Cardiomyopathies
Jorge Betancor
Craig R. Asher
1. Which statement regarding idiopathic dilated cardiomyopathy is correct?
A. Segmental wall motion abnormalities are uncommon.
B. Right atrial (RA) and right ventricular (RV) dilation are uncommon.
C. Improvement in sphericity index in response to dobutamine is a predictor of late recovery of left ventricular (LV) systolic function.
D. Increased LV mass is a predictor of worse outcome.
View Answer
1. Answer: C. Improvement in LV sphericity index in response to dobutamine is a predictor of late recovery of LV systolic function in idiopathic dilated cardiomyopathy. The sphericity index is usually calculated as the ratio of the short-axis length (midventricular width) to the LV long-axis length (apex to mid portion of the mitral annulus) and represents the extent of chamber remodeling from a normal elliptical ventricular shape to an abnormal spherical shape. It can be determined in end-diastole and end-systole. More spherically shaped ventricles are associated with a worse prognosis and therefore a less spherical ventricle with dobutamine predicts a greater likelihood of reverse remodeling. Biatrial and biventricular chamber dilation is common in idiopathic dilated cardiomyopathy. Segmental wall motion abnormalities are also common and predict a more favorable prognosis than global hypokinesis. Similarly, an increase in LV mass is a favorable prognostic variable and predicts a greater likelihood of improvement in LV systolic function.
2. A 48-year-old woman presents to the emergency room complaining of shortness of breath and recurrent palpitations. The initial electrocardiogram (EKG) shows atrial flutter at a rate of 150 bpm with 2:1 atrioventricular (AV) conduction. A transthoracic echocardiogram (TTE) is performed and it reveals 4-chamber dilation with severe biventricular systolic dysfunction. Which of the following statements regarding this patient’s cardiomyopathy is correct?
A. It is most likely irreversible.
B. Successful cardioversion to sinus rhythm will usually improve LV systolic function to normal in days.
C. The presence of moderate to severe mitral regurgitation suggests that the cardiomyopathy is due to valvular heart disease.
D. If recovery of LV function occurs after successful cardioversion, a recurrent episode of atrial flutter will likely not be well tolerated.
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2. Answer: D. If recovery of LV function occurs after successful cardioversion, a recurrent episode of atrial flutter will likely not be well tolerated. The patient has a tachycardia-induced cardiomyopathy. It is an under-recognized, reversible form of cardiomyopathy that occurs secondary to rapid heart rates for prolonged periods of time and may be due to most supraventricular or ventricular tachyarrhythmias. Tachycardia-induced cardiomyopathy should be diagnosed only when other forms of structural heart disease are excluded. The presence of moderate to severe mitral regurgitation without structural abnormalities of the mitral valve does not support a valvular cardiomyopathy, but rather is likely functional due to LV dilation. The prognosis for tachycardia-induced cardiomyopathy is generally good with most patients recovering normal function over time. However, the time course of recovery may be unpredictable often taking months to years and correlating with the duration and rate of tachycardia. Among patients who have recovered normal function after restoration of a normal rhythm, a recurrent arrhythmia has been reported to cause rapid decline in LV function. This is thought to be due to persistence of structural abnormalities of the LV.
3. Which of the following statements about peripartum cardiomyopathy is correct?
A. If the LV ejection fraction (EF) normalizes after the initial cardiomyopathy episode, it is unlikely that there will be a recurrence of LV systolic dysfunction in subsequent pregnancies.
B. Up to 25% of patients have marked improvement in LV systolic function and clinical symptoms after the initial episode.
C. Most women present with symptoms and echocardiographic abnormalities between months 3 and 6 postpartum.
D. Marked inotropic contractile reserve measured during dobutamine stress echocardiography may serve as a predictor of the likelihood of recurrence of LV systolic dysfunction with subsequent pregnancy.
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3. Answer: D. Marked inotropic contractile reserve measured during dobutamine stress echocardiography may serve as a predictor of the likelihood of recurrence of LV systolic dysfunction with subsequent pregnancy. Peripartum cardiomyopathy is characterized by the development of heart failure symptoms (with an LVEF <45%) during the last month of pregnancy or during the first 5 months postpartum, in the absence of any other identifiable cause of heart failure. Up to 50% of patients fully recover with normalization of LVEF and resolution of symptoms. For women having a recurrent pregnancy despite persistent cardiomyopathy, the risks of mortality and heart failure are high. There is also a significant risk of relapse in women with normalization of LVEF. In small series of patients who have recovered from peripartum cardiomyopathy, dobutamine stress echocardiography has demonstrated to be a useful tool to predict the safety of a recurrent pregnancy. Those women who have recovery of LVEF to normal and maintain normal contractile reserve with dobutamine have a lower risk of recurrence of peripartum cardiomyopathy.
