Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy

McNally, Elizabeth M.; Mann, Douglas L.; Pinto, Yigal M.; Bhakta, Deepak; Tomaselli, Gordon F.; Nazarian, Saman; Groh, William J.; Tamura, Takuhisa; Duboc, Denis; Itoh, Hideki; Hellerstein, Leah; Mammen, Pradeep P.A.

doi:10.1161/jaha.119.014006

Cited by 41 publications

(46 citation statements)

References 52 publications

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“…DM1 patients need regular cardiac surveillance and if needed, pacemaker placement or other interventions. Cardiac pump malfunction can also be seen in DM1 [ 21 ].…”

Section: Clinical Featuresmentioning

confidence: 99%

Myotonic Dystrophies: A Genetic Overview

Soltanzadeh

2022

Genes

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Myotonic dystrophies (DM) are the most common muscular dystrophies in adults, which can affect other non-skeletal muscle organs such as the heart, brain and gastrointestinal system. There are two genetically distinct types of myotonic dystrophy: myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2), both dominantly inherited with significant overlap in clinical manifestations. DM1 results from CTG repeat expansions in the 3′-untranslated region (3′UTR) of the DMPK (dystrophia myotonica protein kinase) gene on chromosome 19, while DM2 is caused by CCTG repeat expansions in intron 1 of the CNBP (cellular nucleic acid-binding protein) gene on chromosome 3. Recent advances in genetics and molecular biology, especially in the field of RNA biology, have allowed better understanding of the potential pathomechanisms involved in DM. In this review article, core clinical features and genetics of DM are presented followed by a discussion on the current postulated pathomechanisms and therapeutic approaches used in DM, including the ones currently in human clinical trial phase.

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“…DM1 patients need regular cardiac surveillance and if needed, pacemaker placement or other interventions. Cardiac pump malfunction can also be seen in DM1 [ 21 ].…”

Section: Clinical Featuresmentioning

confidence: 99%

Myotonic Dystrophies: A Genetic Overview

Soltanzadeh

2022

Genes

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“…Given the high incidence of cardiac disease (up to 75% of patients) and the risk for sudden death, proper care could be lifesaving. In 2020, the Journal of the American Heart Association published a consensus guideline from worldwide experts, for cardiologists caring for DM1 patients [ 131 ]. One of the main points was that cardiac manifestations can precede other aspects of the disease including skeletal muscle phenotypes such as weakness and myotonia.…”

Section: Clinical Care Guidelines For the Management Of Cardiac Issues In Dm1mentioning

confidence: 99%

Cardiac Pathology in Myotonic Dystrophy Type 1

Mahadevan

Yadava

Mandal

2021

IJMS

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Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy affecting adults and children, is a multi-systemic disorder affecting skeletal, cardiac, and smooth muscles as well as neurologic, endocrine and other systems. This review is on the cardiac pathology associated with DM1. The heart is one of the primary organs affected in DM1. Cardiac conduction defects are seen in up to 75% of adult DM1 cases and sudden death due to cardiac arrhythmias is one of the most common causes of death in DM1. Unfortunately, the pathogenesis of cardiac manifestations in DM1 is ill defined. In this review, we provide an overview of the history of cardiac studies in DM1, clinical manifestations, and pathology of the heart in DM1. This is followed by a discussion of emerging data about the utility of cardiac magnetic resonance imaging (CMR) as a biomarker for cardiac disease in DM1, and ends with a discussion on models of cardiac RNA toxicity in DM1 and recent clinical guidelines for cardiologic management of individuals with DM1.

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“…Echocardiography or CMR is recommended upon the diagnosis of NMD due to the possibility of an low-symptomatic course of cardiac involvement. If no abnormalities are found, imaging should be repeated anually or ever 1-5 years [4,14]. Due to concomitant chest deformities and poor acoustic windows, mostly in DMD, echocardiography is often not fully diagnostic and CMR is warranted.…”

Section: Cardiac Tests In Patients With Nmdmentioning

confidence: 99%

Diagnostyka kardiologiczna u chorych z chorobami nerwowo-mięśniowymi

Marchel¹,

Ostrowska²,

Wysińska³

et al. 2020

Folia Cardiologica

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Cardiac involvement in neuromuscular disease most often manifests with cardiomyopathy, atrioventricular conduction disturbances, and supraventricular and ventricular tachyarrhythmias, accompanied by heart failure in some patients. The phenotype of cardiac involvement, and to a large extent also the symptoms and the timing of their occurrence, depend on the genetic background of the neurological disease, hence the importance of genetic testing. Knowledge of the proper neurological diagnosis supported by genetic testing results allows for targeted cardiological investigations. Non-invasive imaging modalities (echocardiography, cardiac magnetic resonance) and cardiac rhythm monitoring using electrocardiography allow the assessment of myocardial involvement progression and implementation of appropriate treatment. In addition, they enable identification of asymptomatic patients at an early disease stage and prevention of future sudden cardiac death.

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Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy

Cited by 41 publications

References 52 publications

Myotonic Dystrophies: A Genetic Overview

Myotonic Dystrophies: A Genetic Overview

Cardiac Pathology in Myotonic Dystrophy Type 1

Diagnostyka kardiologiczna u chorych z chorobami nerwowo-mięśniowymi

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