Analysis and insights of cardiac amyloidosis: novel perception of rare diseases in cardiology.

BACKGROUND

Amyloidosis is a rare systemic disease, while cardiac amyloidosis (CA) is nothing more than a chronic disease that causes fatal damage to the structure and function of the heart. The pathogenesis of CA is elusive, the clinical manifestations are diverse and lack of specificity, and the treatment and prognosis of different subtypes vary widely. It is of great practical significance to deepen the understanding of CA.

OBJECTIVE AND METHODS

The clinical data of 39 patients with CA admitted to the First Affiliated Hospital of Gannan Medical University and Fujian Medical University Union Hospital from January 1, 2018 to March 1, 2024 were collected and retrospectively studied, and the clinical features, diagnosis, differentiation, treatment effects and prognosis of CA patients were analyzed. The Kaplan-Meier method was used for survival analysis. Meanwhile, the latest literature from PubMed was retrieved to systematically discuss the research progress in the diagnosis and treatment of CA. This paper is expected to provide novel and valuable references for the clinical and basic research of CA.

RESULTS

A total of 39 patients with CA were included in this study, including 23 males (58.97%) and 16 females (41.03%). The average age at diagnosis was 60.51±10.28 years old. In this study, 24 patients (61.54%) had anemia of different degrees, 19 patients (48.72%) were accompanied by abnormal elevation of cardiac troponin T (cTnT), and all patients (100%) had abnormal elevation of N-terminal pro-brain natriuretic peptide (NT-proBNP), and 28 patients (71.79%) had renal impairment. Typical electrocardiogram (ECG) findings in CA patients in this study show low voltage in limb leads, various types of atrioventricular block, various types of tachycardia, atrial fibrillation and poor R-wave progression. The representative results of ultrasonic cardiogram (UCG) showed: 1. Atrium were enlarged, and ventricular wall motion was weakened. 2. Septum and posterior walls of the ventricle were symmetrically thickened, and the myocardium showed speckled strong echo. 3. Mitral regurgitation (moderate to severe) and tricuspid regurgitation. 4. Widening of the pulmonary artery and pulmonary hypertension. Typical results of cardiac magnetic resonance imaging (MRI) of CA patients in this study showed that delayed gadolinium enhancement of the ventricular wall, with ventricular wall thickening to varying degrees and ventricle or atrium enlargement. The pathological manifestations of CA patients in this study were mostly Congo red staining (+) and deposition of eosinophilic amyloid in the affected organs or tissues. All CA patients included in this study received standardized treatment, the median follow-up time was 29.5 (range, 6.5-71) months, and at the latest follow-up, only 12 cases of 39 patients with CA were still alive, and 27 patients died in our study, all of which were due to uncontrollable progression of the disease and failed treatment. Our study showed that there is no statistical significance in the different age groups of the CA patients (>0.05), while it was surprising that male CA patients had significantly worse overall survival (OS) than female patients. Correspondingly, patients who received chemotherapy and were accompanied with renal impairment had a worse prognosis than those who did not receive chemotherapy and had normal renal function (all <0.05).

CONCLUSION

CA is a rare disease caused by systemic amyloidosis, the pivotal points of CA diagnosis and treatment as well as the premise for improving the long-term prognosis of CA patients are clear diagnosis and accurate typing. The treatment of CA also requires targeted individual treatment according to the subtype and etiology of CA patients, so as to maximize the prognosis of CA patients.