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Restrictive Cardiomyopathy Loryn S. Feinberg Wednesday, April 20, 2005 Echocardiography Conference.

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Presentation on theme: "Restrictive Cardiomyopathy Loryn S. Feinberg Wednesday, April 20, 2005 Echocardiography Conference."— Presentation transcript:

1 Restrictive Cardiomyopathy Loryn S. Feinberg Wednesday, April 20, 2005 Echocardiography Conference

2 Restrictive Cardiomyopathy Definition Definition Characteristics Characteristics Clinical Presentation Clinical Presentation Classification Classification Specific Diseases & Echo Findings Specific Diseases & Echo Findings General Echo Features General Echo Features

3 Definition Idiopathic or systemic myocardial disease characterized by: Idiopathic or systemic myocardial disease characterized by: –Impaired ventricular filling –Elevated diastolic pressures –Normal or reduced diastolic volume of ventricle(s) –Normal/near normal systolic function until advanced stages

4 Clinical & Echo Characteristics Nondilated ventricle Nondilated ventricle Normal to increased wall thickness Normal to increased wall thickness Rigid ventricular walls Rigid ventricular walls –Severe diastolic dysfunction –Restrictive filling Elevated diastolic filling pressures Elevated diastolic filling pressures Dilated atria, elevated RA pressure Dilated atria, elevated RA pressure Pulmonary hypertension Pulmonary hypertension Inability to ↑ CO with exercise Inability to ↑ CO with exercise due to impaired filling Right sided failure Right sided failure Benotti, JR et al. Clinical profile of restrictive cm. Circ 80’ 61:1206

5 Clinical Presentation Signs of pulmonary and systemic congestion in absence of cardiomegaly Signs of pulmonary and systemic congestion in absence of cardiomegaly –Dyspnea –PND, orthopnea –Peripheral edema –Palpitations –Fatigue, weakness, exercise intolerance Thromboembolic complications (up to 1/3 with idiopathic RCM) Thromboembolic complications (up to 1/3 with idiopathic RCM) Cardiac conduction disturbances Cardiac conduction disturbances –Amyloid, sarcoid, hemochromatosis –AF common in IRCM & amyloidosis Advanced Stage Advanced Stage –Marked elevation in CVP Hepatosplenomegaly, ascites, anasarca Hepatosplenomegaly, ascites, anasarca

6 Physical Examination Pulse: normal or low amplitude/tachycardic [low SV] Pulse: normal or low amplitude/tachycardic [low SV] JVP: elevated with prominent x and y descents JVP: elevated with prominent x and y descents Kussmaul’s sign: JVP fails to fall or ↑es w/ inspiration Kussmaul’s sign: JVP fails to fall or ↑es w/ inspiration –Increased resistance to RA filling during inspiration LV impulse: normal LV impulse: normal S1, S2 normal, often S3 present S1, S2 normal, often S3 present –abrupt cessation of rapid ventricular filling Regurgitant murmurs Regurgitant murmurs Peripheral edema, ascites, pulsatile liver, HSM Peripheral edema, ascites, pulsatile liver, HSM

7 Differentiation from Constrictive Pericarditis Adapted from Hurst’s The Heart, 10 th ed Restrictive CM Constrictive Pericarditis History Systemic disease involving myocardium, mm, amyloid, cardiac transplant Acute pericarditis, cardiac surgery, chest trauma, systemic disease involving pericardium Chest X-ray Absence of calcification, massive atrial enlargement Helpful when calcification persists, moderate atrial enlargement ECG BBBs, AV block Abnormal repolarization CT/MRI Normal pericardium Helpful if thickened (>4 mm) pericardium Hemodynamics Helpful if unequal diastolic pressures; concordant effect of respiration on diastolic pressures Diastolic equilibration; dip and plateau Biopsy Fibrosis, hypertrophy, infiltration Normal

8 Kushwaha et al. 336 (4): 267, Table 1 January 23, 1997 Secondary restrictive physiology may occur in advanced stages of dilated, hypertrophic, hypertensive, ischemic heart disease

9 Myocardial, Non-infiltrative Idiopathic Idiopathic –Sporadic, AD, or AR – Familial type: part of spectrum of familial HCM? Different phenotypic expression of same genetic disease Different phenotypic expression of same genetic disease May be associated with distal skeletal myopathy, occasionally heart block [fibrosis of SA & AV nodes] May be associated with distal skeletal myopathy, occasionally heart block [fibrosis of SA & AV nodes] –Manifests at any age [childrens’ prognosis worse, adults’ course protracted] Incidence  in elderly, Incidence  in elderly, women  men –Survival time variable, mean 9 years –Disease of exclusion Marked patchy interstitial fibrosis