4. A 49-year-old man with a history of pulmonary sarcoidosis is seen in clinic for evaluation of syncopal episodes. As part of the evaluation, he had a 12-lead EKG that revealed complete AV block. Which of the following findings on TTE is most specific for the diagnosis of cardiac involvement?
A. Severely increased wall thickness.
B. Stage 2 or 3 diastolic dysfunction.
C. Thinning of the basal anterior septal wall.
D. Pulmonary hypertension.
E. Pericardial effusion.
View Answer
4. Answer: C. Thinning of the basal anterior septal wall. Guidelines for the histologic and clinical diagnosis of cardiac sarcoidosis are available. Among the major clinical criteria are thinning of the basal ventricular septum and LVEF <50%. Although commonly present, diastolic dysfunction, pulmonary hypertension, and the presence of pericardial effusion are nonspecific findings. Severely increased wall thickness is a rare finding with cardiac sarcoidosis. Additional more specific criteria include a dilated cardiomyopathy with noncoronary territory wall motion abnormalities and aneurysms involving the posterior, lateral basal wall and apex (see Table 22-1).
Table 22-1. Echocardiographic Findings of Cardiac Sarcoidosis | |||||||||||
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5. A 52-year-old man presents for a 3-month follow-up echocardiogram after chemotherapy for lymphoma with an anthracycline-based regimen. He is asymptomatic and clinically appears well. At baseline, his LVEF was 68% with a speckle-tracking echocardiogram (STE) peak global longitudinal strain (GLS) of -25%. On follow-up echocardiogram his LVEF is 57% and GLS is -20%. Which of the following statements is correct?
A. There is evidence of cardiotoxicity based on a reduction in LVEF.
B. There is no evidence of cardiotoxicity.
C. There is evidence of cardiotoxicity based on a 20% reduction in GLS.
D. It is uncertain whether there is cardiotoxicity and a repeat echocardiogram should be done in 3 months.
View Answer
5. Answer: B. There is no evidence of cardiotoxicity. Anthracycline-based chemotherapeutic agents are used to treat several forms of malignancy, but are associated with acute and chronic cardiotoxicity. The current definition of cardiotoxicity proposed by the ASE expert consensus group is >10 percentage points reduction in LVEF to an LVEF <53%. A confirmatory study to assess LVEF should be repeated 2-3 weeks later, not 3 months later. Although this patient had a drop in LVEF of 11% points, it did not drop below 53%, and therefore it is not consistent with cardiotoxicity.
The prognosis of patients that develop doxorubicin cardiotoxicity is generally poor and usually irreversible. Therefore, there have been efforts to predict which patients are at risk, to reduce or discontinue chemotherapy when early signs of myocardial dysfunction are present. Given that measurement of LVEF is often variable, and LV dysfunction may be a late occurrence when recovery is no longer possible, alternative techniques have evolved. Echocardiographic predictors of early-onset chemotherapy-induced cardiomyopathy have emerged. Global longitudinal strain (GLS) measured currently by speckle-tracking echocardiography has been found to be the most sensitive predictor of subclinical LV dysfunction. A cutoff value of >15% relative reduction in GLS is considered abnormal and thus the 20% drop in this patient may predict a true drop in LVEF. However, the definition of cardiotoxicity related to chemotherapeutic agents is still based solely on a reduction in LVEF, not GLS.
6. Which echocardiographic parameter is consistent with hypertensive left ventricular hypertrophy (LVH) rather than physiologic hypertrophy of athlete’s heart?
A. Relative wall thickness (RWT) >0.42.
B. RV dilation
C. Increased left atrial (LA) volume.
D. Increased LV mass.
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6. Answer: A. RWT >0.42 is consistent with pathologic LVH. RWT is determined as 2× the posterior wall thickness (or interventricular + posterior wall thickness)/left ventricular internal dimension in diastole. A ratio >0.42 suggests concentric remodeling (if LV mass is normal) or concentric hypertrophy (if LV mass is increased) and is not consistent with athlete’s heart. An increase in LA volume and LV mass may occur with both athlete’s heart and hypertensive LVH. RV dilation is usually not present with hypertensive LVH but is common with athlete’s heart. Several other parameters of systolic and diastolic function may help to differentiate these conditions including tissue Doppler, strain, and strain rate. All of these variables should be normal in athlete’s heart but may be abnormal with pathologic forms of LVH.
