Cardiac amyloidosis echocardiography

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]: Aarti Narayan, M.B.B.S [3]; Cafer Zorkun, M.D., Ph.D. [4]

Overview

Transthoracic echocardiography is often the first imaging study chosen among patients presenting with heart failure and is most commonly used in the initial evaluation of cardiac amyloidosis (CA). The hallmark of CA on echocardiogram is the thickening of the left ventricle (LV). Cardiac involvement in amyloidosis usually occurs with >12 mm thickness of the left ventricular wall [1]. Increased ventricular wall thickness, left atrial enlargement, and preserved or reduced systolic function are other findings that might be present with CA and may be correlated with clinical congestive heart failure [2]. However, these findings may be present in other disorders with increased afterload, such as aortic stenosis, hypertrophic cardiomyopathy, hypertensive heart disease, renal disease, and Fabry’s disease. The typical echocardiographic appearance of CA is most prominent in advanced disease, while it is insufficient to precisely distinguish amyloid from non-amyloid or hypertrophic heart diseases in the early stages of the disease. Nevertheless, it is an essential and useful test for the diagnosis of the CA when it has a good quality. Echocardiography also provides important measures for the assessment of diastolic function and LV filling pressure. In CA, diastolic parameters tend to be markedly abnormal because of the stiffening of the myocardium due to amyloid infiltration.


Nevertheless, echocardiographic findings strongly correlate with the degree of cardiac dysfunction and disease progression with mildly or moderately increased wall thickness in the early asymptomatic phase and severe thickening and hypokinesia of the left ventricular posterior wall and interventricular septum in clinically apparent cardiac dysfunction. Echocardiographic findings have both diagnostic and prognostic importance.

Echocardiography

Possible findings on transthoracic echocardiography include:[3][4][5][6][7]

  • Thickening of the left ventricle. Progression of LV thickening is a far more powerful predictor of survival in patients with cardiac amyloidosis compared to other parameters like LV ejection fraction, thick LV and/or low voltage EKG. [8]
  • Granular or sparkling appearance of the myocardium secondary to amyloid deposition in the myocardium. This finding is especially seen best with two dimentional echocardiography as hyperrefractile myocardial echoes.[9]
  • Thickening of interventricular septum
  • Diastolic dysfunction[10]
  • Normal or reduced LV cavity
  • Pericardial effusion is often present but is usually small
  • Right ventricular hypertrophy[11]
  • Left atrial enlargement
  • Thickened AV valves
  • Right ventricular dilatation (poor prognostic marker indicating right heart failure and with a median survival of only 4 months)[11]
  • Dynamic left ventricular outflow tract obstruction[12]
  • Dissociation between short and long axis systolic function. Typically, there is much greater restriction of movement at the base compared to the apex. [13][9]
  • Intracardiac thrombus: Occurrence of intracardiac thrombi is frequent in patients with cardiac amyloidosis especially in the AL type. Atrial fibrillation, poor left ventricular diastolic function and atrial mechanical dysfunction have been shown to be associated with increased risk for developing intracardiac thrombi. [14][15]

The combination of increased thickness of the left ventricular posterior wall and interventricular septum with a low voltage electrocardiographic pattern is highly specific for cardiac amyloidosis. In an echocardiographic study conducted in 54 patients (30 with AA type cardiac amyloidosis and 24 with AL type amyloidosis) it was found that this finding is more often seen in the AL type cardiac amyloidosis.[16] In a prospective study to compare voltage-to-mass ratio to other diagnostic tests in patients with cardiac amyloidosis, it was found that voltage-to-mass ratio is more sensitive than EKG, 2D Echo and nuclear scanning alone.