10 Idiopathic Restrictive CM: 2D Echo features Biatrial enlargement Biatrial enlargement Thrombi in atrial appendages Thrombi in atrial appendages Cavity size/ wall thickness normal Cavity size/ wall thickness normal Normal or reduced global systolic function Normal or reduced global systolic function Right ventricle eventually enlarges [depending on degree of PH] Right ventricle eventually enlarges [depending on degree of PH] May have patchy, granular sparkling appearance May have patchy, granular sparkling appearance Non-dilated, non-hypertrophied ventricles with dilated atria

11 Myocardial, Non-infiltrative Scleroderma Scleroderma –Myocardial fibrosis, contraction band necrosis [dense bands through myofibers often seen after ischemiai w. reperfusion] Often patchy, may be biventricular Often patchy, may be biventricular –Microvascular occlusions → ischemia –Fibrinous pericarditis, effusions –Ventricular conduction abnormalities Heart block, SVTs, VT, pseudoinfarction patterns on ECG Heart block, SVTs, VT, pseudoinfarction patterns on ECG – Pulmonary hypertension leading cause of morbidity/mortality Fibrous tissue replacement: Thinned papillary muscles & LV wall Braunwald, Heart Disease; 6 th edition

12 Myocardial, Infiltrative Amyloid Amyloid – Primary: – Primary: light chain immunoglobulin overproduction from monoclonal plasma cells (multiple myeloma) 50% clinical cardiac involvement 50% clinical cardiac involvement – Secondary: – Secondary: fragments of serum amyloid A protein Chronic inflammatory conditions (Crohn’s, RA, Tb, FMF) Chronic inflammatory conditions (Crohn’s, RA, Tb, FMF) 10% clinical cardiac involvement 10% clinical cardiac involvement – Familial & Senile: overproduction of transthyretin [>50 mutations] Familial usually AD, associated with ascending peripheral & autonomic neuropathy Familial usually AD, associated with ascending peripheral & autonomic neuropathy ‹ 5% clinical cardiac involvement ‹ 5% clinical cardiac involvement Dx: endomyocardial or fat biopsy Left: prominent interstitium, expansion by acellular, eosinophilic substance. [Uneven size myocardial cells, vacuolated] Right: affinity for sulfated alcian blue (histochemical equivalent of congo red stain)

13 Myocardial, Infiltrative Amyloid Amyloid –Deposits may be interstitial & widespread: Myocardial Dysfunction: Myocardial Dysfunction: –Diffuse infiltration of myocardium with stiff beta-pleated fibrils →impaired relaxation, diastolic dysfunction –Replacement of functional myocardium with amyloid-> systolic dysfunction –Stiff Heart Syndrome: restrictive filling present & impaired systolic function Deposits may localize to: Deposits may localize to: Conduction tissue: heart block, ventricular arrhythmias Conduction tissue: heart block, ventricular arrhythmias Valves: regurgitation Valves: regurgitation Pericardium: constriction Pericardium: constriction Coronaries: ischemia Coronaries: ischemia –Prognosis poor, median survival two years Diastolic function found to be a stronger predictor of cardiac death than LV wall thickness or systolic function Diastolic function found to be a stronger predictor of cardiac death than LV wall thickness or systolic function Cardiac transplantation not usually performed Cardiac transplantation not usually performed Swanton, RH et al. Systolic and diastolic ventricular function in cardiac amyloidosis. Am J Cardiol 1977; 39:658. Utility of echocardiography in evaluation of individuals with cardiomyopathy. Heart 2004;90

14 Amyloid: 2D Echo features Ventricular cavities may be small, normal, or moderately dilated Ventricular cavities may be small, normal, or moderately dilated Atrial appendage thrombi Atrial appendage thrombi Dilated atria & IVC Dilated atria & IVC Normal or increased wall thickness Normal or increased wall thickness –Prognostic variable Survival range 2.4 yrs if NL(≤12 mm) Survival range 2.4 yrs if NL(≤12 mm) 0.4 yrs if markedly  (  15 mm) 0.4 yrs if markedly  (  15 mm) Variable (but often depressed) systolic function Variable (but often depressed) systolic function Involvement of pericardium, valves, coronaries Involvement of pericardium, valves, coronaries Granular, sparkling appearance is characteristic Granular, sparkling appearance is characteristic Cueto-Garcia L, et al. Echo findings in systemic amyloidosis. JACC 85; 6 Katritsis, D et al. Primary restrictive CM: clinical and pathologic characteristics. JACC 91; 18 BiV hypertrophy, biatrial enlargement, & mild, diffuse valve thickening