7. A 47-year-old woman underwent chemotherapy and radiation for Hodgkin lymphoma 20 years previously. Which of the following echocardiographic findings are most specific for radiation heart disease?
A. Aorto-mitral curtain thickening or calcification.
B. Pericardial thickening/pericardial effusion.
C. Severe aortic regurgitation.
D. Ascending aorta calcification.
View Answer
7. Answer: A. Aorto-mitral curtain thickening or calcification. Radiation-associated heart disease is a consequence of radiation treatment for various mediastinal or thoracic cancers, most commonly breast cancer and lymphoma. It often does not manifest for 15-20 years after radiation. Cardiac involvement includes coronary artery stenosis, valvular, myocardial, pericardial, aortic, and conduction disease. Since it involves the myocardium, it is often considered a form of acquired endomyocardial restrictive cardiomyopathy. Valvular disease typically involves the aortic and mitral valves with mitral regurgitation being the most common reason for surgery. Aorto-mitral curtain thickening or calcification (junction between the base of the anterior mitral leaflet and the aortic root) is a specific finding suggesting radiation-associated disease. Typically this region is spared from most degenerative or acquired conditions, with the exception of endocarditis or aortitis. When thickening or calcification of the aorto-mitral curtain is seen in conjunction with aortic or mitral valve disease, it is highly suggestive of radiation-associated disease. An additional finding of radiation-associated disease is calcification of the aortic sinuses, which is an atypical location for atherosclerosis.
8. Which of the following statements regarding the prediction of sudden cardiac death (SCD) in patients with hypertrophic cardiomyopathy (HCM) is correct?
A. Increased LV cavity size is associated with lower risk.
B. Nonobstructive forms are associated with higher risk than obstructive forms.
C. Apical aneurysms are associated with lower risk.
D. Increased wall thickness is associated with higher risk only if left ventricular wall thickness is >3 cm.
E. A restrictive filling pattern is associated with a higher risk.
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8. Answer: E. A restrictive filling pattern is associated with a higher risk. Several phenotypic and functional features of HCM are associated with an increased risk of SCD (see Table 22-2). Phenotypic features include the degree of wall thickness, left atrial volume, presence of apical aneurysms, and the dilated-hypokinetic (end-stage or burned-out stage of HCM). Although a wall thickness of >3 cm is considered an indication for an implantable defibrillator, increasing wall thickness appears to be associated with a continuous increase in risk. Functional features of HCM associated with risk of SCD include a restrictive filling pattern (seen in only about 1%-2% of patients) and the degree of LVOT obstruction. Comparative studies by Maron et al. demonstrated that LVOT obstruction (>30 mm Hg) was associated with a higher incidence of SCD, HCM-related death or death from any cause, progression to NYHA class 3 or 4, or death from heart failure or stroke, compared to nonobstructors.
Table 22-2. Echocardiographic Features of HCM Associated with Increased Risk of SCD | ||||||
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9. Which of the following statements best describes the most typical echocardiographic appearance of hereditary hemochromatosis?
A. Nondilated LV cavity with severe increased wall thickness.
B. Restrictive diastolic filling pattern with normal LV wall thickness.
C. Mildly dilated LV cavity with global LV dysfunction and normal or mildly increased LV wall thickness.
D. Severely dilated LV cavity with regional LV dysfunction and severely increased LV wall thickness.
View Answer
9. Answer: C. Mildly dilated LV cavity with global LV dysfunction and normal or mildly increased LV wall thickness. Hemochromatosis is a form of iron storage disease with deposition in various organs including the myocardial cells of the heart. It may be hereditary (primary) or acquired. By the American Heart Association (AHA) classification of cardiomyopathies, it is characterized as a secondary cardiomyopathy since it is part of a systemic disease (see Table 22-3 and Fig. 22-22). Since it is not an infiltrative disorder, wall thickness is generally not significantly increased. The atria, ventricles, and AV conduction system may be involved. Supraventricular arrhythmias are common.
