6. Sagristà-Sauleda J., Angel J., Sánchez A.et al. Am Heart J 1999; 138: 219. : "Left ventricular structure and function in transthyretin-related versus light-chain cardiac amyloidosis". J Am Coll Cardiol 1999; 33: 1182. J Clin Invest 2002; 109: 357. TY - CHAP. 57. Phlebotomy is the first-line treatment for primary hemochromatosis. An ECG finding of low voltage in a HFpEF patient with increased LV wall thickness by echocardiography should raise the suspicion of cardiac amyloidosis. The relative utility of contrast CMR or positron emission tomography with 18F-fluorodeoxyglucose versus serum biomarkers of inflammation in guiding therapy, however, remains to be determined. CMR Obtained in a Patient With HFpEF Secondary to EMF. 56. Restrictive cardiomyopathy … : "Diagnostic role of Doppler echocardiography in constrictive pericarditis". Restrictive cardiomyopathy is characterized by a nondilated rigid ventricle, resulting in severe diastolic dysfunction and restrictive filling that produces hemodynamic changes similar to those in constrictive … Ventricular arrhythmias and SCD are common. Failure to improve or recurrence of symptoms is often due to incomplete pericardiectomy, thus warranting referral to experienced cardiac surgeons. and Cohen G.I. Myocardial relaxation is impaired in restrictive cardiomyopathies, but is typically normal in constrictive pericarditis (106–108). Advanced impairment of LV diastolic filling is invariably present. Ann Thorac Surg 2001; 72: 924. 11. Klein A.L., Hatle L.K., Taliercio C.P.et al. : "The pathogenesis of cardiomyopathy in Friedreich ataxia". 118. Nevertheless, LV wall thickness may be normal in 5% of patients with histologically confirmed cardiac involvement (43). 77. Patients with cardiac amyloidosis require a greater degree of scrutiny for complications of therapy than other patients. Echocardiography may detect the presence of a thickened (>4 mm) pericardium, but is less useful than computed tomography (CT) and CMR to define the pericardial anatomy. N Engl J Med 2008; 359: 2456. Additionally, radiation may result in premature proximal coronary artery disease as well as valvular heart disease. 49. Cardiac transplantation in patients who have advanced HF refractory to medical therapy has been reported to achieve a 10-year survival of 40% (88). 37. N Engl J Med 2004; 350: 469. : "Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans". 52. Patients with symptomatic cardiac amyloidosis present with typical findings of HF with preserved ejection fraction (HFpEF). ECG-gated cine images can demonstrate a septal bounce (119,120), although unlike echocardiography and CMR, cardiac CT is acquired over 1 to 4 cardiac cycles and cannot be used to evaluate respiratory-induced changes. As of today, more than 80 mutations have been described. Quarta C.C., Solomon S.D., Uraizee I.et al. Clin Genet 2004; 66: 158. As many as 10-15% have either restrictive cardiomyopathy or constrictive pericarditis. CMR provides additional diagnostic information by detecting subendocardial fibrosis. A low voltage electrocardiogram (ECG) and increased wall thickness with abnormal texture on echocardiography are the classic findings. Sachdev B., Takenaka T., Teraguchi H.et al. : "The efficacy of brain natriuretic peptide levels in differentiating constrictive pericarditis from restrictive cardiomyopathy". CMR Images Demonstrating Late Enhancement of the Pericardium in a Patient With Constriction. Eur Heart J 1991; 12: 224. The Central Illustration compares the morphological and hemodynamic features of normal, restrictive, and constrictive hearts. CMR has high accuracy in the diagnosis of myocardial iron overload. Mirelis J.G., Garcia-Alvarez A., Fernandez-Friera L. "Respiratory ventricular area changes measured with real-time cardiac magnetic resonance: a new, accurate, and reproducible approach for the diagnosis of pericardial constriction", "Restrictive cardiomyopathy versus constrictive pericarditis: role of endomyocardial biopsy in avoiding unnecessary thoracotomy", Catheterization and Cardiovascular Interventions, Current Medical Imaging Formerly Current Medical Imaging Reviews, Journal of Cardiothoracic and Vascular Anesthesia, Journal of The Indian Academy of Echocardiography & Cardiovascular Imaging, Journal d'imagerie diagnostique et interventionnelle, Medicine - Programa de Formación Médica Continuada Acreditado, Listen to this manuscript's audio summary by, H/O parasitic infestation, hematologic malignancy, autoimmune disorder, Apical thrombus and tethering with preserved contractility, Apical thrombus, endocardial late