Clinical evaluation of infiltrative cardiomyopathies resulting in heart failure with preserved ejection fraction.

Nidhi Madan,Dipak Kalra

doi:10.31083/j.rcm.2020.02.65

Nidhi Madan, Dipak Kalra

Open Access

https://doi.org/10.31083/j.rcm.2020.02.65

Copy DOI

Abstract

Heart failure with preserved ejection fraction is a very common clinical problem. Its prevalence is increasing with aging of the population. A diverse group of risk factors and etiologies comprise the HFpEF syndrome. No specific therapies have been shown to improve survival for the vast majority of HFpEF cases. Restrictive cardiomyopathies account for a significant portion of HFpEF patients and are characterized by diastolic dysfunction due to infiltration of the myocardium or ventricular hypertrophy. Many of these restrictive diseases occur in the context of myocardial infiltration by other substances such as amyloid, iron or glycogen or endomyocardial fibrosis. These infiltrative diseases usually have important clues in the clinical picture and on cardiac imaging that may allow differentiation from the usual HFpEF phenotype (that is commonly seen in the older, hypertensive patient). Noninvasive diagnosis has replaced endomyocardial biopsy for most instances in the workup of these conditions. Early recognition is important to institute specific therapies and to improve prognosis. In this review, we describe 4 major infiltrative cardiomyopathies (Cardiac Amyloidosis, Sarcoidosis, Hemochromatosis and Fabry disease), and their key imaging features.

Highlights

Heart failure with preserved ejection fraction (HFpEF) refers to heart failure symptoms with normal or near-normal cardiac function on echocardiography
Most HFpEF cases are associated with common cardiac risk factors such as hypertension, diabetes, renal disease, sleep apnea, obesity and aging, but a few cases are due to specific infiltrative disorders wherein the myocardial architecture and function is altered by excess accumulation of either abnormal proteins, glycosphingolipids, glycogen or other substances (Table 1)
Hypertensive heart disease causing HFpEF is common in older individuals, especially in hypertensive women and is treated with control of blood pressure and diuretics, whereas patients with Fabry cardiomyopathy are usually younger men who have other characteristic clinical features of that disease and are treated with enzyme replacement therapy

Summary

Introduction

Heart failure with preserved ejection fraction (HFpEF) refers to heart failure symptoms with normal or near-normal cardiac function on echocardiography. The major clinical presentation of RCM is HFpEF with dyspnea on exertion and fatigue being very common symptoms; HFrEF may occur in the later or terminal stages of the disease and is not uncommonly seen in advanced CA and hemochromatosis. Symptoms such as dyspnea are mainly due to increased LV filling pattern secondary to reduced viscoelastic properties and increased parietal stiffness. It has the disadvantage of being an invasive tool; this may lead to a delay in the diagnosis as it is used only when clinical suspicion is high or noninvasive tests have yielded inconclusive results

Amyloidosis

Cardiac sarcoidosis

Hemochromatosis

Fabry disease

Findings

Conclusions