Comparison of Morphological and Hemodynamic Characteristics of Normal, Restrictive, and Constrictive Hearts. Anderson L.J., Holden S., Davis al. Rectal biopsy has been largely replaced by abdominal fat aspiration, which carries a lower risk of serious complications and appears more sensitive (84% to 88%) for AL and wt-TTR types (50). J Am Coll Cardiol 2007; 49: 2419. : "The pathogenesis of cardiomyopathy in Friedreich ataxia". (A) Normal subject. Over time, the restrictive phenotype evolves into a dilated phenotype. A comprehensive review of TTR amyloidosis was recently published in the Journal(39). 78. Jacobson D.R., Pastore R.D., Yaghoubian al. 66. A clinicopathologic correlation", "Senile systemic amyloidosis, cerebral amyloid angiopathy, and dementia in a very old Finnish population", "Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis", "Electrocardiography and Doppler echocardiography in secondary (AA) amyloidosis", "Sporadic cases of hereditary systemic amyloidosis". 105. Enzyme replacement therapy with agalsidase beta in patients with Fabry disease reduces globotriaosylceramide levels in infiltrated tissues throughout the body (75). "Restrictive cardiomyopathy caused by chloroquine". Transient constrictive pericarditis due to post-pericardiotomy syndrome, tuberculous, or viral pericarditis may respond to anti-inflammatory therapy (103). Pulsus paradoxus is rare and usually indicates effusive–constrictive disease. 31. : "Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes". Kussmaul’s sign, described as a failure to decrease or a paradoxical increase in jugular venous pressure during inspiration, is relatively specific when present. Talreja D.R., Edwards W.D., Danielson al. Circulation 2000; 101: 2490. CMR has high accuracy in the diagnosis of myocardial iron overload. Mirelis J.G., Garcia-Alvarez A., Fernandez-Friera al. Hurrell D.G., Nishimura R.A., Higano al. Echocardiography demonstrates increased wall thickening and restrictive LV filling that may improve after cessation of therapy (62). 81. : "Trends in prevalence and outcome of heart failure with preserved ejection fraction". Sagristà-Sauleda J., Angel J., Sánchez A. Rajagopalan N., Garcia M.J., Rodriguez L. "Comparison of new Doppler echocardiographic methods to differentiate constrictive pericardial heart disease and restrictive cardiomyopathy", "Differentiation between restrictive cardiomyopathy and constrictive pericarditis by early diastolic Doppler myocardial velocity gradient at the posterior wall", "Differentiation of constrictive pericarditis from restrictive cardiomyopathy: assessment of left ventricular diastolic velocities in longitudinal axis by Doppler tissue imaging". : "Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy". 64. Weller R.J., Weintraub R., Addonizio al. Diagnosis of systemic amyloidosis may be attempted with rectal submucosal or abdominal fat pad biopsy. CMR T2-Weighted Images Obtained From a Normal Subject and a Patient With Hemochromatosis. Himelman R.B., Lee E. and Schiller N.B. 2001 Jan 1; 87 (1):86–94. J Am Coll Cardiol 2006;47:1489-91. Nevertheless, LV wall thickness may be normal in 5% of patients with histologically confirmed cardiac involvement (43). Atrial fibrillation and electrocardiographic (ECG) conduction abnormalities are common. The use of this drug is restricted by its limited availability and elevated cost. Endomyocardial fibrosis: myocardial disease". Cotroneo J., Sleik K.M., Rene Rodriguez al. Brit Heart J 1993; 69: 451. The differential diagnosis of the restrictive cardiomyopathies includes constrictive pericarditis, a syndrome that has a similar insidious clinical presentation and shares many common features in diagnostic imaging tests (4). Pieroni M., Chimenti C., Ricci al. Pericardiectomy can be performed with low mortality and result in significant improvement in survival and quality of life. A proposed algorithm to identify the probable etiology of HFpEF is shown in Figure 5. Eng C.M., Guffon N., Wilcox W.R., et al. Gertz M.A., Falk R.H., Skinner al. Indirect findings of impaired right ventricular diastolic filling (eg, dilatation of the inferior vena cava and right atrium) were identified in constrictive pericarditis and restrictive cardiomyopathy. Haley J.H., Tajik A.J., Danielson al. 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. CMR Images Demonstrating Late Enhancement of the Pericardium in a Patient With Constriction. Clin Genet 2001; 59: 248. 