Advanced cardiac amyloidosis associated with normal interventricular septal thickness

An uncommon presentation of infiltrative cardiomyopathy

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19 Citations (Scopus)

Abstract

Background Increased interventricular septal (IVS) thickness on echocardiography is a diagnostic criterion for cardiac amyloidosis and classically precedes decrement in left ventricular ejection fraction (LVEF). The investigators describe patients with histologically confirmed cardiac amyloidosis who had significant myocardial dysfunction (LVEF ≤ 40%) despite having normal IVS thickness. Methods All patients with systemic amyloidosis and LVEFs ≤ 40% were analyzed to identify the prevalence of normal IVS thickness. Patients with known histories of cardiomyopathy or coronary artery disease were excluded. Histologic evaluation of tissue included assessment of amyloid burden and average myocyte diameter. Results There were 255 patients with amyloidosis with LVEFs ≤ 40%, of whom seven (3%) had normal IVS thickness and histologic confirmation of cardiac involvement. Of these, six had immunoglobulin light chain amyloidosis, and one had senile amyloidosis. A majority of patients (86%) presented with new-onset cardiac dysfunction associated with edema and/or dyspnea. Electrocardiographic findings included low voltage (43%) and a pseudoinfarct pattern (29%). The 1-year survival from initial tissue diagnosis in the cohort with normal IVS thickness was similar to matched patients with amyloidosis with increased IVS thickness and LVEF ≤ 40% (21% vs 18%, respectively, P =.32). Myocardial tissue amyloid burden and average myocyte diameter were significantly reduced in cases compared with controls. Conclusions Cardiac amyloidosis can uncommonly present with normal IVS thickness despite significant myocardial dysfunction. The prognosis of these patients is as poor as those with increased IVS thickness. Amyloidosis should be considered in the differential diagnosis of patients with cardiomyopathy and reduced LVEFs despite normal IVS thickness.

Original languageEnglish (US)
Pages (from-to)440-447
Number of pages8
JournalJournal of the American Society of Echocardiography
Volume27
Issue number4
DOIs
StatePublished - 2014

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Amyloidosis
Cardiomyopathies
Stroke Volume
Amyloid
Muscle Cells
Immunoglobulin Light Chains
Tissue Survival
Dyspnea
Echocardiography
Coronary Artery Disease
Edema
Differential Diagnosis
Research Personnel

Keywords

  • Amyloid
  • Cardiomyopathy
  • Diagnosis
  • Echocardiography
  • Heart failure

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Cardiology and Cardiovascular Medicine
  • Medicine(all)

Cite this

@article{6c82234704dc435b8f20bdc0ba2c1036,
title = "Advanced cardiac amyloidosis associated with normal interventricular septal thickness: An uncommon presentation of infiltrative cardiomyopathy",
abstract = "Background Increased interventricular septal (IVS) thickness on echocardiography is a diagnostic criterion for cardiac amyloidosis and classically precedes decrement in left ventricular ejection fraction (LVEF). The investigators describe patients with histologically confirmed cardiac amyloidosis who had significant myocardial dysfunction (LVEF ≤ 40{\%}) despite having normal IVS thickness. Methods All patients with systemic amyloidosis and LVEFs ≤ 40{\%} were analyzed to identify the prevalence of normal IVS thickness. Patients with known histories of cardiomyopathy or coronary artery disease were excluded. Histologic evaluation of tissue included assessment of amyloid burden and average myocyte diameter. Results There were 255 patients with amyloidosis with LVEFs ≤ 40{\%}, of whom seven (3{\%}) had normal IVS thickness and histologic confirmation of cardiac involvement. Of these, six had immunoglobulin light chain amyloidosis, and one had senile amyloidosis. A majority of patients (86{\%}) presented with new-onset cardiac dysfunction associated with edema and/or dyspnea. Electrocardiographic findings included low voltage (43{\%}) and a pseudoinfarct pattern (29{\%}). The 1-year survival from initial tissue diagnosis in the cohort with normal IVS thickness was similar to matched patients with amyloidosis with increased IVS thickness and LVEF ≤ 40{\%} (21{\%} vs 18{\%}, respectively, P =.32). Myocardial tissue amyloid burden and average myocyte diameter were significantly reduced in cases compared with controls. Conclusions Cardiac amyloidosis can uncommonly present with normal IVS thickness despite significant myocardial dysfunction. The prognosis of these patients is as poor as those with increased IVS thickness. Amyloidosis should be considered in the differential diagnosis of patients with cardiomyopathy and reduced LVEFs despite normal IVS thickness.",
keywords = "Amyloid, Cardiomyopathy, Diagnosis, Echocardiography, Heart failure",
author = "Rahul Suresh and Martha Grogan and Joseph Maleszewski and Patricia Pellikka and Mazen Hanna and Angela Dispenzieri and Pereira, {Naveen Luke}",
year = "2014",
doi = "10.1016/j.echo.2013.12.010",
language = "English (US)",
volume = "27",
pages = "440--447",
journal = "Journal of the American Society of Echocardiography",
issn = "0894-7317",
publisher = "Mosby Inc.",
number = "4",

