Clinical Case Portal


Echocardiographic findings of biopsy proven systemic and cardiac amyloidosis



Date of publication:

23 Nov 2006

Topics:

Myocardial Disease

Authors:

Dr. Margherita Cinello
e-mail: margherita.cinello@libero.it

Dr. Luigi Badano
e-mail: badano.luigi@aoud.sanita.fvg.it

Dr. Pasquale Gianfagna
e-mail: gianfagna.pasquale@aoud.sanita.fvg.it

Cardiopulmonary Science Department, S.O.C. Cardiologia, Azienda Ospedaliero-Universitaria di Udine, P.le S.Maria della Misericordia, 15. 33100, Udine, Italy.





Case Report

We describe a case of systemic amyloidosis with cardiac involvement diagnosed by transthoracic echocardiography and hystologic study.


Patient history prior to current observation :

A 62-year-old caucasian woman was evaluated at our institution because of dizziness. She has been previously hospitalized in medical department where systemic amyloidosis with renal and liver involvement was diagnosed. For severe renal impairment the patient was in chronic dialytic treatment. Her medical history was remarkable for systemic hypertension, monoclonal gammopathy and thyroidectomy for papillifery carcinoma.


Clinical findings on admission, evolution and outcome :

Physical examination: Blood Pressure = 140/80 mmHg, Heart Rate = 87/min regular, 3/6 apical systolic murmur, clear lungs, no peripheral oedema, hepatomegaly or jugular veins' distention.

ECG: Sinus rhythm at 87 bpm with low voltages in peripheral leads and pseudo-infarction pattern in precordial leads (fig. 1).

Transthoracic echocardiography showed nondilated ventricles with wall thickening and "granular sparkling" appearance of the myocardium (fig. 2, fig. 3, fig. 4), preserved left ventricular global systolic function (fig. 5), diastolic dysfunction with a restrictive pattern (fig. 6). Aortic and mitral leaflets appeared slightly tickened (fig. 5) and color-Doppler showed mild aortic and mitral regurgitation. Atrial chamber appeared enlarged with no evidence of atrial septum thickening (fig. 5).

Immunohistochemical stainings: myocardial (fig. 7), renal (fig. 8), bone marrow (fig. 9) and colon (fig. 10) amyloid deposition.

Conclusion

Our case is representative of a tipycal case of systemic amyloidosis with cardiac involvement. The diagnosis is important for prognosis and therapy. However, this diagnosis can be difficult because the clinical presentation may mimic other infiltrative cardiomyopathies or storage disorders, as well as hypertrophic cardiomyopathy. Even in absence of hystological confirmation of the diagnosis, there is evidence that a combination of echocardiographic and ECG features (low voltage ECG and increased interventricular septal thickness), in patients with clinical suspicion of cardiac amyloidosis, could allow a correct diagnosis wit a high positive predictive value (1).

References

Rahman JE et al. Noninvasive Diagnosis of Byopsy-Proven Cardiac Amyloidosis. J Am Coll Cardiol 2004; 43:410-5.

fig. 1 :
Cardiac amyloidosis_Electrocardiogram


fig. 2 :
Cardiac amylodosis_Transthoracic left ventricle M-Mode


fig. 3 :
Cardiac amyloidosis_Transthoracic short-axis view

Cardiac amyloidosis_Transthoracic short-axis view

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fig. 4 :
Cardiac amyloidosis_Transthoracic apical four-chamber view

Cardiac amyloidosis_Transthoracic apical four-chamber view

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fig. 5 :
Cardiac amyloidosis_Transmitral Doppler flow and Tissue Doppler Imaging


fig. 6 :
Cardiac amyloidosis_Endomyocardial biopsy


fig. 7 :
Cardiac amyloidosis_Renal byopsy


fig. 8 :
Cardiac amyloidosis_Bone marrow biopsy


fig. 9 :
Cardiac amyloidosis_Colon biopsy

 
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