# Heart Failure With Preserved Ejection Fraction: A Case of Cardiac Amyloidosis and the Importance of Echocardiography in the Diagnostic Workup of Infiltrative Disease

**Authors:** Prarthna Shah, Kaitlin N Murphy, Szabolcs Simo, Alberth Alvarado, Thomas Vanhecke

PMC · DOI: 10.7759/cureus.98258 · Cureus · 2025-12-01

## TL;DR

A case of heart failure with preserved ejection fraction due to cardiac amyloidosis highlights the importance of echocardiography in diagnosing infiltrative heart disease.

## Contribution

This case emphasizes the role of echocardiography in identifying cardiac amyloidosis in patients with nonspecific symptoms.

## Key findings

- Echocardiography provided early clues suggesting cardiac amyloidosis in a patient with nonspecific symptoms.
- Prompt recognition of echocardiographic features led to a confirmed diagnosis of cardiac amyloidosis.
- The case illustrates the importance of clinical suspicion and targeted testing in diagnosing infiltrative cardiomyopathy.

## Abstract

Cardiac amyloidosis (CA) is an uncommon and likely underdiagnosed infiltrative cardiomyopathy that results from extracellular deposition of misfolded proteins. Although considered rare, its true prevalence is believed to be higher than currently recognized due to its nonspecific presentation and diagnostic complexity. Echocardiography remains a cornerstone of the initial evaluation, often providing the earliest clues that suggest underlying CA. Multiple subtypes of CA exist, each posing unique diagnostic challenges and requiring distinct treatment strategies.
We describe a previously healthy patient who presented with progressive anasarca and new-onset diabetes mellitus. Initial workup was unrevealing; however, an echocardiogram later demonstrated features concerning for CA, which were promptly identified by an astute clinician. This recognition led to a targeted diagnostic workup and ultimately confirmed the diagnosis. This case report describes a previously healthy patient who developed progressive anasarca and new-onset diabetes. After an echocardiogram was performed for further evaluation, characteristic features of CAs were identified by an astute clinician, leading to appropriate diagnostic testing.

## Linked entities

- **Diseases:** heart failure (MONDO:0005252), diabetes mellitus (MONDO:0005015)

## Full-text entities

- **Diseases:** Infiltrative Disease (MESH:D017254), Heart Failure (MESH:D006333), anasarca (MESH:D004487), cardiomyopathy (MESH:D009202), diabetes (MESH:D003920), CA (MESH:D000686)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12756682/full.md

## References

18 references — full list in the complete paper: https://tomesphere.com/paper/PMC12756682/full.md

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Source: https://tomesphere.com/paper/PMC12756682