The role of cardiac magnetic resonance in assessing the cardiac involvement in Gaucher type 1 patients: Morphological and functional evaluations

A. Roghi, E. Poggiali, E. Cassinerio, P. Pedrotti, M. Giuditta, A. Milazzo, G. Quattrocchi, M.D. Cappellini

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background Type 1 Gaucher disease (GD1) is the most common lysosomal disorder, characterized by the accumulation of beta-glucocerebroside into the macrophages of several organs. Cardiac involvement is rare and referred to as restrictive cardiomyopathy, pulmonary hypertension, and calcifications of the valves and the aortic arch. Aim To assess the cardiovascular status by cardiac magnetic resonance, including evaluation of tissue characterization, in GD1 patients. Methods Nine GD1 patients were recruited at the Tertiary Care Centre for Rare Diseases at Ca' Granda Foundation IRCCS Hospital, Milan. The patients' records were available for a mean time of 6 W 3 years. Medical history of cardiac disease and cardiovascular risk factors were surveyed by direct interview. Patients were scanned with a 1.5 Avanto Siemens using a comprehensive cardiovascular evaluation protocol, including morphologic and functional sequences with gadolinium contrast media, to assess early and late enhancement (late gadolinium enhancement). Echocardiography was performed to study the cardiac morphology and function, including the measurement of pulmonary pressure. Results Three patients showed left atrial enlargement, one patient showed moderate aortic stenosis in bicuspid valve with mild aortic dilatation, and one patient showed moderate mitral regurgitation. No evidence of myocardial late gadolinium enhancement was detected after gadolinium contrast media. Seven patients received enzyme replacement therapy for a median of 1 year, and two patients were evaluated at diagnosis. Conclusion Although cardiac disease in Gaucher disease is considered rare and associated with particular genotypes, we have found two valvular diseases and mild left atrial enlargement in three out of nine patients. Further studies to evaluate the prognostic value of these findings are warranted. © 2017 Italian Federation of Cardiology. All rights reserved.
Original languageEnglish
Pages (from-to)244-248
Number of pages5
JournalJournal of Cardiovascular Medicine
Volume18
Issue number4
DOIs
Publication statusPublished - 2017

Fingerprint

Magnetic Resonance Spectroscopy
Gadolinium
Gaucher Disease
Contrast Media
Heart Diseases
Restrictive Cardiomyopathy
Glucosylceramides
Enzyme Replacement Therapy
Aortic Valve Stenosis
Mitral Valve Insufficiency
Rare Diseases
Cardiology
Thoracic Aorta
Mitral Valve
Pulmonary Hypertension
Tertiary Care Centers
Echocardiography
Dilatation
Macrophages
Genotype

Keywords

  • Cardiac disease
  • Gaucher disease
  • Heart valve
  • MRI
  • gadolinium
  • contrast medium
  • gadobutrol
  • glucosylceramidase
  • imiglucerase
  • organometallic compound
  • adult
  • aorta stenosis
  • aortic dilatation
  • Article
  • cardiovascular magnetic resonance
  • cardiovascular risk
  • clinical article
  • clinical evaluation
  • cohort analysis
  • contrast enhancement
  • controlled study
  • disease association
  • echocardiography
  • enzyme replacement
  • female
  • functional assessment
  • genotype
  • health status
  • health survey
  • heart atrium enlargement
  • heart dilatation
  • heart disease
  • heart function
  • human
  • interview
  • Italy
  • lung pressure
  • male
  • medical history
  • mitral valve
  • mitral valve regurgitation
  • morphology
  • myocardial infiltration
  • nuclear magnetic resonance scanner
  • prognosis
  • pulmonary hypertension
  • risk factor
  • splenectomy
  • tertiary care center
  • valvular heart disease
  • aortic valve
  • aortic valve stenosis
  • cardiomegaly
  • cine magnetic resonance imaging
  • complication
  • diagnostic imaging
  • heart left ventricle function
  • heart right ventricle function
  • heart stroke volume
  • middle aged
  • Mitral Valve Insufficiency
  • pathophysiology
  • predictive value
  • time factor
  • treatment outcome
  • Adult
  • Aortic Valve
  • Aortic Valve Stenosis
  • Cardiomegaly
  • Contrast Media
  • Echocardiography
  • Enzyme Replacement Therapy
  • Female
  • Gaucher Disease
  • Glucosylceramidase
  • Humans
  • Magnetic Resonance Imaging, Cine
  • Male
  • Middle Aged
  • Mitral Valve
  • Organometallic Compounds
  • Predictive Value of Tests
  • Stroke Volume
  • Tertiary Care Centers
  • Time Factors
  • Treatment Outcome
  • Ventricular Function, Left
  • Ventricular Function, Right