Cardiac involvement in hereditary hemochromatosis evolves through a progression of structural and functional abnormalities. In the early stages, diastolic dysfunction, including tissue Doppler abnormalities may be the first manifestation, despite normal LV size, wall thickness, and systolic function. As the disease progresses there is a decrease in LV systolic function, LV cavity dilation, and biatrial enlargement. LV wall thickness is usually normal or mildly increased even in the later stages. A restrictive filling pattern is a late manifestation of the condition when there is LV dysfunction. Identification of cardiac hemochromatosis is important since treatment with chelating agents or phlebotomy may improve cardiac function.
Table 22-3. AHA Classification of Secondary Cardiomyopathies | ||
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 Figure 22-22. Predominantly nongenetic; familial disease with a genetic origin has been reported in a minority of cases. From Maron BJ, Towbin JA, Thiene G, et al. Contemporary Definitions and Classification of the Cardiomyopathies. An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113:1807-1816. |
10. Based on echocardiographic criteria, which asymptomatic athlete should be allowed to participate in competitive sports without further testing?
A. A 20-year-old American football player with an LVEF = 65%, LVIDd = 5.3 cm, septal wall thickness 1.6 cm, posterior wall thickness 1.2 cm, and lateral mitral annular e′ 6 cm/s.
B. A 21-year-old-male basketball player with LVIDd = 5.9 cm, LVISd = 3.6 cm, LVEF = 60%, septal wall thickness 1.3 cm, posterior wall thickness 1.3 cm, left atrial volume 37 mL/m2, and lateral mitral annular e′ 18 cm/s.
C. A 26-year-old-male soccer player with LVEF = 55%, LVIDd = 5.2 cm, right ventricular outflow tract measurement (parasternal short-axis) in diastole 3.6 cm.
D. A 24-year-old-male basketball player with LVEF = 60%, LVIDd = 5.3 cm, mitral valve prolapse with moderate MR, aortic diameter at the sinuses of Valsalva 4.3 cm, at the ST junction 4.1 cm, and mid-ascending aorta 3.8 cm.
View Answer
10. Answer: B. The 21-year-old-male basketball player has echocardiographic findings that are all consistent with athlete’s heart (see Table 22-4). In athlete’s heart, there is usually an increase in LV cavity size (uncommonly beyond 6.0 cm) and in a small group of athletes there may be a symmetric increase in LV wall thickness (between 1.3 and 1.5 cm—“the gray zone”). There is normal LV systolic and diastolic function. Mild atrial enlargement can be seen. Choice (A) is consistent with HCM with a septal wall thickness outside of the gray zone, asymmetric hypertrophy, and normal LV cavity size with a reduced tissue Doppler annular velocity. Choice (C) is suggestive of arrhythmogenic RV dysplasia due to RVOT dilation (normal size RVOT in the parasternal short-axis view is <3.6 cm). Choice (D) is suggestive of Marfan syndrome due to the presence of aortic root dilation and mitral valve prolapse.
Table 22-4. Typical Echocardiographic Features of Athlete’s Heart versus Hypertrophic Cardiomyopathy in Males | ||||||||||||||||||||||||||||||||||||||||||
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11. Which of the following are the most specific echocardiographic features of Chagas cardiomyopathy?
A. Restrictive filling pattern with normal LV systolic function.
B. Increased biventricular wall thickness with normal LV systolic function.
C. Dilated LV cavity with thinning of the basal septum and LV dysfunction.
D. Normal LV cavity size with an apical aneurysm and LV thrombus.
View Answer
11. Answer: D. Normal LV cavity size with an apical aneurysm and LV thrombus. Chagas disease is an endemic infection in Latin American countries, of Trypanosoma cruzi, spread by the reduviid bug. The cardiac manifestations include an acute and chronic form of myocarditis. In most cases, the acute infection is unrecognized and the chronic condition appears years to decades later. In the chronic stage, segmental wall motion abnormalities may occur involving the infero-lateral walls. Diastolic dysfunction may be an early manifestation. The most classic appearance of Chagas myocarditis is LV apical aneurysms with or without thrombus. RV aneurysms or biventricular aneurysms have also been reported. The presence of LV dysfunction depends on the stage of the disease and the degree of heart failure. In asymptomatic patients with normal electrocardiograms, LV function is generally preserved. However, in symptomatic patients with abnormal electrocardiograms, segmental wall motion abnormalities, apical aneurysms, and LV dysfunction are usually present. Typical electrocardiographic findings in Chagas myocarditis include right bundle branch block, left anterior hemiblock, AV block, and multifocal premature beats.
