# A case series of patients with cardiac amyloidosis evaluated at a Colombian university hospital

## TL;DR

This study examines the characteristics of cardiac amyloidosis in Colombian patients, revealing common types and genetic patterns.

## Contribution

The study provides new insights into the prevalence and genetic markers of cardiac amyloidosis in Colombia.

## Key findings

- ATTRv and AL were the most common types of cardiac amyloidosis in the study population.
- The p.Val142Ile TTR mutation was found in all ATTRv patients, indicating a strong African genetic influence.
- Common clinical features included NYHA I-II functional capacity and specific electrocardiographic findings.

## Abstract

In Colombia, the characteristics of cardiac amyloidosis (CA)—including wild-type transthyretin amyloidosis (ATTRwt), immunoglobulin light chain amyloidosis (AL), and genetic variant transthyretin amyloidosis (ATTRv)—are underexplored.

This case series at a Colombian university hospital analyzed demographic, clinical, laboratory, radiological, and genetic data of CA patients diagnosed between 2018 and 2022. Patients with incomplete data underwent further testing.

Of 24 identified patients, 14 were included after exclusions. The majority were male (73.3%), with an average age of 70.6 years. ATTRv and AL were equally prevalent (42.8%), followed by ATTRwt (14.2%). The p.Val142Ile TTR mutation was found among all ATTRv patients. Most presented with functional capacity NYHA I-II and common electrocardiographic findings included low voltage, atrial fibrillation, and first-degree AV block. Echocardiography and cardiac magnetic resonance imaging revealed ventricular hypertrophy, diastolic dysfunction, reduced longitudinal strain, and late myocardial enhancement.

AL and ATTRv were the most common causes of CA followed by ATTRwt. This distribution, along with the clinical, and radiological characterization is consistent with previous reports of other regions. The p.Val142Ile mutation was the only one found in patients with ATTRv, suggesting a strong African genetic influence. These findings enhance our understanding of CA in the region.