Cite this

The role of cardiac magnetic resonance in assessing the cardiac involvement in Gaucher type 1 patients: Morphological and functional evaluations. / Roghi, A.; Poggiali, E.; Cassinerio, E.; Pedrotti, P.; Giuditta, M.; Milazzo, A.; Quattrocchi, G.; Cappellini, M.D.

In: Journal of Cardiovascular Medicine, Vol. 18, No. 4, 2017, p. 244-248.

Research output: Contribution to journalArticle

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T1 - The role of cardiac magnetic resonance in assessing the cardiac involvement in Gaucher type 1 patients: Morphological and functional evaluations

AU - Roghi, A.

AU - Poggiali, E.

AU - Cassinerio, E.

AU - Pedrotti, P.

AU - Giuditta, M.

AU - Milazzo, A.

AU - Quattrocchi, G.

AU - Cappellini, M.D.

N1 - Export Date: 6 February 2018 Correspondence Address: Roghi, A.; CMR Unit, Department of Cardiology, Niguarda Ca' Granda HospitalItaly; email: alberto.roghi@gmail.com

PY - 2017

Y1 - 2017

N2 - Background Type 1 Gaucher disease (GD1) is the most common lysosomal disorder, characterized by the accumulation of beta-glucocerebroside into the macrophages of several organs. Cardiac involvement is rare and referred to as restrictive cardiomyopathy, pulmonary hypertension, and calcifications of the valves and the aortic arch. Aim To assess the cardiovascular status by cardiac magnetic resonance, including evaluation of tissue characterization, in GD1 patients. Methods Nine GD1 patients were recruited at the Tertiary Care Centre for Rare Diseases at Ca' Granda Foundation IRCCS Hospital, Milan. The patients' records were available for a mean time of 6 W 3 years. Medical history of cardiac disease and cardiovascular risk factors were surveyed by direct interview. Patients were scanned with a 1.5 Avanto Siemens using a comprehensive cardiovascular evaluation protocol, including morphologic and functional sequences with gadolinium contrast media, to assess early and late enhancement (late gadolinium enhancement). Echocardiography was performed to study the cardiac morphology and function, including the measurement of pulmonary pressure. Results Three patients showed left atrial enlargement, one patient showed moderate aortic stenosis in bicuspid valve with mild aortic dilatation, and one patient showed moderate mitral regurgitation. No evidence of myocardial late gadolinium enhancement was detected after gadolinium contrast media. Seven patients received enzyme replacement therapy for a median of 1 year, and two patients were evaluated at diagnosis. Conclusion Although cardiac disease in Gaucher disease is considered rare and associated with particular genotypes, we have found two valvular diseases and mild left atrial enlargement in three out of nine patients. Further studies to evaluate the prognostic value of these findings are warranted. © 2017 Italian Federation of Cardiology. All rights reserved.