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References

  1. Mohty, Dania; Damy, Thibaud; Cosnay, Pierre; Echahidi, Najmeddine; Casset-Senon, Danielle; Virot, Patrice; Jaccard, Arnaud (2013). "Cardiac amyloidosis: Updates in diagnosis and management". Archives of Cardiovascular Diseases. 106 (10): 528–540. doi:10.1016/j.acvd.2013.06.051. ISSN 1875-2136.
  2. Cueto-Garcia, Luis; Reeder, Guy S.; Kyle, Robert A.; Wood, Douglas L.; Seward, James B.; Naessens, James; Offord, Kenneth P.; Greipp, Philip R.; Edwards, William D.; Tajik, A. Jamil (1985). "Echocardiographic findings in systemic amyloidosis: Spectrum of cardiac involvement and relation to survival". Journal of the American College of Cardiology. 6 (4): 737–743. doi:10.1016/S0735-1097(85)80475-7. ISSN 0735-1097.
  3. Siqueira-Filho AG, Cunha CL, Tajik AJ, Seward JB, Schattenberg TT, Giuliani ER (1981). "M-mode and two-dimensional echocardiographic features in cardiac amyloidosis". Circulation. 63 (1): 188–96. PMID 7438392. Unknown parameter |month= ignored (help)
  4. Nishikawa H, Nishiyama S, Nishimura S; et al. (1988). "Echocardiographic findings in nine patients with cardiac amyloidosis: their correlation with necropsy findings". Journal of Cardiology. 18 (1): 121–33. PMID 3221306. Unknown parameter |month= ignored (help)
  5. Hamer JP, Janssen S, van Rijswijk MH, Lie KI (1992). "Amyloid cardiomyopathy in systemic non-hereditary amyloidosis. Clinical, echocardiographic and electrocardiographic findings in 30 patients with AA and 24 patients with AL amyloidosis". European Heart Journal. 13 (5): 623–7. PMID 1618203. Unknown parameter |month= ignored (help)
  6. Klein AL, Hatle LK, Taliercio CP; et al. (1990). "Serial Doppler echocardiographic follow-up of left ventricular diastolic function in cardiac amyloidosis". Journal of the American College of Cardiology. 16 (5): 1135–41. PMID 2229760. Unknown parameter |month= ignored (help)
  7. Koyama J, Falk RH (2010). "Prognostic significance of strain Doppler imaging in light-chain amyloidosis". JACC. Cardiovascular Imaging. 3 (4): 333–42. doi:10.1016/j.jcmg.2009.11.013. PMID 20394893. Unknown parameter |month= ignored (help)
  8. Kristen AV, Perz JB, Schonland SO; et al. (2007). "Rapid progression of left ventricular wall thickness predicts mortality in cardiac light-chain amyloidosis". The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation. 26 (12): 1313–9. doi:10.1016/j.healun.2007.09.014. PMID 18096484. Unknown parameter |month= ignored (help)
  9. 9.0 9.1 Selvanayagam JB, Hawkins PN, Paul B, Myerson SG, Neubauer S (2007). "Evaluation and management of the cardiac amyloidosis". Journal of the American College of Cardiology. 50 (22): 2101–10. doi:10.1016/j.jacc.2007.08.028. PMID 18036445. Unknown parameter |month= ignored (help)
  10. Migrino RQ, Mareedu RK, Eastwood D, Bowers M, Harmann L, Hari P (2009). "Left ventricular ejection time on echocardiography predicts long-term mortality in light chain amyloidosis". Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography. 22 (12): 1396–402. doi:10.1016/j.echo.2009.09.012. PMC 2787973. PMID 19880277. Unknown parameter |month= ignored (help)
  11. 11.0 11.1 Patel AR, Dubrey SW, Mendes LA; et al. (1997). "Right ventricular dilation in primary amyloidosis: an independent predictor of survival". The American Journal of Cardiology. 80 (4): 486–92. PMID 9285663. Unknown parameter |month= ignored (help)
  12. Philippakis AA, Falk RH (2012). "Cardiac amyloidosis mimicking hypertrophic cardiomyopathy with obstruction: treatment with disopyramide". Circulation. 125 (14): 1821–4. doi:10.1161/CIRCULATIONAHA.111.064246. PMID 22492950. Unknown parameter |month= ignored (help)
  13. Koyama J, Ray-Sequin PA, Falk RH (2003). "Longitudinal myocardial function assessed by tissue velocity, strain, and strain rate tissue Doppler echocardiography in patients with AL (primary) cardiac amyloidosis". Circulation. 107 (19): 2446–52. doi:10.1161/01.CIR.0000068313.67758.4F. PMID 12743000. Unknown parameter |month= ignored (help)
  14. Feng D, Syed IS, Martinez M; et al. (2009). "Intracardiac thrombosis and anticoagulation therapy in cardiac amyloidosis". Circulation. 119 (18): 2490–7. doi:10.1161/CIRCULATIONAHA.108.785014. PMID 19414641. Unknown parameter |month= ignored (help)
  15. Feng D, Edwards WD, Oh JK; et al. (2007). "Intracardiac thrombosis and embolism in patients with cardiac amyloidosis". Circulation. 116 (21): 2420–6. doi:10.1161/CIRCULATIONAHA.107.697763. PMID 17984380. Unknown parameter |month= ignored (help)
  16. Rahman JE, Helou EF, Gelzer-Bell R; et al. (2004). "Noninvasive diagnosis of biopsy-proven cardiac amyloidosis". Journal of the American College of Cardiology. 43 (3): 410–5. doi:10.1016/j.jacc.2003.08.043. PMID 15013123. Unknown parameter |month= ignored (help)


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