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

Sep 28, 2026

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Cardiac amyloidosis (CA) is an uncommon infiltrative cardiomyopathy caused by extracellular deposition of misfolded proteins and is often underdiagnosed due to nonspecific presentation and diagnostic complexity. Echocardiography is a cornerstone of initial evaluation, frequently providing the earliest clues that suggest CA. Multiple CA subtypes require distinct diagnostic approaches and treatment strategies. The case describes a previously healthy patient with progressive anasarca and new-onset diabetes; early workup was unrevealing, but echocardiographic findings prompted targeted testing and confirmed the diagnosis.

LanguageEnglish

CategoryHealthcare

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Abstract

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Open Access Case Report Published via VCOM Clinical, Biomedical, and Educational Research Received 09/26/2025 Review began 11/03/2025 Review ended 11/26/2025 Published 12/01/2025 © Copyright 2025 Shah et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0. , which permits unrestricted use , distribution , and reproduction in any medium , provided the original author and source are credited. DOI: 10.7759/cureus.98258 Heart Failure With Preserved Ejection Fraction: A Case of Cardiac Amyloidosis and the Importance of Echocardiography in the Diagnostic Workup of Infiltrative Disease Prarthna Shah 1 , Kaitlin N. Murphy 2, Szabolcs Simo 3, Alberth Alvarado 3, Thomas Vanhecke 4 1. Medicine, Kansas College of Osteopathic Medicine, Wichita, USA 2. Internal Medicine, Edward Via College of Osteopathic Medicine, Blacksburg, USA 3. Internal Medicine, Henry Ford Genesys Hospital, Grand Blanc, USA 4. Cardiology, Henry Ford Genesys Hospital, Grand Blanc, USA Corresponding author: Prarthna Shah, [prarthnasshah@gmail.com](prarthnasshah@gmail.com) 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 challengesand 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. Categories: Cardiology Keywords: amyloidosis, cardiac amyloidosis, echocardiography findings cardiac amyloidosis, heart failure with preserved ejection fraction (hfpef), infiltrative disease Introduction Heart failure with preserved ejection fraction (HFpEF) accounts for approximately 50% of all heart failure cases and presents a growing burden on healthcare systems worldwide [1] . Unlike heart failure with reduced ejection fraction (HFrEF), HFpEF is often more strongly associated with comorbidities such as hypertension, diabetes mellitus, and renal dysfunction. In some cases, however, it may represent a manifestation of underlying infiltrative cardiomyopathy. Cardiac amyloidosis (CA), particularly transthyretin amyloid cardiomyopathy (ATTR-CM) and light chain (AL) amyloidosis, is an underrecognized yet increasingly identified cause of HFpEF [2,3] . The natural course of CA is typically progressive, beginning with asymptomatic diastolic dysfunction, advancing to restrictive cardiomyopathy, and eventually resulting in overt heart failure, arrhythmias, and multi-organ involvement if untreated [4] . Early diagnosis is therefore crucial, as delayed recognition often leads to advanced disease at presentation and limited therapeutic options [5] . Diagnosing CA can be difficult due to its nonspecific clinical features, which may include progressive dyspnea, peripheral edema, and fatigue [6] . Electrocardiogram findings such as low voltage QRS complexes or pseudoinfarction patterns, combined with echocardiographic features such as concentric left ventricular hypertrophy, speckled myocardi

FAQs

Why is cardiac amyloidosis often underdiagnosed in patients with HFpEF?

Its clinical features are nonspecific and diagnostic workup can be complex, so recognition is frequently delayed despite CA being a cause of HFpEF.

What role does echocardiography play in diagnosing CA?

Echocardiography supports early suspicion by demonstrating characteristic findings, helping initiate prompt confirmatory testing such as serum/urine free light chain analysis, cardiac MRI, and/or tissue biopsy.

What findings led to the diagnosis in this case?

After a patient with progressive anasarca and new-onset diabetes had unrevealing initial workup, an echocardiogram showed features concerning for cardiac amyloidosis. This led to a targeted diagnostic workup and confirmation of CA.

Sep 28, 2026

Uploaded by Kurz