15 Myocardial, Infiltrative Sarcoidosis Sarcoidosis –Affects young/middle age adults, no gender prediliction –Noncaseating granulomas in lungs, spleen, lymph nodes, skin, liver, parotid glands, heart –Infiltration of conduction system, LV (upper septum), pulmonary artery – Autopsy : Cardiac involvement in 25%, Clinically: 5% –Cardiac manifestations: restrictive cm->dilated Conduction abnormalities, high-grade AV block, VT Conduction abnormalities, high-grade AV block, VT –Patchy distribution Biopsy sensitivity of 20-30% Biopsy sensitivity of 20-30% –Sudden cardiac death in 17% with extensive cardiac granulomas –Cardiac transplantation may be appropriate for intractable heart failure or arrhythmias Griffin BP; Manual of CV Medicine 2004

16 Sarcoidosis: Echo features Systolic function usually normal initially Systolic function usually normal initially Diffuse HK & focal abnormalities of WM Diffuse HK & focal abnormalities of WM –Basal septum affected, apex spared Pulmonary involvement frequent Pulmonary involvement frequent –Pulmonary hypertension, RHF LV aneurysms LV aneurysms Valvular regurgitation Valvular regurgitation Septum or LV free wall may appear hyperechogenic Septum or LV free wall may appear hyperechogenic Valantine H et al. Sarcoidosis: a pattern of clinical and morphological presentation. Br Heart J 87’ 57 Fahy, J et al. Doppler echo detection in patients with pulmonary sarcoidosis. Chest 96’ 109

17 Myocardial, Infiltrative Gaucher’s Gaucher’s – Most common lysosomal storage disease –Deficiency in beta-glucocerebrocidase enzyme –Accumulation of cerebroside in many organs, usually bm, spleen, liver, brain – More rare : pulmonary & cardiovascular involvement Cerebroside accumulation in interstitium of LV -> restrictive cm Cerebroside accumulation in interstitium of LV -> restrictive cm –Often subclinical Pulmonary hypertension from pulmonary capillary occlusion Pulmonary hypertension from pulmonary capillary occlusion Calcification & thickening of valves, pericardial effusion Calcification & thickening of valves, pericardial effusion Hurler’s Syndrome Hurler’s Syndrome –Mucopolysaccharide accumulation leads to severe skeletal deformities, hepatosplenomegaly, mental retardation –Cardiac involvement evident between 1-5 years of age –Mucopolysaccharide deposition in myocardial interstitium, valves, coronary arteries, aorta

18 Metabolic Storage Diseases Hemochromatosis Hemochromatosis –Five types, AD or AR –Iron deposition in multiple organs (heart, liver, skin, pancreas, pituitary, joints) –Dilated>restrictive cardiomyopathy Systolic dysfunction indicates a poor prognosis Systolic dysfunction indicates a poor prognosis –Conduction disturbances common, e.g., SSS SVT & VT occur in 1/3 of patients SVT & VT occur in 1/3 of patients –Granular or sparkling appearance may be seen on echo Atrial enlargement Atrial enlargement –Treatment with repeated phlebotomy or chelation (desferrioxamine) may reverse LV dysfunction –Cardiac transplantation can be considered Hurst’s The Heart, 10 th edition

19 Fabry Disease (angiokeratoma corporis diffusum, ceramide trihexosidosis, or Anderson-Fabry disease ) – X-linked disorder of glycosphingolipid metabolism Due to deficiency of lysosomal ceramide (  - galactosidase) Due to deficiency of lysosomal ceramide (  - galactosidase) Intracellular accumulation & deposition of glycolipids in heart, skin, kidneys Intracellular accumulation & deposition of glycolipids in heart, skin, kidneys First symptoms manifest by age 10 First symptoms manifest by age 10 –Peripheral neuropathy, hypohidrosis, skin lesions (angiokeratomas), renal dysfunction Nagueh, SF. Fabry disease. Heart 2003; 89:819.