97. Findings on physical examination include elevated jugular venous pressure, presence of a third or fourth heart sound, pulmonary rales, ascites, and peripheral edema. Murtagh B., Hammill S.C., Gertz al. Heart 1998; 79: 362. Pitt B., Pfeffer M.A., Assmann S.F., et al. CMR Real-Time, Low-Resolution Images Obtained at End-Diastole in a Patient With Constrictive Pericarditis. 29. Garcia M.J., Rodriguez L., Ares al. Liver and combined liver–cardiac transplantation may improve survival in these patients when there is significant liver involvement. : "Early diastolic sound of constrictive pericarditis". 79. BNP for Differentiating Constrictive Pericarditis vs Restrictive Cardiomyopathy. In the ventricular tissue of irradiated hearts, there is a significant increase in total tissue collagen concentration (63), leading to decreased distensibility. 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. CMR shows nonspecific patchy late enhancement, which correlates with the extent of cardiac fibrosis. : "Diagnosis, prognosis, and therapy of transthyretin amyloidosis". Spinelli L., Pisani A., Sabbatini al. Schoenfeld M.H., Supple E.W., Dec al. Circulation 1991; 83: 808. Left and right ventricular (RV) wall thickness is normal or mildly increased in primary restrictive cardiomyopathy, but more commonly increased in the secondary forms. Although the etiology of HFpEF is most commonly related to long-standing hypertension and atherosclerosis, a significant number of suspected HFpEF patients have a restrictive cardiomyopathy or chronic pericardial disease. 40. Am J Cardiol 2000; 86: 110. J Am Coll Cardiol 2004; 43: 1445. Klein A.L. Varr B.C., Zarafshar S., Coakley al. A correct diagnosis is difficult to establish on clinical grounds alone; the tentative diagnosis needs to be confirmed by non-invasive multimodality imaging including two-dimensional (2D) and Doppler echocardio… : "Pathogenesis of edema in constrictive pericarditis. Arch Intern Med 2006; 166: 1805. (A) Short axis and (B) 4-chamber views. : "Endomyocardial biopsy in hemochromatosis: clinicopathologic correlates in six cases". Moreau P., Leblond V., Bourquelot al. J Clin Invest 2002; 109: 357. J Comput Assist Tomogr 2004; 28: 676. Ghersin E., Lessick J., Litmanovich al. : "Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy". Most patients with clinical HF, however, exhibit a dilated cardiomyopathy phenotype. Chemotherapy and stem cell transplantation for AL amyloid may prolong survival and increase quality of life if started early. Owan T.E., Hodge D.O., Herges al. : "Constrictive pericarditis in 26 patients with histologically normal pericardial thickness". Mikhael J.R., Schuster S.R., Jimenez-Zepeda V.H. In both restriction and constriction, LV chamber compliance is reduced. In constrictive pericarditis, the signal intensity of the thickened pericardium was similar or decreased compared with that of the myocardium. However, CMR has superior ability to evaluate pericardial distensibility (119). Iglesias Cubero G., Rodriguez Reguero J.J. and Rojo Ortega J.M. In patients with Anderson-Fabry disease, tissue Doppler echocardiography shows a decrease in systolic and diastolic myocardial velocities, even before development of LVH (70). 71. An ECG finding of low voltage in a HFpEF patient with increased LV wall thickness by echocardiography should raise the suspicion of cardiac amyloidosis. Eur Heart J 1991; 12: 224. Heart Rhythm 2014; 11: 158. Treatment includes sodium restriction and diuretic agents to reduce edema and hepatic congestion; however, definitive therapy will require surgical pericardiectomy. Mitral and tricuspid regurgitation are common due to tethering of the leaflets. 63. : "Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study". Cardiac amyloid deposition also occurs in isolated atrial and dialysis-related (β2 microglobulin) amyloidosis. Circulation 1996; 93: 841. The distribution of the restrictive myopathy can be highly variable with disproportionate right ventricular involvement common. The disease presents during childhood or adulthood with varying degrees of mental retardation, proteinuria, and/or unexplained left ventricular hypertrophy (LVH) and HFpEF (67). J Am Coll Cardiol 2005; 45: 1900. and TOPCAT Investigators: "Spironolactone for heart failure with preserved ejection fraction". Mutant TTR amyloidosis (m-TTR) is a systemic autosomal dominant disorder due to tissue deposition of various proteins, including TTR and apolipoproteins A-I and A-II (37), and is often associated with peripheral or autonomic neuropathy. 