12. A 32-year-old man presents to the Emergency Room with angina. Pertinent findings on physical examination include an S4 gallop. As part of his cardiac evaluation a transthoracic echocardiogram is performed. It shows an apical thickness of 19 mm, interventricular septal thickness of 11 mm, and posterior wall thickness of 10 mm. Which of the following associated findings is most likely to be found in this patient?
A. Normal left atrial volume.
B. Left ventricular outflow tract (LVOT) peak velocity by continuous-wave Doppler of 3 m/s after amyl nitrite administration.
C. Systolic anterior motion of the mitral valve.
D. Normal LV cavity linear dimension in diastole.
View Answer
12. Answer: D. Normal LV cavity linear dimension in diastole. This patient presents with features consistent with apical HCM. Apical HCM is defined as an LV apex >15 mm, with apical to posterior wall thickness ratio >1.5, in the absence of other etiologies of LVH. Apical HCM can be either isolated (normal wall thickness except the apex) or mixed (increased wall thickness of nonapical segments, especially the septum). In isolated apical HCM, systolic anterior motion of the mitral valve or LV outflow obstruction either at rest or after provocative maneuvers does not occur. Left ventricular cavity linear dimension in diastole is usually normal although LV cavity volume may be reduced. LV systolic function is usually normal. LA volume is typically increased and diastolic function is abnormal. Apical outpouchings or apical aneurysms may occur in patients with apical HCM and should be carefully sought after because of the associated increased risk of SCD.
13. Which of the following echocardiographic findings are consistent with isolated LV noncompaction cardiomyopathy?
A. Three layers of myocardium should be identifiable (endocardial, myocardial, and epicardial).
B. The ratio of the noncompacted to compacted layers should be >1.5:1.
C. Deep recesses filled with blood from the LV cavity should be seen by contrast echocardiography or color Doppler.
D. The most commonly affected regions are the midventricular lateral, inferior, and anterior walls.
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13. Answer: C. Deep recesses filled with blood from the LV ventricular cavity should be seen by contrast echocardiography or color Doppler. Isolated LV noncompaction cardiomyopathy occurs when no associated congenital abnormalities are present. It is classified as a primary genetic cardiomyopathy according to the AHA proposed classification scheme. It results from a failure of the normal embryologic process of compaction of myocardial fibers in the endocardial layer.
Various echocardiographic and cardiac MRI criteria have been proposed. Criteria proposed by Oechslin for isolated LV noncompaction include: (1) two-layered myocardium with a thin compacted epicardial and thick noncompacted endocardial layer; (2) the ratio of the noncompacted to compacted layer is ≥2 in end-systole; (3) there is a prominent network of trabeculations in the noncompacted layer; (4) there are deep recesses present that fill with blood from the LV cavity as seen by color Doppler (or contrast echocardiography) in the noncompacted layer, but do not communicate with the coronary circulation (this distinguishes recesses from sinusoids); and (5) the segmental distribution of noncompacted segments is most often in the apex or midventricular inferior and lateral walls. Of note, cardiac MRI criteria differ slightly using a ratio of noncompacted to compacted layers of 2.3, in diastole rather than systole.
14. Which of the following measures of diastolic function is most likely found in a patient with restrictive cardiomyopathy?
A. Color M-mode propagation velocity (Vp) = 70 cm/s.
B. Peak mitral inflow early diastolic filling velocity = 120 cm/s; tissue Doppler e′ lateral velocity = 6 cm/s.
C. Mitral inflow E deceleration time = 165 ms.
D. Pulmonary vein Doppler systolic velocity = 40 cm/s; diastolic velocity = 50 cm/s.
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14. Answer: B. Peak mitral inflow early diastolic filling velocity = 120 cm/s; tissue Doppler e’ lateral velocity = 6 cm/s. In restrictive cardiomyopathy, diastolic dysfunction is usually advanced. The left atrial or left ventricular end-diastolic pressure is usually elevated. LV size and systolic function are normal. Choice (B) describes a patient with a high mitral E wave velocity, a decreased mitral annular tissue Doppler velocity, and an E/e’ ratio of 20 suggestive of elevated LV filling pressure. In restrictive cardiomyopathy, color M-mode velocities would be expected to be delayed (propagation velocity, Vp <50 cm/s), with pulmonary vein systolic to diastolic velocity ratio of <0.5 and a deceleration time <160 ms. Other expected findings include LA volume index >34 mL/m2, and E/a ratio >2.
15. Which of the following is the most important echocardiographic predictor of mortality in primary amyloidosis (AL) with cardiac involvement?