20 Fabry Disease Accumulation occurs in myocardium, vascular, and valvular endothelium Accumulation occurs in myocardium, vascular, and valvular endothelium May develop LVH (concentric) with hypertrophic CM, restrictive CM, or dilated CM May develop LVH (concentric) with hypertrophic CM, restrictive CM, or dilated CM –Conduction abnormalities, AR>MR, premature CAD, aortic root dilation, premature stroke –Cardiac manifestations may not occur until age 30 –Echo findings are similar to amyloid LV mass correlates with disease severity LV mass correlates with disease severity Full expression in males, incomplete in females Full expression in males, incomplete in females Screening for plasma alpha-galactosidase A levels in patients with unexplained concentric LVH should be considered Screening for plasma alpha-galactosidase A levels in patients with unexplained concentric LVH should be considered Recombinant alpha-galactosidase causes regression of cardiac dysfunction Recombinant alpha-galactosidase causes regression of cardiac dysfunction

21 Endomyocardial Diseases Endomyocardial Fibrosis (Davies Disease) –Tropics –10-20% of deaths due to HF in equitorial Africa –Children, young adults –No gender prediliction –Intense endocardial fibrotic thickening of apex & subvalvular regions of ventricle(s)→ obstruction to blood inflow, regurgitation, restrictive physiology – Histology: granulation tissue, collagen, connective tissue lines endocardium –Affects both (50%), left (40%), right (10%) ventricles –Two year mortality up to 50%

22 Endomyocardial Fibrosis: Echo Features Inferobasal LV wall thickening Inferobasal LV wall thickening Endocardial thrombus deposition Endocardial thrombus deposition –Apical obliteration Biventricular involvement in ½ of patients Biventricular involvement in ½ of patients Ventricular cavities vary in size but often obliterated by extensive endocardial thickening Ventricular cavities vary in size but often obliterated by extensive endocardial thickening Large atria Large atria Papillary muscle involvement & AV valve apparatus with valve deformity common Papillary muscle involvement & AV valve apparatus with valve deformity common –Regurgitation>stenosis AF common AF common

23 Endomyocardial Diseases Loeffler’s endocarditis Loeffler’s endocarditis [eosinophilic cardiomyopathy] –Temperate climates –Activated eosinophils may release cardiotoxic intracytoplasmic granules –Middle age, usually men –Intense eosinophilia, nervous system & bone marrow involvement, skin rash, constitutional symtpms –Restrictive cardiac disease (often biventricular), fibrinoid vasculitis of coronaries –Valvular involvement leads to regurgitation or stenosis of AV valves –Thromboembolic phenomena Mural & atrial thrombi Mural & atrial thrombi LV thrombi in absence of WMA LV thrombi in absence of WMA Gradual apical obliteration; apex fills with echogenic mass Gradual apical obliteration; apex fills with echogenic mass Tai PC Lancet 87’; 1; Wood MJ et al; Utility of Echo in the Eval of Ind with CM; Heart 2004; 90 Thrombus deposition in RV/LV apices

24 Endomyocardial Diseases Carcinoid Heart Disease Carcinoid Heart Disease –Late complication of carcinoid syndrome from metastatic carcinoid tumors 50% of patients 50% of patients TR most common finding TR most common finding –Pathognomonic fibrous plaque-like deposits Pulmonary inactivation of serotonin, bradykinin, etc.. Pulmonary inactivation of serotonin, bradykinin, etc.. –LV involvement uncommon If present, likely r->l shunt If present, likely r->l shunt Endocardium of valve cusps/leaflets,cardiac chambers, intima of PA/aorta Endocardium of valve cusps/leaflets,cardiac chambers, intima of PA/aorta Plaques: smooth muscle cells embedded in mucopolysaccharides & collagen Plaques: smooth muscle cells embedded in mucopolysaccharides & collagen –Lack elastic components Pellikka PA et al. Carcinoid heart disease; clinical and echo spectrum in 74 patinets.Circ 93’ 87

25 Carcinoid Syndrome – Echo findings in 2/3 of patients Thickened, retracted, immobile tricuspid & pulmonary valves Thickened, retracted, immobile tricuspid & pulmonary valves RA/RV enlargement RA/RV enlargement RA wall thickening on TEE RA wall thickening on TEE Pulmonary outflow obstruction may occur Pulmonary outflow obstruction may occur TR/PR on doppler TR/PR on doppler Rarely see metastatic tumors to heart Rarely see metastatic tumors to heart – Valvular lesions do not regress with therapy