34. Feng D., Glockner J., Kim al. More recently, decreased global longitudinal strain has also been shown to be a strong predictor of reduced survival (46,47). 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. Brain natriuretic peptide levels in constrictive pericarditis and restrictive cardiomyopathy. Diagnosis and dynamic evaluation with multidetector CT". DeValeria P.A., Baumgartner W.A., Casale A.S. "Current indications, risks, and outcome after pericardiectomy", "Transient constrictive pericarditis: causes and natural history", "Cardiac magnetic resonance imaging pericardial late gadolinium enhancement and elevated inflammatory markers can predict the reversibility of constrictive pericarditis after antiinflammatory medical therapy: a pilot study". Both familial and sporadic cases have been described (16,17). Myocardial iron deposition results in lower T2 times, with decreased myocardial signals on T2-weighted images (Figure 4) (84). 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 … Patients can present with symptoms and signs of left ventricular failure and/or right ventricular failure 9. and International Collaborative Fabry Disease Study Group: "Safety and efficacy of recombinant human alpha-galactosidase A—replacement therapy in Fabry's disease". Cornwell G.G., Murdoch W.L., Kyle R.A., Westermark P. and Pitkänen P.: "Frequency and distribution of senile cardiovascular amyloid. (B) Patient with hemochromatosis. Blood 2012; 119: 4391. 73. QJM 1998; 91: 141. This review will consider the physiology of the normal pericardium and its dynamic interactions with the heart and review in detail the pathophysiology and clinical manifestations of cardiac tamponade, constrictive pericarditis, and restrictive cardiomyopathy. and Lorell B.H. About 10% of patients who are initially recognized as having cardiac tamponade present with signs and symptoms of constriction following pericardiocentesis (105). Doppler echocardiography is very useful for evaluating the altered physiology. how to distinguish between these two pathologies presenting with common clinical signs J Clin Oncol 2004; 22: 3751. CMR = cardiac magnetic resonance; EMF = endomyocardial fibrosis; HFpEF = heart failure with preserved ejection fraction; LV = left ventricle. abstract & commentary. : "Early detection of Fabry cardiomyopathy by tissue Doppler imaging". The reverse occurs during expiration. 35. Weller R.J., Weintraub R., Addonizio L.J. Case 31-1994. Severe atrial enlargement is a classic, albeit nonspecific feature. Approximately one-half of all patients with heart failure (HF) have preserved ejection fraction (HFpEF) (1). 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). There is no specific treatment for this condition other than standard HF drugs. Ackermann E.J., Guo S., Booten al. These results suggest that patients with constrictive pericarditis and restrictive … Ware S.M., Quinn M.E., Ballard al. Bograd A.J., Mital S., Schwarzenberger al. Conduction abnormalities and valvular thickening are common findings. 30. Am J Cardiol 1997; 80: 1046. Yokoyama A., Yamazoe M. and Shibata A.: "A case of heterozygous Fabry's disease with a short PR interval and giant negative T waves". 110. : "The clinical features of immunoglobulin light-chain (AL) amyloidosis with heart involvement". Kubo T., Gimeno J.R., Bahl al. : "A randomized, placebo-controlled, double-blind trial of the effect of combined therapy with deferoxamine and deferiprone on myocardial iron in thalassemia major using cardiovascular magnetic resonance". N Engl J Med 2002; 346: 1818. The CMR obtained in the same patient (D) shows diffuse subendocardial and atrial late enhancement. CMR = cardiac magnetic resonance. The causes of effusive–constrictive pericarditis are similar to those of typical constriction, although patients with this syndrome may have a more acute presentation and are more likely to respond to anti-inflammatory therapy. 121. 17. A positive noncardiac biopsy supports the diagnosis of cardiac amyloidosis if cardiac imaging diagnostic criteria are present. Other echocardiographic features include reversal of the lateral to medial annular velocities. 115. 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