enhancement, Endocardial fibrosis, eosinophilic infiltrates, Macroglosia, periorbital ecchymosis, orthostatic hypotension, Increased LV wall thickness, valvular and intra-atrial septal thickening, Diffuse subendocardial and atrial late enhancement, Apple-green birefringence in Congo Red staining, immunohistochemical staining using specific antibodies, Increased LV wall thickness, valve thickening, Curvilinear bodies, lysosomes, myeloid bodies, and glycogen granules, Radiation lung injury, valvular calcification, Hyperpigmentation, liver failure, diabetes mellitus, Decreased myocardial signal on T2 weighted images, decreased T2, Concentric lamellar bodies on electron microscopy, Increased LV wall thickness, LVOT obstruction, Reduced cardiac frataxin, Fe-reactive inclusions in cardiomyocytes, Septal bounce, high e′, exaggerated respiratory flow variability, Pericardial thickening, ventricular interdependence, pericardial late enhancement, Pericardial fibrosis/inflammation, normal myocardium, Bortezomib-based chemotherapy, stem cell transplant, ICD. 98. Leya F.S., Arab D., Joyal D.et al. Bortezomib-based regimens have shown near complete remission of plasma cell dyscrasias and are now considered to be the preferred treatment option (58). Am Heart J 2006; 152: 75. Mikhael J.R., Schuster S.R., Jimenez-Zepeda V.H. Circulation 2014; 129: 1840. Recent data support the benefit of implantable cardioverter-defibrillators for primary prevention of sudden cardiac death (SCD) (60). 75, No. In constrictive pericarditis, the signal intensity of the thickened pericardium was similar or decreased compared with that of the myocardium. : "99mTc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses". By Michael H. Crawford, MD. © 2021 American College of Cardiology Foundation. Symptoms are largely mediated by reduced left ventricular compliance and diastolic dysfunction. Vaitkus PT, Kussmaul WG. Enzyme replacement therapy with agalsidase beta in patients with Fabry disease reduces globotriaosylceramide levels in infiltrated tissues throughout the body (75). Mutations in genes encoding the sarcomeric proteins troponin I, troponin T, alpha cardiac actin, and beta-myosin heavy chain, which are similar to those associated with hypertrophic cardiomyopathy, are implicated (18,19). : "Septal bounce in constrictive pericarditis. J Am Coll Cardiol 2006;47:1489-91. It is an X-linked recessive disorder that results in reduced or absent activity of α-galactosidase and progressive lysosomal accumulation of glycosphingolipids in kidneys, nerves, and cardiac tissue. 5. : "Differentiation of constrictive pericarditis from restrictive cardiomyopathy by Doppler transesophageal echocardiographic measurements of respiratory variations in pulmonary venous flow". Blood 2009; 114: 4957. Illustration of the Effects of Changes in Intrathoracic and Intracardiac Pressures During Respiration in Normal Versus Constrictive Heart. : "Doppler echocardiographic assessment of constrictive pericarditis, cardiac amyloidosis, and cardiac tamponade". Another aspect of ventricular interdependence, characteristic of constrictive pericarditis in contrast to restrictive cardiomyopathy, is the discordant variation of right and left ventricular peak systolic pressure levels with respiration. Circulation 2002; 105: 1407. Restrictive cardiomyopathy … 29. Parasitic infections, autoimmune disorders, and hematologic malignancies lead to an initial, acute inflammatory phase with fever and pancarditis, frequently associated with eosinophilia, facial and periorbital swelling, and urticaria, also known as Loeffler endocarditis (26,27). CMR shows nonspecific patchy late enhancement, which correlates with the extent of cardiac fibrosis. Eur Heart J 2003; 24: 2151. : "Clinical and echocardiographic features of hypereosinophilic syndromes". Beta-blockers and angiotensin-converting enzyme inhibitors are poorly tolerated. Listen to this manuscript's audio summary by JACC Editor-in-Chief Dr. Valentin Fuster. : "Pericardiectomy for constrictive pericarditis using the harmonic scalpel". : "Constrictive pericarditis: etiology and cause-specific survival after pericardiectomy". : "Cardiac transplantation in patients with iron overload cardiomyopathy". : "Differentiation between restrictive cardiomyopathy and constrictive pericarditis by early diastolic Doppler myocardial velocity gradient at the posterior wall". A 25-year-old man with the recent onset of diabetes mellitus and congestive heart failure". Anderson-Fabry disease was also reported to be associated with a prolonged myocardial T2 relaxation time (72). Varr B.C., Zarafshar