26 Endomyocardial Diseases Radiation carditis Radiation carditis –Can manifest decades after thoracic radiotherapy –Can involve many cardiac structures Coronary arteries: ostial stenoses Coronary arteries: ostial stenoses Valves: stenosis Valves: stenosis Pericardium: constrictive pericarditis Pericardium: constrictive pericarditis Myocardium, endocardium: Myocardium, endocardium: –Interstitial fibrosis of RV > LV Brosius FC III et al. Radiation heart disease. Am J Med 81’; 70.

27 Endomyocardial Diseases Metastatic cancer (lung, breast, melanoma, leukemia, lymphoma) Metastatic cancer (lung, breast, melanoma, leukemia, lymphoma) Drug toxicity: Drug toxicity: –Anthracylines: dilated CM & endomyocardial fibrosis Risk of restrictive cm markedly increased with concurrent irradiation Risk of restrictive cm markedly increased with concurrent irradiation Diastolic abnormalities do not appear to be dose-related Diastolic abnormalities do not appear to be dose-related Drugs causing endomyocardial fibrosis Drugs causing endomyocardial fibrosis –Methylsergide –Serotonin –Busulfan –Ergotamine –Mercurial agents

28 Doppler Echo findings: Early in Disease Course Impaired diastolic filling Impaired diastolic filling – Doppler of LV inflow Reduced E velocity, increased A velocity Reduced E velocity, increased A velocity Prolonged isovolumic relaxation time Prolonged isovolumic relaxation time Decreased early diastolic deceleration slope Decreased early diastolic deceleration slope – Pulmonary vein inflow Reduced diastolic filling phase Reduced diastolic filling phase Normal systolic filling phase Normal systolic filling phase –Decreased ratio of systolic to diastolic PV flow Zile et al. Circ 02’; 105

29 Pseudonormalization LA pressure rises LA pressure rises –Increased pressure gradient from LA to LV at MV opening – E and A velocities may remain relatively normal Pulmonary venous inflow Pulmonary venous inflow –Systolic filling normal or decreased –Diastolic is normal or increased –Increased resistance to LV filling :  in velocity and duration of atrial flow reversal in lower resistance PV Otto, Textbook of Clinical Echo; 3 rd edition

30 Advanced Restrictive Pattern Ventricular compliance continues to decrease Ventricular compliance continues to decrease Increased mitral early diastolic filling velocity ( E ) [> 1m/s] Increased mitral early diastolic filling velocity ( E ) [> 1m/s] –Deceleration slope becomes more rapid A velocity reduced due to increased LVEDP & reduced atrial contractile function [<.5 m/s] A velocity reduced due to increased LVEDP & reduced atrial contractile function [<.5 m/s] Increased E:A ratio (>2) Increased E:A ratio (>2) Mitral deceleration time shortens (<150 ms) Mitral deceleration time shortens (<150 ms) Isovolumic relaxation time shortens [  70 ms] Isovolumic relaxation time shortens [  70 ms] PV flow shows increased diastolic phase, reduced systolic phase & Pva increases further in duration & velocity PV flow shows increased diastolic phase, reduced systolic phase & Pva increases further in duration & velocity E/A 2.4 E/A 2.4

31 Myocardial Tissue Doppler Signals Displays the velocities of the myocardium during contraction and relaxation Displays the velocities of the myocardium during contraction and relaxation Can assist in assessment and grading of diastolic function Can assist in assessment and grading of diastolic function – Sm: myocardial velocity during systole – Em: myocardial velocity during early filling – Am: myocardial velocity during filling due to atrial contraction In restrictive pattern, Em is diminutive In restrictive pattern, Em is diminutive Helpful in differentiating constriction from restriction Helpful in differentiating constriction from restriction

32 Cardiac MR Can aid in distinguishing between the cardiomyopathies Can aid in distinguishing between the cardiomyopathies –Hemochromatosis produces low signal intensity due to iron deposition –May differentiate primary restrictive CM from amyloidosis based on tissue characterization –May detect mass lesions due to sarcoid granuloma or scar Can aid in differentiating constrictive from restrictive disease Can aid in differentiating constrictive from restrictive disease Celetti et al, AJC 99’ 83

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