Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome

Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, often leading to cardiovascular complications such as aortic aneurysms and mitral valve prolapse. Cardiovascular multimodality imaging plays a crucial role in the diagnosis, monitoring, and management of MFS patients. This revi...

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Main Authors: Marco Alfonso Perrone, Sara Moscatelli, Giulia Guglielmi, Francesco Bianco, Deborah Cappelletti, Amedeo Pellizzon, Andrea Baggiano, Enrico Emilio Diviggiano, Maria Ricci, Pier Paolo Bassareo, Akshyaya Pradhan, Giulia Elena Mandoli, Andrea Cimini, Giuseppe Caminiti
Format: Article
Language:English
Published: MDPI AG 2025-01-01
Series:Diagnostics
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Online Access:https://www.mdpi.com/2075-4418/15/2/172
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author Marco Alfonso Perrone
Sara Moscatelli
Giulia Guglielmi
Francesco Bianco
Deborah Cappelletti
Amedeo Pellizzon
Andrea Baggiano
Enrico Emilio Diviggiano
Maria Ricci
Pier Paolo Bassareo
Akshyaya Pradhan
Giulia Elena Mandoli
Andrea Cimini
Giuseppe Caminiti
author_facet Marco Alfonso Perrone
Sara Moscatelli
Giulia Guglielmi
Francesco Bianco
Deborah Cappelletti
Amedeo Pellizzon
Andrea Baggiano
Enrico Emilio Diviggiano
Maria Ricci
Pier Paolo Bassareo
Akshyaya Pradhan
Giulia Elena Mandoli
Andrea Cimini
Giuseppe Caminiti
author_sort Marco Alfonso Perrone
collection DOAJ
description Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, often leading to cardiovascular complications such as aortic aneurysms and mitral valve prolapse. Cardiovascular multimodality imaging plays a crucial role in the diagnosis, monitoring, and management of MFS patients. This review explores the advancements in echocardiography, cardiovascular magnetic resonance (CMR), cardiac computed tomography (CCT), and nuclear medicine techniques in MFS. Echocardiography remains the first-line tool, essential for assessing aortic root, mitral valve abnormalities, and cardiac function. CMR provides detailed anatomical and functional assessments without radiation exposure, making it ideal for long-term follow-up. CT offers high-resolution imaging of the aorta, crucial for surgical planning, despite its ionizing radiation. Emerging nuclear medicine techniques, though less common, show promise in evaluating myocardial involvement and inflammatory conditions. This review underscores the importance of a comprehensive imaging approach to improve outcomes and guide interventions in MFS patients. It also introduces novel aspects of multimodality approaches, emphasizing their impact on early detection and management of cardiovascular complications in MFS.
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institution Kabale University
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publishDate 2025-01-01
publisher MDPI AG
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series Diagnostics
spelling doaj-art-1b5a2fe437574350b090407c53292a8e2025-01-24T13:28:59ZengMDPI AGDiagnostics2075-44182025-01-0115217210.3390/diagnostics15020172Advances in Cardiovascular Multimodality Imaging in Patients with Marfan SyndromeMarco Alfonso Perrone0Sara Moscatelli1Giulia Guglielmi2Francesco Bianco3Deborah Cappelletti4Amedeo Pellizzon5Andrea Baggiano6Enrico Emilio Diviggiano7Maria Ricci8Pier Paolo Bassareo9Akshyaya Pradhan10Giulia Elena Mandoli11Andrea Cimini12Giuseppe Caminiti13Division of Cardiology and CardioLab, Department of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata, 00133 Rome, ItalyCentre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London WC1N 3JH, UKDepartment of Clinical Sciences and Community Health, University of Milan, 20122 Milan, ItalyDepartment of Cardiovascular Sciences, AOU Ospedali Riuniti, 60126 Ancona, ItalyDepartment of Pediatrics, Marche Polytechnic University of Ancona, 60121 Ancona, ItalyDepartment of Perioperative Cardiology and Cardiovascular Imaging, Centro Cardiologico Monzino IRCCS, 20138 Milan, ItalyDepartment of Perioperative Cardiology and Cardiovascular Imaging, Centro Cardiologico Monzino IRCCS, 20138 Milan, ItalyDivision of Cardiology, Department of Medical Biotechnologies, University of Siena, 53100 Siena, ItalyNuclear Medicine Unit, Cardarelli Hospital, 86100 Campobasso, ItalySchool of Medicine, University College of Dublin, Mater Misericordiae University Hospital, D07 R2WY Dublin, IrelandDepartment of Cardiology, King George’s Medical University, Lucknow 226003, IndiaDivision of Cardiology, Department of Medical Biotechnologies, University of Siena, 53100 Siena, ItalyNuclear Medicine Unit, St. Salvatore Hospital, 67100 L’Aquila, ItalyDepartment of Human Science and Promotion of Quality of Life, San Raffaele Open University, 00163 Rome, ItalyMarfan syndrome (MFS) is a genetic disorder affecting connective tissue, often leading to cardiovascular complications such as aortic aneurysms and mitral valve prolapse. Cardiovascular multimodality imaging plays a crucial role in the diagnosis, monitoring, and management of MFS patients. This review explores the advancements in echocardiography, cardiovascular magnetic resonance (CMR), cardiac computed tomography (CCT), and nuclear medicine techniques in MFS. Echocardiography remains the first-line tool, essential for assessing aortic root, mitral valve abnormalities, and cardiac function. CMR provides detailed anatomical and functional assessments without radiation exposure, making it ideal for long-term follow-up. CT offers high-resolution imaging of the aorta, crucial for surgical planning, despite its ionizing radiation. Emerging nuclear medicine techniques, though less common, show promise in evaluating myocardial involvement and inflammatory conditions. This review underscores the importance of a comprehensive imaging approach to improve outcomes and guide interventions in MFS patients. It also introduces novel aspects of multimodality approaches, emphasizing their impact on early detection and management of cardiovascular complications in MFS.https://www.mdpi.com/2075-4418/15/2/172Marfan syndromecardiovascular multimodality imagingcardiovascular magnetic resonancecomputed tomographyechocardiographynuclear imaging
spellingShingle Marco Alfonso Perrone
Sara Moscatelli
Giulia Guglielmi
Francesco Bianco
Deborah Cappelletti
Amedeo Pellizzon
Andrea Baggiano
Enrico Emilio Diviggiano
Maria Ricci
Pier Paolo Bassareo
Akshyaya Pradhan
Giulia Elena Mandoli
Andrea Cimini
Giuseppe Caminiti
Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome
Diagnostics
Marfan syndrome
cardiovascular multimodality imaging
cardiovascular magnetic resonance
computed tomography
echocardiography
nuclear imaging
title Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome
title_full Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome
title_fullStr Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome
title_full_unstemmed Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome
title_short Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome
title_sort advances in cardiovascular multimodality imaging in patients with marfan syndrome
topic Marfan syndrome
cardiovascular multimodality imaging
cardiovascular magnetic resonance
computed tomography
echocardiography
nuclear imaging
url https://www.mdpi.com/2075-4418/15/2/172
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