A. Increased LV end-diastolic dimension.
B. Increased LV wall thickness.
C. Presence of a pericardial effusion.
D. Intensity of speckled myocardial appearance.
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15. Answer: B. Increased LV wall thickness. Amyloid cardiomyopathy is the most common infiltrative cardiomyopathy. There is deposition of fibrils of various precursor proteins, which lead to a restrictive cardiomyopathy. A direct relationship between LV wall thickness >15 mm and heart failure and mortality has been established. Numerous diastolic parameters have been associated with a worse survival including a short mitral deceleration time (<150 ms), and increased E/a and E/e’ ratio, increased LA volume, and an abnormal Tei index. Other prognostic echocardiographic variables include LV and RV dysfunction, RV enlargement, pulmonary hypertension, and a reduction in strain (less negative). LV cavity size usually remains normal and does not give significant prognostic information. The finding of a pericardial effusion is common and is usually not clinically significant. However, the presence of a pleural effusion has been demonstrated to have independent prognostic information. One of the distinguishing features of cardiac amyloid infiltration is the increased echogenicity and “speckled” appearance of the LV wall on two-dimensional echocardiography. However, this finding does not offer specific prognostic information.
16. A 45-year-old man with recurrent diastolic heart failure and systemic symptoms including fever and night sweats underwent a TTE. Based on the following image, Figure 22-1, which of the following statements about this patient’s condition is correct?
A. RV involvement is common.
B. Mitral regurgitation is uncommon.
C. Left atrial pressure is usually normal.
D. LV thrombus is uncommon.
 Figure 22-1 |
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16. Answer: A. RV involvement is common. The patient has hypereosinophilic syndrome. This is a form of restrictive cardiomyopathy with endomyocardial involvement due to hypereosinophilia. Other conditions affecting the heart include radiation, allergic or infectious reactions, neoplasms and Churg-Strauss syndrome. There are three stages of disease due to toxic endomyocardial damage: (1) necrotic, (2) thrombotic, and (3) fibrotic. If treated prior to the fibrotic stage, reversibility may occur. Echocardiographic findings include obliteration of the LV and RV apex with thrombus/fibrosis, normal or small LV and RV cavity size, mitral and tricuspid regurgitation due to papillary muscles involvement, biatrial enlargement, and elevated right- and left-sided filling pressures with restrictive filling pattern. Diastolic function analysis is in contrast to constrictive pericarditis, with little change in respiratory variability and prominent diastolic reversal in the hepatic veins in inspiration. LV size and function are usually preserved. Additional findings include Merlon sign which describes the hypercontractile basal segment in contrast to the hypokinetic apical segment.
17. A 44-year-old man presents for evaluation of worsening dyspnea and palpitations. He has a family history of sudden cardiac death. A resting echo and stress echocardiogram is performed and is shown below, Figure 22-2A and B. LVEF is 65%. Which of the following parameters would
suggest that enzyme replacement therapy may be beneficial in this patient?
suggest that enzyme replacement therapy may be beneficial in this patient?
A. Exercise-induced LVOT obstruction.
B. Severe asymmetric septal wall thickness.
C. Stage 2 diastolic dysfunction.
D. Thinning of the basal inferolateral wall.
 Figure 22-2A |
 Figure 22-2B |
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17. Answer: D. Thinning of the basal inferolateral wall. This echocardiogram is from a patient diagnosed with Fabry’s cardiomyopathy (CM). Fabry’s disease is an X-linked lysosomal enzyme deficiency (alphagalactosidase A) that results in progressive intracellular glycosphingolipid accumulation affecting several organs including the heart. Fabry’s CM can be misdiagnosed as HCM. Characteristic features of cardiac involvement include left ventricular hypertrophy, preserved LV systolic function, normal LV dimensions, impaired diastolic function, and mitral regurgitation. Although, asymmetric hypertrophy may occur, Fabry’s CM generally has a symmetric pattern. Systolic anterior motion of the mitral valve (SAM) and LVOT obstruction occur, but are not common. Specific features of Fabry’s CM not typical of HCM are lacking. A binary appearance of the layers of LV wall was described as a specific feature of Fabry’s CM, although subsequent studies did not confirm this finding. There does seem to be a predilection for involvement of the basal inferolateral wall resulting in fibrosis and subsequent thinning. However, this is a late sign by echocardiography and is more likely to be detected on cardiac MRI with delayed enhancement. Distinction of Fabry’s CM is very important since enzyme replacement therapy, if initiated early enough in the disease course, has proven to improve cardiac function.