AB - Background Type 1 Gaucher disease (GD1) is the most common lysosomal disorder, characterized by the accumulation of beta-glucocerebroside into the macrophages of several organs. Cardiac involvement is rare and referred to as restrictive cardiomyopathy, pulmonary hypertension, and calcifications of the valves and the aortic arch. Aim To assess the cardiovascular status by cardiac magnetic resonance, including evaluation of tissue characterization, in GD1 patients. Methods Nine GD1 patients were recruited at the Tertiary Care Centre for Rare Diseases at Ca' Granda Foundation IRCCS Hospital, Milan. The patients' records were available for a mean time of 6 W 3 years. Medical history of cardiac disease and cardiovascular risk factors were surveyed by direct interview. Patients were scanned with a 1.5 Avanto Siemens using a comprehensive cardiovascular evaluation protocol, including morphologic and functional sequences with gadolinium contrast media, to assess early and late enhancement (late gadolinium enhancement). Echocardiography was performed to study the cardiac morphology and function, including the measurement of pulmonary pressure. Results Three patients showed left atrial enlargement, one patient showed moderate aortic stenosis in bicuspid valve with mild aortic dilatation, and one patient showed moderate mitral regurgitation. No evidence of myocardial late gadolinium enhancement was detected after gadolinium contrast media. Seven patients received enzyme replacement therapy for a median of 1 year, and two patients were evaluated at diagnosis. Conclusion Although cardiac disease in Gaucher disease is considered rare and associated with particular genotypes, we have found two valvular diseases and mild left atrial enlargement in three out of nine patients. Further studies to evaluate the prognostic value of these findings are warranted. © 2017 Italian Federation of Cardiology. All rights reserved.

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KW - Gaucher disease

KW - Heart valve

KW - MRI

KW - gadolinium

KW - contrast medium

KW - gadobutrol

KW - glucosylceramidase

KW - imiglucerase

KW - organometallic compound

KW - adult

KW - aorta stenosis

KW - aortic dilatation

KW - Article

KW - cardiovascular magnetic resonance

KW - cardiovascular risk

KW - clinical article

KW - clinical evaluation

KW - cohort analysis

KW - contrast enhancement

KW - controlled study

KW - disease association

KW - echocardiography

KW - enzyme replacement

KW - female

KW - functional assessment

KW - genotype

KW - health status

KW - health survey

KW - heart atrium enlargement

KW - heart dilatation

KW - heart disease

KW - heart function

KW - human

KW - interview

KW - Italy

KW - lung pressure

KW - male

KW - medical history

KW - mitral valve

KW - mitral valve regurgitation

KW - morphology

KW - myocardial infiltration

KW - nuclear magnetic resonance scanner

KW - prognosis

KW - pulmonary hypertension

KW - risk factor

KW - splenectomy

KW - tertiary care center

KW - valvular heart disease

KW - aortic valve

KW - aortic valve stenosis

KW - cardiomegaly

KW - cine magnetic resonance imaging

KW - complication

KW - diagnostic imaging

KW - heart left ventricle function

KW - heart right ventricle function

KW - heart stroke volume

KW - middle aged

KW - Mitral Valve Insufficiency

KW - pathophysiology

KW - predictive value

KW - time factor

KW - treatment outcome

KW - Adult

KW - Aortic Valve

KW - Aortic Valve Stenosis

KW - Cardiomegaly

KW - Contrast Media

KW - Echocardiography

KW - Enzyme Replacement Therapy

KW - Female

KW - Gaucher Disease

KW - Glucosylceramidase

KW - Humans

KW - Magnetic Resonance Imaging, Cine

KW - Male

KW - Middle Aged

KW - Mitral Valve

KW - Organometallic Compounds

KW - Predictive Value of Tests

KW - Stroke Volume

KW - Tertiary Care Centers

KW - Time Factors

KW - Treatment Outcome

KW - Ventricular Function, Left

KW - Ventricular Function, Right

U2 - 10.2459/JCM.0000000000000326

DO - 10.2459/JCM.0000000000000326

M3 - Article

VL - 18

SP - 244

EP - 248

JO - Journal of Cardiovascular Medicine

JF - Journal of Cardiovascular Medicine

SN - 1558-2027

IS - 4

ER -