Unveiling the diagnosis of cardiac amyloidosis in a patient with large pericardial effusion and tamponade

Pardha Saradhi Sivakoti; G Harsha; Praveen Nagula; Srinivas Ravi

doi:10.4103/rcm.rcm_3_21

CASE REPORT

Year : 2021 | Volume : 10 | Issue : 2 | Page : 65-67

Unveiling the diagnosis of cardiac amyloidosis in a patient with large pericardial effusion and tamponade

Pardha Saradhi Sivakoti, G Harsha, Praveen Nagula, Srinivas Ravi
Department of Cardiology, Osmania Medical College, Hyderabad, Telangana, India

Date of Submission	24-Jan-2021
Date of Acceptance	10-May-2021
Date of Web Publication	29-Jul-2021

Correspondence Address:
Dr. Pardha Saradhi Sivakoti
Department of Cardiology, Osmania Medical College, Hyderabad, Telangana
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/rcm.rcm_3_21

Abstract

Amyloidosis is a clinical disorder caused by extracellular deposition of insoluble fibrils with beta-pleated sheet configuration. The protein misfolding abnormalities result in amyloid fibrils and may manifest as primary, secondary, familial, or senile amyloidosis. Amyloid deposition can occur in multiple organs (e.g. heart, liver, kidney, skin, eyes, lungs, and nervous system), resulting in a variety of clinical manifestations. Cardiac involvement is a progressive disorder resulting in early death due to congestive heart failure and arrhythmias. We report a rare case of cardiac amyloidosis presenting as recurrent pericardial effusion with features of restrictive cardiomyopathy.

Keywords: Cardiac amyloidosis, late gadolinium enhancement, nulling of the myocardium, pericardial effusion, pericardiocentesis, tamponade

How to cite this article:
Sivakoti PS, Harsha G, Nagula P, Ravi S. Unveiling the diagnosis of cardiac amyloidosis in a patient with large pericardial effusion and tamponade. Res Cardiovasc Med 2021;10:65-7

How to cite this URL:
Sivakoti PS, Harsha G, Nagula P, Ravi S. Unveiling the diagnosis of cardiac amyloidosis in a patient with large pericardial effusion and tamponade. Res Cardiovasc Med [serial online] 2021 [cited 2022 May 22];10:65-7. Available from: https://www.rcvmonline.com/text.asp?2021/10/2/65/322582

Introduction

Amyloidosis is characterized by extracellular deposition of misfolded soluble protein into insoluble fibrils, causing tissue damage and organ dysfunction. Cardiac involvement is seen in about 20% of patients. Patients with cardiac involvement can present with cardiomyopathy, heart failure, or arrhythmias.^[1] We report a case of cardiac amyloidosis (CA) presenting simultaneously with features of tamponade, restrictive cardiomyopathy (RCM), and complete heart block (CHB).

Case

A 65-year-old woman had progressive dyspnea, pedal edema, and abdominal distention for 2 months. She had similar admissions in the past but was not under regular follow-up. At her initial admission, she was hypotensive secondary to a large pericardial tamponade. Electrocardiogram (ECG) showed atrial fibrillation (AF) with a fast ventricular rate and QRS alternans [Figure 1]a. After emergency pericardiocentesis, echocardiogram showed biatrial enlargement, hypertrophied ventricles with severe diastolic dysfunction. The pulmonary hypertension was of moderate severity. The aspirate was exudative with predominant neutrophils with adenosine deaminase of 18 U/L. The cytology for malignancy, viral markers, culture for bacterial growth, and Mantoux test was negative. The routine biochemical, hepatic, and thyroid profile was normal. After a week of broad-spectrum antibiotics, antiarrhythmics, and oral anticoagulants, she was discharged. She was lost to follow-up.

Figure 1: (a) The 12 lead electrocardiogram at the initial admission showing atrial fibrillation with a fast ventricular rate. There is QRS alternans evident in the rhythm strip. (b) The current admission electrocardiogram of the same patient showing the fibrillatory waves and complete heart block with a ventricular rate of 35/min

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Subsequent admission after 2 years did not reveal any new findings. The antinuclear antibody and connective tissue profile were negative. The patient denied cardiac magnetic resonance imaging (MRI) for further evaluation. At present admission, she was cachectic. The heart rate was regular at 36/min, her blood pressure was recorded as 90/60 mmHg, and she had a raised jugular venous pulse. The ECG showed AF with CHB [Figure 1]b. The clinical status stabilized after pericardiocentesis. The fluid analysis was the same as before.