18. A 27-year-old man presents to clinic for a cardiac evaluation due to a family history of cardiomyopathy (CM). He is asymptomatic and an EKG is normal. An outside echocardiogram was done and reported as normal. Findings include an interventricular and posterior wall thickness, both of 1.0 cm; LVIDd = 5.0 cm and normal diastolic function.
The following image, Figure 22-3 is obtained from the study. Which of the following conclusions can be made?
A. Findings rule out HCM.
B. Findings are suggestive of HCM.
C. Data are insufficient to make conclusions.
 Figure 22-3 |
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18. Answer: B. Findings are suggestive of HCM. There is a crypt in the basal segment of the inferior wall. Crypts have been defined by cardiac MRI. Although there is not full agreement on a definition, they are usually characterized as blood-filled invaginations in the myocardium, extending at least 50% toward the epicardium as seen in end-diastole. Crypts are usually located in the basal segments of the inferoseptal or infero-lateral wall. They may be single or multiple in number and disappear during systole. They are important since they have been reported to have a high prevalence in genotype (+), phenotype (-) individuals with HCM. However, crypts are also seen in patients without HCM, particularly in those with chronic hypertension. Therefore, given the clinical history of a family member with CM, it is likely that this patient would test positive for HCM. Notably, crypts have been observed to disappear when hypertrophy develops. Figure 22-23, the arrow points to the crypt.
 Figure 22-23 |
19. A 38-year-old man presents to the emergency room following an episode of syncope preceded by palpitations. The patient denies chest pain or previous syncopal episodes. Telemetry monitoring reveals frequent premature ventricular contractions, but no arrhythmias. EKG reveals T wave inversion in V2 and V3. A TTE is performed. Figure 22-4 (systolic frame) is obtained.
Which of the following statements about this patient’s condition is correct?
A. Associated LV dilated cardiomyopathy is common.
B. Isolated RVOT dilation is a diagnostic feature.
C. Pulmonary hypertension is common.
D. Inferior vena cava plethora is common.
 Figure 22-4 |
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19. Answer: B. Isolated RVOT dilation is a diagnostic feature. The clinical and echocardiographic findings are consistent with RV cardiomyopathy (or ARVD), which is a myocardial disease characterized by fibrofatty ventricular replacement, ventricular arrhythmias, and the risk of SCD. The echocardiogram shows an aneurysm of the apex of the RV, in the region of the “Triangle of Dysplasia.” Diagnostic findings of RV cardiomyopathy seen on echocardiography are noted in Table 22-5. Modified task force criteria for the diagnosis of RV cardiomyopathy were proposed in 2010. Major criteria applicable to echocardiography include: (1) RV akinesia, dyskinesis, or aneurysm, (2) parasternal long-axis or short-axis RVOT dilatation, or (3) reduced RV fractional area change (≤33%). Minor criteria include: (1) RV akinesis or dyskinesis, (2) parasternal longaxis or short-axis RVOT dilatation, and (3) reduced RV fractional area change (>33% to ≤40%). RV cardiomyopathy presenting as a dilated LV cardiomyopathy is well described, but not common.
Table 22-5. Echocardiographic Features of RV Cardiomyopathy | ||
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20. A 44-year-old woman with HCM presents for evaluation due to dyspnea on exertion. Based on the Doppler findings (Fig. 22-5A, pulsed-wave Doppler and Fig. 22-5B, continuous-wave Doppler), which of the following statements is correct?
A. LV function is reduced and symptoms are due to systolic heart failure.
B. LV function is hyperdynamic and symptoms are due to diastolic dysfunction.
C. LV function is hyperdynamic and symptoms are due to LVOT obstruction.
D. No conclusions can be made based on this information.
 Figure 22-5A |
 Figure 22-5B |
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20. Answer: B. LV function is hyperdynamic and symptoms are due to diastolic dysfunction. The pulsedwave Doppler pattern, Figure 22-5A, shows stage 1 diastolic dysfunction or impaired relaxation. The continuous-wave Doppler, shows three distinct waves in diastole. The first prominent wave (Fig. 22-24, white arrow) is intraventricular flow seen during the isovolumic relaxation period (IVRP), followed by a low-velocity early-diastolic (white dashed arrow) and higher-velocity late-diastolic flow during atrial contraction (yellow arrow). Intraventricular flow seen during the IVRP is associated with normal or hyperdynamic systolic function in HCM, usually with cavity obliteration in the basal or midcavity at the level of the papillary muscles. The mechanism of this phenomenon is thought to be due to asynchronous relaxation of the midwall segments in the area of cavity obliteration.