S., Coakley T.et al. However, the sensitivity is much lower for detecting m-TTR amyloid. : "Implantable cardioverter-defibrillator placement in patients with cardiac amyloidosis". Echocardiography demonstrates increased wall thickening and restrictive LV filling that may improve after cessation of therapy (62). Heart 2008; 94: 153. Heart 1999; 81: 141. Circulation 2002; 106: 2091. Clinically, the patients present with a virtually identical constellation of signs and … : "Electrocardiographic findings in primary systemic amyloidosis and biopsy-proven cardiac involvement". Int J Cardiol 2013; 166: 267. CMR often provides additional diagnostic information due to its ability to detect subendocardial fibrosis and its greater sensitivity for ventricular thrombus detection (Figure 1) (29,30). Friedreich's ataxia is an autosomal recessive neurodegenerative disorder caused by a mutation of the frataxin gene that manifests in the second to third decade of life with diabetes mellitus, ataxia, and HF (89). Olson L.J., Edwards W.D., Holmes D.R.et al. and Fishbein M.C. The ECG and echocardiographic features are similar to those seen in hypertrophic cardiomyopathy (65,66). In constrictive pericarditis, e′ is invariably increased and, unlike normal subjects, patients with constriction have septal >lateral wall e′ (117). 34. (similar to restrictive cardiomyopathy or RV infarct) Elevated mean (CVP) pressure, prominent a and v waves, steep x and y … Am J Cardiol 1997; 80: 93. 48. Endomyocardial biopsy may be useful to avoid unnecessary thoracotomy in patients with significant myocardial involvement who may not respond to pericardiectomy (122). CMR may show a mid-myocardial pattern of late enhancement of the basal inferolateral wall, or a more diffuse pattern in patients with severe LVH (71). 85. 2001 Jan 1; 87 (1):86–94. : "Trends in prevalence and outcome of heart failure with preserved ejection fraction". This is the case of a patient who presented with severe right-sided heart failure due to diastolic dysfunction that caused a dilemma of differential diagnosis between restrictive cardiomyopathy and constrictive pericarditis. Atrial fibrillation is common. and Lorell B.H. Liver and combined liver–cardiac transplantation may improve survival in these patients when there is significant liver involvement. Mass spectrometry is superior to immunohistochemistry in identifying amyloid type, with sensitivity and specificity more than 98% (53). Patients with restrictive cardiomyopathy typically exhibit HF symptoms, such as dyspnea and fatigue. Pericardiectomy can be performed with low mortality and result in significant improvement in survival and quality of life. Decreased venous return from the superior vena cava, which is exposed, is the hemodynamic alteration that produces Kussmaul’s sign (111). Circulation 2003; 108: 1299. Comparison of new Doppler echocardiographic methods to differentiate constrictive pericardial heart disease and restrictive cardiomyopathy. : "Serum cardiac troponins and N-terminal pro-brain natriuretic peptide: a staging system for primary systemic amyloidosis". 83. Pitt B., Pfeffer M.A., Assmann S.F., et al. 71. Doppler imaging confirms the concurrent diastolic dysfunction. : "Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype". Ommen S.R., Seward J.B. and Tajik A.J. 51. Wild-type transthyretin (wt-TTR) amyloidosis (previously referred to as senile amyloidosis) is seen in 25% to 36% of patients above 80 years of age (33,34) and is caused by the interstitial deposition of normal, wt-TTR. Amaki M, Savino J, Ain DL, et al. Over time, the restrictive phenotype evolves into a dilated phenotype. Mavrogeni S.I., Markussis V., Kaklamanis L.et al. Eur Heart J 2001; 22: 2171. Cardiac involvement is associated with a poor prognosis, with a median survival from diagnosis of 1 year (32). N2 - Approximately 50% of all patients with … : "The challenge of cardiomyopathy". J Am Coll Cardiol 2004; 43: 1445. Syed I.S., Martinez M.W., Feng D.L.et al. This is the case of a patient who presented with severe right-sided heart failure due to diastolic dysfunction that caused a dilemma of differential diagnosis between restrictive cardiomyopathy and constrictive pericarditis. Involvement ( 42 ) or constrictive pericarditis: clinical and molecular studies of water... Highly sensitive for detecting pericardial calcification is often due to tethering of the posterior wall '' radiation! With iron overload may cause diastolic dysfunction atrial late enhancement of the effects of agalsidase alfa treatment.... 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