}

TY - JOUR

T1 - Advanced cardiac amyloidosis associated with normal interventricular septal thickness

T2 - An uncommon presentation of infiltrative cardiomyopathy

AU - Suresh, Rahul

AU - Grogan, Martha

AU - Maleszewski, Joseph

AU - Pellikka, Patricia

AU - Hanna, Mazen

AU - Dispenzieri, Angela

AU - Pereira, Naveen Luke

PY - 2014

Y1 - 2014

N2 - Background Increased interventricular septal (IVS) thickness on echocardiography is a diagnostic criterion for cardiac amyloidosis and classically precedes decrement in left ventricular ejection fraction (LVEF). The investigators describe patients with histologically confirmed cardiac amyloidosis who had significant myocardial dysfunction (LVEF ≤ 40%) despite having normal IVS thickness. Methods All patients with systemic amyloidosis and LVEFs ≤ 40% were analyzed to identify the prevalence of normal IVS thickness. Patients with known histories of cardiomyopathy or coronary artery disease were excluded. Histologic evaluation of tissue included assessment of amyloid burden and average myocyte diameter. Results There were 255 patients with amyloidosis with LVEFs ≤ 40%, of whom seven (3%) had normal IVS thickness and histologic confirmation of cardiac involvement. Of these, six had immunoglobulin light chain amyloidosis, and one had senile amyloidosis. A majority of patients (86%) presented with new-onset cardiac dysfunction associated with edema and/or dyspnea. Electrocardiographic findings included low voltage (43%) and a pseudoinfarct pattern (29%). The 1-year survival from initial tissue diagnosis in the cohort with normal IVS thickness was similar to matched patients with amyloidosis with increased IVS thickness and LVEF ≤ 40% (21% vs 18%, respectively, P =.32). Myocardial tissue amyloid burden and average myocyte diameter were significantly reduced in cases compared with controls. Conclusions Cardiac amyloidosis can uncommonly present with normal IVS thickness despite significant myocardial dysfunction. The prognosis of these patients is as poor as those with increased IVS thickness. Amyloidosis should be considered in the differential diagnosis of patients with cardiomyopathy and reduced LVEFs despite normal IVS thickness.

AB - Background Increased interventricular septal (IVS) thickness on echocardiography is a diagnostic criterion for cardiac amyloidosis and classically precedes decrement in left ventricular ejection fraction (LVEF). The investigators describe patients with histologically confirmed cardiac amyloidosis who had significant myocardial dysfunction (LVEF ≤ 40%) despite having normal IVS thickness. Methods All patients with systemic amyloidosis and LVEFs ≤ 40% were analyzed to identify the prevalence of normal IVS thickness. Patients with known histories of cardiomyopathy or coronary artery disease were excluded. Histologic evaluation of tissue included assessment of amyloid burden and average myocyte diameter. Results There were 255 patients with amyloidosis with LVEFs ≤ 40%, of whom seven (3%) had normal IVS thickness and histologic confirmation of cardiac involvement. Of these, six had immunoglobulin light chain amyloidosis, and one had senile amyloidosis. A majority of patients (86%) presented with new-onset cardiac dysfunction associated with edema and/or dyspnea. Electrocardiographic findings included low voltage (43%) and a pseudoinfarct pattern (29%). The 1-year survival from initial tissue diagnosis in the cohort with normal IVS thickness was similar to matched patients with amyloidosis with increased IVS thickness and LVEF ≤ 40% (21% vs 18%, respectively, P =.32). Myocardial tissue amyloid burden and average myocyte diameter were significantly reduced in cases compared with controls. Conclusions Cardiac amyloidosis can uncommonly present with normal IVS thickness despite significant myocardial dysfunction. The prognosis of these patients is as poor as those with increased IVS thickness. Amyloidosis should be considered in the differential diagnosis of patients with cardiomyopathy and reduced LVEFs despite normal IVS thickness.

KW - Amyloid

KW - Cardiomyopathy

KW - Diagnosis

KW - Echocardiography

KW - Heart failure

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U2 - 10.1016/j.echo.2013.12.010

DO - 10.1016/j.echo.2013.12.010

M3 - Article

VL - 27

SP - 440

EP - 447

JO - Journal of the American Society of Echocardiography

JF - Journal of the American Society of Echocardiography

SN - 0894-7317

IS - 4

ER -