 Figure 22-24 |
21. A 47-year-old man with CHF and a family history of cardiomyopathy presents for evaluation. EKG shows low voltage. Which of the following statements is correct about this condition, Figure 22-6A and B?
A. Cardiac involvement is common in all subtypes of this condition.
B. Congestive heart failure is the most common initial clinical presentation in secondary or AA subtype.
C. There is deposition of immunoglobulin light chains in all subtypes of this condition.
D. SSA or senile subtype has a more favorable prognosis than the AL subtype.
 Figure 22-6A |
 Figure 22-6B |
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21. Answer: D. SSA or senile subtype has a more favorable prognosis than the AL subtype. This echocardiogram is from a patient with familial (TTR) amyloidosis. There are several subtypes of amyloidosis, which differ in the types of proteins that are deposited in affected organs, degree of cardiac involvement, and prognosis. Table 22-6 illustrates their similarities and differences.
Cardiac involvement is common in the AL subtype and prognosis is usually poor. Secondary or AA subtype, is characterized by tissue deposition of protein A, and rarely has cardiac involvement leading to CHF. Familial or TTR amyloidosis is an autosomal dominant disorder with frequent cardiac involvement. The SSA or senile systemic amyloidosis can be found commonly in patients over the age of 80 years and usually has a fair or good prognosis, but is manifested by recurrent heart failure symptoms.
Table 22-6. Common Subtypes and Presentations of Amyloidosis | ||||||||||||||||||||||||||||||||||||
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22. A 67-year-old man with a history of AV and biventricular pacing for severe LV dysfunction associated with prior myocardial infarctions presents with recurrent CHF? Which of the following management options do you recommend? Figure 22-7A, B and C.
A. Consideration for mitral valve repair or replacement.
B. Diuresis only.
C. Diuresis and shortening the AV delay.
View Answer
22. Answer: C. Diuresis and shortening the AV delay. The patient has severe LV cavity dilation (end-diastolic volume 471 mL) and severe LV dysfunction (LVEF = 20% by the method of discs). Given the marked LV cavity dilation and dysfunction, the mitral inflow pattern can be assumed to be a stage 2 pattern with elevation of the left atrial pressure. However, the important finding is seen on continuous-wave Doppler (Fig. 22-25, white arrow) which shows diastolic mitral regurgitation (MR). Diastolic MR may occur during AV pacing when the AV delay is too long. Atrial contraction is completed before the onset of ventricular contraction and therefore the mitral valve remains open but with a left ventricular pressure that is higher than the left atrial pressure. Diastolic MR contributes to symptoms, both of which may improve with shortening the AV delay.
 Figure 22-25 |
23. A 74-year-old man presents with dyspnea on exertion and presyncope. Which of the following diagnoses is most likely based on the images shown? Figure 22-8A (pulsed-wave Doppler) and Figure 22-8B (speckle-tracking GLS polar plot).
A. Subaortic membrane and LV hypertrophy.
B. Cardiac amyloidosis with LVOT obstruction.
C. Hypertrophic cardiomyopathy with LVOT obstruction.
D. Hypertrophic cardiomyopathy without LVOT obstruction.
 Figure 22-8A |
 Figure 22-8B |
View Answer
23. Answer: C. Hypertrophic cardiomyopathy with LVOT obstruction. The patient has asymmetric septal hypertrophy with dynamic LVOT obstruction. The pulsed-wave Doppler pattern shows the “lobster claw pattern” with a midsystolic dip in velocity as depicted by the white arrow (Fig. 22-26). The sample volume is placed just apical to the point of LVOT obstruction due to systolic anterior motion (SAM) of the mitral valve. There is an initial high velocity followed by a midsystolic drop in velocity during SAM-septal contact when the aortic afterload exceeds the LV contractility. This finding is consistent with LVOT obstruction usually with peak gradients >60 mm Hg.
The speckle-tracking peak longitudinal strain polar plot shown in Figure 22-8B shows a regional, predominantly septal reduction in GLS. This pattern is consistent with asymmetric septal hypertrophy due to HCM. It is not consistent with cardiac amyloidosis, which has a characteristic apical sparing strain pattern.
 Figure 22-26 |
24. A 54-year-old woman with shortness of breath of unknown etiology presents for a TTE. Which of the following statements regarding the image, Figure 22-9A and B (systolic frames) is correct?
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