In view of progressive symptoms due to refractory diastolic heart failure and presence of conduction abnormalities, an infiltrative cardiomyopathy was suspected. A cardiac MRI with contrast and late gadolinium enhancement (LGE) sequences confirmed the suspicion. There was biatrial enlargement with moderate circumferential pericardial effusion [Figure 2]a. The LGE phase-sensitive image reconstruction (PSIR) series showed a diffuse enhancement of the subendocardium and reversal of the myocardium nulling, suggestive of amyloidosis [Figure 2]b. There was normal biventricular function with mild biventricular hypertrophy on the MRI [Figure 3]. An endomyocardial biopsy could not be done because of her heart failure. Permanent pacemaker implantation was planned for her CHB, but she succumbed to death.

Figure 2: (a) Apical four-chamber cine view showing moderate circumferential pericardial effusion with biatrial enlargement and normal-sized ventricles. (b) Phase-sensitive image reconstruction sequence after the late gadolinium enhancement of the apical four-chamber view showing circumferential subendocardial delayed enhancement of the ventricles

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Figure 3: Cardiac magnetic resonance display showing normal left ventricular systolic function

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Discussion

The three most common types of CA are light chain (amyloid light chain, [AL]), familial or senile (adult transthyretin [ATTR]), and secondary (amyloid A [AA]) amyloidosis.^[1] CA can have varied presentations such as heart failure, conduction blocks, a pericardial disease with mild effusion, thromboembolism, syncope, and sudden cardiac death. The presence of cardiac involvement is considered a poor prognosis in amyloidosis.^[2]

The pericardial effusion is conventionally mild to moderate in a CA patient. The effusion can result from plasma cell infiltration, amyloid deposition in blood vessels, deficiencies of coagulation factors II, VII, and X, or subendocardial infiltration of amyloid.^[3] Our patient presented initially with cardiac tamponade, which is an infrequent presentation of CA. She perpetuated to have recurrent effusions on follow-up. With no history of prior bleeding manifestations and no dysplastic plasma cells on aspirate, the most likely cause of the effusion is subendocardial infiltration, corroborated by cardiac MRI.

The ECG features of amyloidosis are low QRS voltages (approximately in half of the patients with AL amyloidosis), first-degree atrioventricular block (21%), nonspecific intraventricular conduction delay (16%), second- or third-degree atrioventricular block (3%), AF/flutter (20%), and ventricular tachycardia (5%).^[4] Our patient initially had AF with a fast ventricular rate, which later progressed to CHB (regularized AF) over 2 years. This denotes the chronicity and severity of the conduction disease.

Although the clinical presentation was cardiac tamponade, the echocardiographic features favored RCM. In the literature review with above features, there was one case of the fetus diagnosed with pericardial tamponade and RCM during the intrapartum period. The reported etiology, in that case, was idiopathic RCM.^[5] In another case, the patient presented with systemic amyloidosis with chronic nonresolving pericardial effusion and CHB.^[2] The third case had acute cardiac tamponade in light chain amyloidosis.^[3] However, both the entities presenting simultaneously (i.e. cardiac tamponade and CHB) in an adult have not been reported in the literature. To the best of our cognizance, this is the first case being reported.

Amyloidosis is often a diagnosis of exclusion. The definitive diagnosis of it requires biopsy. The usual abdominal fat pad has variable sensitivity (lowest in ATTR amyloidosis). Even though the biopsy may be negative, further evaluation is essential in case of high clinical suspicion. The biopsy of the clinically affected organ can be useful in such cases (e.g., endomyocardial biopsy). The Congo red staining of the biopsy specimen is 100% specific for detecting amyloid deposits and helps in equivocal findings.^[6]

Because of the elderly age, with no systemic involvement and negative fat pad biopsy, ATTR CA is the likely cause. Diffuse subendocardial and transmural LGE is characteristic of CA on MRI, which was optically discerned in our patient. The LGE technique has matured over the years, leading to the wide adoption of PSIR, a more robust, reliable process than magnitude reconstruction. The primary advantage is, it predominantly overrides the operator-determined optimal null point and other related errors. With the PSIR LGE approach, three patterns were seen, i.e., no enhancement, diffuse subendocardial, and transmural.^[7] The transmurality of LGE shows a good correlation with the degree of myocardial infiltration. Imaging modalities with high diagnostic specificity for CA are bone scintigraphy and CMR imaging. They also have higher sensitivity, particularly for ATTR CA, than fat pad biopsy. The utilization of these modalities earlier in the course will unveil the ambiguity in high suspicion of the disorder.^[8]

Conclusion

The pericardial effusion with tamponade (a primary pericardial pathology) turned out to be a manifestation of a myocardial disorder (amyloid cardiomyopathy) after cardiac MRI. The differentiation is of importance as the former is curative and the latter is conservative in management.

Declaration of patient consent

We certify that we have obtained informed consent from the patient and other clinical information to be reported in the journal. The patient understands that their identity won't be revealed but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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