E063 Cardiac amyloidosis: a case series of 31 patients with a comprehensive literature review
Authors: Chadli Sarra , Maamar Mouna , Khibri Hajar , Moatassim Naima , Ammouri Wafaa , Harmouche Hicham , Adnaoui Mohammed , Mezalek Zoubida Tazi 
Published: April 2023

Background/Aims

Amyloidosis is a broad spectrum of heterogeneous diseases, characterized by the accumulation and extracellular deposit of misfolded proteins, resulting in organs’ thickening and dysfunction. Cardiac amyloidosis (CA) is common and represents an important key factor in patients’ prognosis. Our study aims to depict the profile of patients with CA, so as present their therapeutic management and outcomes.

Methods

We retrospectively carried out a descriptive study between 2015 and 2022, including all patients admitted to our department for systemic amyloidosis (SA) with confirmed cardiac involvement on echocardiography (TTE) and/or cardiac magnetic resonance (CMR).

Results

31 patients were enrolled. The sex ratio (M/F) was 0.93 and the mean age was 62 ± 15 years (26-86). Past history included multiple myeloma (n = 7), monoclonal gammapathy of undetermined significance (n = 1), T lymphoma (n = 1), and systemic amyloidosis (n = 1). Cardiovascular risk factors comprised high blood pressure (25%), type 2 diabetes (15%), dyslipidemia (9%), and smoking (8%). Patients presented after a mean of 12 ± 4 months since the onset, with peripheral edema (68%) and other signs of right (53%) and global heart failure (19%). Concomitant extracardiac involvements were mainly renal (55%), mucocutaneous (20%), and neurological (16%). Electrocardiogram showed low-voltage (41%), poor R-wave progression (23%), atrial fibrillation (10%), atrioventricular block (6%), right bundle branch block (6%), left bundle branch block (6%), junctional tachycardia (6%), and left ventricular hypertrophy (LVH) (6%). On TTE, the features observed were the altered longitudinal global strain (93%) with a bull’s eye pattern (90%), LVH (90%), valvular and septal hypertrophy (88%), sparkling myocardium (65%), pericardial effusion (54%), diastolic dysfunction (37%), dilated cavities (35%), pulmonary hypertension (29%), and aortic stenosis (3%). Systolic function was mostly conserved (73%), at a mean of 53 ± 10%. The most recurrent signs on CMR were: late enhancement (90%), LVH (80%), and abnormalities in myocardium nulling (25%). Cardiac biomarkers included a Troponin of 0.35 ng/ml [0.13; 506] and BNP of 4895 pg/ml [1588; 13 224]. BS showed positive cardiac fixation (grade 2 or 3) in six cases, confirming ATTR-CA. Peripheral biopsies, serum and urine immunofixation, free light chains assays, and medullar investigations demonstrated AL in 23 patients. Two cases of AA were confirmed on immunohistochemistry, complicating sarcoidosis (n = 1) and ankylosing spondylitis (n = 1). Patients were treated with chemotherapy (n = 11), Tafamidis (n = 3), and Infliximab (n = 2). The outcomes documented were complete remission (n = 1), partial remission (n = 3), and death (n = 9) with a median survival of 7 months.

Conclusion

Our study highlights the grim prognosis still carried by CA patients. Although increased awareness is noticed among physicians, the disease is often discovered at a late stage or even overlooked. Further understanding of CA and prompt screening of at-risk patients are thus crucial for early diagnosis and management, in order to improve patients' outcomes.

Disclosure

S. Chadli: None. M. Maamar: None. H. Khibri: None. N. Moatassim: None. W. Ammouri: None. H. Harmouche: None. M. Adnaoui: None. Z. Tazi Mezalek: None.