, Blanes JG, Ward D, Sevdalis E, Papra E, et al. Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J 2005;26:187-92.
2. Salemi VMC, Araújo AQ, Arteaga E, Mady C. Images in cardiology. Pitfalls in the echocardiographic diagnosis of isolated non-compaction of the ventricular myocardium. Heart 2005;91:1382.
Long-term Survival of a Patient with Isolated Noncompaction of the Ventricular Myocardium Vera M.C. Salemi, MD, PhD, Carlos E. Rochitte, MD, PhD, Pedro Lemos, MD, PhD, Luiz A. Benvenuti, MD, PhD, Cristiane G. Pita, MD, and Charles Mady, MD, PhD, São Paulo, Brazil
Isolated noncompaction of the myocardium (INCM) is a rare, congenital, unclassified cardiomyopathy. It is caused by a disorder in endomyocardial morphogenesis in the absence of other structural disease. INCM is characterized by numerous prominent trabeculations and deep intertrabecular recesses in the myocardium. Frequently, INCM is associated with an increased incidence of heart failure, arrhythmias, and cardioembolic events with high morbidity and mortality. We describe a 28-year-old woman experiencing symptoms of heart failure since she was 4 years old. She had been intensively investigated
CASE REPORT
A 28-year-old woman with heart failure has been followed up at our institution since she was 4 years old. She was submitted to hemodynamic study in 1996 (Figure 1, A), and right ventricular endomyocardial biopsy in 1999 (Figure 1, B and C). During the course of her disease, the diagnosis of dilated cardiomyopathy (CMP), idiopathic restrictive CMP, endomyocardial fibrosis, and apical hypertrophic CMP were suggested. The diagnosis of isolated noncompaction of the myocardium (INCM) was only confirmed at the age of 28 years. Currently, she is in New York Heart Association (NYHA) functional class II; cardiac magnetic resonance imaging clearly defined INCM (Figure 2, A). The late enhancement was normal, indicating the absence of macroscopic myocardial fibrosis regions. A repeated echocardiogram revealed mild left ventricular (LV) dilation with interventricular septum aneurysm, moderate From the Cardiomyopathy Unit (V.M.C.S., C.G.P., C.M.), Magnetic Resonance Section (C.E.R.), Hemodynamic Section (P.L.), and Pathology Laboratory (L.A.B.) of the Heart Institute (InCor), University of São Paulo Medical School. Reprint requests: Vera Maria Cury Salemi, MD, PhD, Av Jandira 185, apt 41B Indianópolis, São Paulo, Brazil 04080-000 (E-mail: [email protected]). 0894-7317/$32.00 Copyright 2006 by the American Society of Echocardiography. doi:10.1016/j.echo.2005.11.005
and misdiagnosed as having dilated, restrictive, and apical hypertrophic cardiomyopathies. Cardiac magnetic resonance and echocardiography recently revealed the actual diagnosis of INCM. The patient is alive and well, taking vasodilators and warfarin. Herein, we describe the long-term follow-up of this patient and demonstrate that some patients have a favorable prognosis. In addition, the improvement in noninvasive cardiac imaging has revealed a higher prevalence of INCM, previously undetected. (J Am Soc Echocardiogr 2006;19:354.e1-354.e3.)
LV systolic dysfunction with apical trabeculations, color Doppler flow in deep perfused intertrabecular recesses (Figure 2, B and C), and pulmonary artery pressure of 65 mm Hg. The LV filling pattern was restrictive (Figure 3, A, B, and C) with decreased systolic and diastolic myocardial velocities of the septum; lateral, anterior, and posterior mitral annuli; and the ratio of peak of early mitral inflow velocity/peak early diastolic septal mitral annual velocity (E/E=) of 19, reflecting increased LV end-diastolic pressure. In addition, the end-systolic ratio of noncompacted endocardial/compacted epicardial layers was greater than 2. The left atrium size increased 10% compared with the size indicated on the echocardiogram performed in 2001, reflecting chronic diastolic dysfunction. Because of its association with a genetic background, a family screening was performed and showed a 7-year-old asymptomatic son with INCM, affecting the LV apex with preserved global systolic function.
DISCUSSION We describe a patient with symptoms of heart failure from the time she was 4 years old. The patient was confirmed as having LV dysfunction since the first evaluation, probably caused by INCM. Although the patient was intensively investigated, we only recognized the disease many years later. This case highlights the improvements
354.e1
354.e2 Salemi et al
Journal of the American Society of Echocardiography March 2006
in symptoms with medical therapy and prolonged survival with a decrease in NYHA functional class in a disease still associated with a poor prognosis. Reinforcing our findings, recently one study suggested a better prognosis in patients with INCM, in agreement with our report.1 Although her echocardiographic window is limited, she presents the typical findings of INCM as ratio of noncompacted to compacted thickness greater than 2, predominant localization of the trabeculations apical to the papillary muscles, and evidence of color Doppler flow in deep perfused intertrabecular recesses. In addition, the differential diagnosis of INCM includes dilated, restrictive, and apical hypertrophic CMPs; endomyocardial fibrosis; and LV thrombus. The image quality of the echocardiograms taken in a prior-generation machine and the lack of physician awareness may have limited the identification of our patient’s diagnosis. Thus, the diffusion of the knowledge of this disease and the improvement in imaging techniques primarily with better delineation of the endocardial border made this diagnosis possible.2 Although this diagnosis was made by cardiac magnetic resonance, which can provide multiple tomographic views, echocardiography with a second harmonic image remains the first-line noninvasive diagnostic tool for INCM.
Figure 1 A, Left ventriculography suggestive of hypertrophy. B, Mild cardiomyocyte hypertrophy present in endomyocardial biopsy specimen (hematoxylin-eosin stain). C, Mild interstitial fibrosis present in endomyocardial biopsy specimen (Masson’s trichome stain). Mean cross-sectional diameter of cardiomyocytes was 18.6 ⫾ 4.1 m, and fractional area occupied by collagen was 12.4%, characterizing mild hypertrophy and interstitial fibrosis.
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Figure 2 A, Cardiac magnetic resonance showing severe enlargement of left atrium (LA), mild increase in left ventricle (LV) with moderate systolic dysfunction and septal aneurysm, multiple trabeculations, and deep intertrabecular recesses of LV and right ventricle (RV) clearly defining intertrabecular recesses in myocardium. B, Apical 4-chamber view showing LV apical and septal trabeculations and mild mitral regurgitation, C, Apical trabeculations with blood flow penetrating spaces. LA, Left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle.
Figure 3 A, Mitral inflow with E/A greater than 2. B, Pulmonary venous flow with S/D less than 1. C, Decreased systolic and early diastolic septal mitral annular velocities. Taken together, these findings reflect left ventricular (LV) impaired relaxation and decreased LV compliance. A, Late mitral inflow velocity; A=, late diastolic septal mitral annular velocities; D, diastolic pulmonary venous flow velocity; E, early mitral inflow velocity; E=, early diastolic septal mitral annular velocities; IVS, interventricular septum; S, systolic pulmonary venous flow velocity; S=, systolic septal mitral annular velocity. REFERENCES 1. Murphy RT, Thaman R, Blanes JG, Ward D, Sevdalis E, Papra E, et al. Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J 2005;26:187-92.
2. Salemi VMC, Araújo AQ, Arteaga E, Mady C. Images in cardiology. Pitfalls in the echocardiographic diagnosis of isolated non-compaction of the ventricular myocardium. Heart 2005;91:1382.