Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine

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Abstract

Duchenne's muscular dystrophy is an X-linked neuromuscular disease that manifests as muscle atrophy and cardiomyopathy in young boys. However, a considerable percentage of carrier females are often diagnosed with cardiomyopathy at an advanced stage. Existing therapy is not disease-specific and has limited effect, thus many patients and symptomatic carrier females prematurely die due to heart failure. Early detection is one of the major challenges that muscular dystrophy patients, carrier females, family members and, research and medical teams face in the complex course of dystrophic cardiomyopathy management. Despite the widespread adoption of advanced imaging modalities such as cardiac magnetic resonance, there is much scope for refining the diagnosis and treatment of dystrophic cardiomyopathy. This comprehensive review will focus on the pertinent clinical aspects of cardiac disease in muscular dystrophy while also providing a detailed consideration of the known and developing concepts in the pathophysiology of muscular dystrophy and forthcoming therapeutic options.
Original languageEnglish
JournalJournal of Clinical Medicine
Volume7
Issue number9
DOIs
Publication statusPublished - Sep 19 2018

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Dystrophin
Precision Medicine
Molecular Evolution
Cardiomyopathies
Muscular Dystrophies
Neuromuscular Diseases
Muscular Atrophy
Duchenne Muscular Dystrophy
Heart Diseases
Magnetic Resonance Spectroscopy
Therapeutics
Heart Failure

Cite this

@article{49f4df967461440284a642ef937b8291,
title = "Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine",
abstract = "Duchenne's muscular dystrophy is an X-linked neuromuscular disease that manifests as muscle atrophy and cardiomyopathy in young boys. However, a considerable percentage of carrier females are often diagnosed with cardiomyopathy at an advanced stage. Existing therapy is not disease-specific and has limited effect, thus many patients and symptomatic carrier females prematurely die due to heart failure. Early detection is one of the major challenges that muscular dystrophy patients, carrier females, family members and, research and medical teams face in the complex course of dystrophic cardiomyopathy management. Despite the widespread adoption of advanced imaging modalities such as cardiac magnetic resonance, there is much scope for refining the diagnosis and treatment of dystrophic cardiomyopathy. This comprehensive review will focus on the pertinent clinical aspects of cardiac disease in muscular dystrophy while also providing a detailed consideration of the known and developing concepts in the pathophysiology of muscular dystrophy and forthcoming therapeutic options.",
author = "Domenico D'Amario and Aoife Gowran and Francesco Canonico and Elisa Castiglioni and Davide Rovina and Rosaria Santoro and Pietro Spinelli and Rachele Adorisio and Antonio Amodeo and Perrucci, {Gianluca Lorenzo} and Borovac, {Josip A} and Giulio Pompilio and Filippo Crea",
year = "2018",
month = "9",
day = "19",
doi = "10.3390/jcm7090291",
language = "English",
volume = "7",
journal = "Journal of Clinical Medicine",
issn = "2077-0383",
publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",
number = "9",

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TY - JOUR

T1 - Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine

AU - D'Amario, Domenico

AU - Gowran, Aoife

AU - Canonico, Francesco

AU - Castiglioni, Elisa

AU - Rovina, Davide

AU - Santoro, Rosaria

AU - Spinelli, Pietro

AU - Adorisio, Rachele

AU - Amodeo, Antonio

AU - Perrucci, Gianluca Lorenzo

AU - Borovac, Josip A

AU - Pompilio, Giulio

AU - Crea, Filippo

PY - 2018/9/19

Y1 - 2018/9/19

N2 - Duchenne's muscular dystrophy is an X-linked neuromuscular disease that manifests as muscle atrophy and cardiomyopathy in young boys. However, a considerable percentage of carrier females are often diagnosed with cardiomyopathy at an advanced stage. Existing therapy is not disease-specific and has limited effect, thus many patients and symptomatic carrier females prematurely die due to heart failure. Early detection is one of the major challenges that muscular dystrophy patients, carrier females, family members and, research and medical teams face in the complex course of dystrophic cardiomyopathy management. Despite the widespread adoption of advanced imaging modalities such as cardiac magnetic resonance, there is much scope for refining the diagnosis and treatment of dystrophic cardiomyopathy. This comprehensive review will focus on the pertinent clinical aspects of cardiac disease in muscular dystrophy while also providing a detailed consideration of the known and developing concepts in the pathophysiology of muscular dystrophy and forthcoming therapeutic options.

AB - Duchenne's muscular dystrophy is an X-linked neuromuscular disease that manifests as muscle atrophy and cardiomyopathy in young boys. However, a considerable percentage of carrier females are often diagnosed with cardiomyopathy at an advanced stage. Existing therapy is not disease-specific and has limited effect, thus many patients and symptomatic carrier females prematurely die due to heart failure. Early detection is one of the major challenges that muscular dystrophy patients, carrier females, family members and, research and medical teams face in the complex course of dystrophic cardiomyopathy management. Despite the widespread adoption of advanced imaging modalities such as cardiac magnetic resonance, there is much scope for refining the diagnosis and treatment of dystrophic cardiomyopathy. This comprehensive review will focus on the pertinent clinical aspects of cardiac disease in muscular dystrophy while also providing a detailed consideration of the known and developing concepts in the pathophysiology of muscular dystrophy and forthcoming therapeutic options.

U2 - 10.3390/jcm7090291

DO - 10.3390/jcm7090291

M3 - Article

VL - 7

JO - Journal of Clinical Medicine

JF - Journal of Clinical Medicine

SN - 2077-0383

IS - 9

ER -