Prevalence of atrial fibrillation in myotonic dystrophy type 1: A systematic review

Russo, Vincenzo; Papa, Andrea Antonio; Lioncino, Michele; Rago, Anna; Fraia, Francesco Di; Palladino, Alberto; Politano, Luisa; Golino, Paolo; Nigro, Gerardo

doi:10.1016/j.nmd.2021.01.002

Cited by 10 publications

(9 citation statements)

References 36 publications

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“…Both atrial and ventricular arrhythmias can occur with DM1. Atrial fibrillation, atrial flutter and atrial tachycardia are the most common, affecting approximately one-quarter of DM1 patients ( Wahbi et al, 2016 ; Russo et al, 2021 ). Our differentiation method allows us to also investigate atrial specific electrical alterations in DM1 in sight to atrial involvement in these patients.…”

Section: Discussionmentioning

confidence: 99%

“…Other ECG abnormalities, including bundle branch blocks and prolongation of the QRS interval, are also common. Atrial fibrillation and flutter have an estimated prevalence of 11% and 8.5%, respectively ( Wahbi et al, 2016 ; Russo et al, 2021 ). Structural abnormalities such as left ventricular hypertrophy contribute to cardiac dysfunction ( Wahbi and Furling, 2020 ; Mahadevan et al, 2021 ; Russo et al, 2023 ).…”

Section: Introductionmentioning

confidence: 99%

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Cardiac involvement in patient-specific induced pluripotent stem cells of myotonic dystrophy type 1: unveiling the impact of voltage-gated sodium channels

Pierre,

Djemai,

Chapotte-Baldacci

et al. 2023

Front. Physiol.

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Myotonic dystrophy type 1 (DM1) is a genetic disorder that causes muscle weakness and myotonia. In DM1 patients, cardiac electrical manifestations include conduction defects and atrial fibrillation. DM1 results in the expansion of a CTG transcribed into CUG-containing transcripts that accumulate in the nucleus as RNA foci and alter the activity of several splicing regulators. The underlying pathological mechanism involves two key RNA-binding proteins (MBNL and CELF) with expanded CUG repeats that sequester MBNL and alter the activity of CELF resulting in spliceopathy and abnormal electrical activity. In the present study, we identified two DM1 patients with heart conduction abnormalities and characterized their hiPSC lines. Two differentiation protocols were used to investigate both the ventricular and the atrial electrophysiological aspects of DM1 and unveil the impact of the mutation on voltage-gated ion channels, electrical activity, and calcium homeostasis in DM1 cardiomyocytes derived from hiPSCs. Our analysis revealed the presence of molecular hallmarks of DM1, including the accumulation of RNA foci and sequestration of MBNL1 in DM1 hiPSC-CMs. We also observed mis-splicing of SCN5A and haploinsufficiency of DMPK. Furthermore, we conducted separate characterizations of atrial and ventricular electrical activity, conduction properties, and calcium homeostasis. Both DM1 cell lines exhibited reduced density of sodium and calcium currents, prolonged action potential duration, slower conduction velocity, and impaired calcium transient propagation in both ventricular and atrial cardiomyocytes. Notably, arrhythmogenic events were recorded, including both ventricular and atrial arrhythmias were observed in the two DM1 cell lines. These findings enhance our comprehension of the molecular mechanisms underlying DM1 and provide valuable insights into the pathophysiology of ventricular and atrial involvement.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Cardiac involvement in patient-specific induced pluripotent stem cells of myotonic dystrophy type 1: unveiling the impact of voltage-gated sodium channels

Pierre,

Djemai,

Chapotte-Baldacci

et al. 2023

Front. Physiol.

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“…AF has a prevalence of 11% in MD1 patients, about 70-fold higher than the general population [22]. If we consider cardiac-implanted electronic device-detected AF events, this value increases to 25% [23][24][25].…”

Section: Atrial Fibrillation (Af)mentioning

confidence: 97%

Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network

Russo,

Antonini,

Massa

et al. 2024

JCDD

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Myotonic dystrophy is a hereditary disorder with systemic involvement. The Italian Neuro-Cardiology Network (INCN-RNC) is a unique collaborative experience involving neurology units combined with cardio-arrhythmology units. The INCN facilitates the creation of integrated neuro-cardiac teams in Neuromuscular Disease Centers for the management of cardiovascular involvement in the treatment of myotonic dystrophy type 1 (MD1).

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“…Atrial fibrillation and atrial flutter have an estimated prevalence of 10.9%. and 8.5%, respectively in DM1 [ 47 , 48 ]. Management of atrial arrhythmias in this population is the same as current standard-of-care practices.…”

Section: Atrial Arrhythmiasmentioning

confidence: 99%

Cardiac Involvement and Arrhythmias Associated with Myotonic Dystrophy

McBride¹,

Deshmukh²,

Shore³

et al. 2022

Rev. Cardiovasc. Med.

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Myotonic dystrophy is an autosomal dominant genetic disease of nucleotide expansion resulting in neuromuscular disease with two distinct subtypes. There are significant systemic manifestations of this condition including progressive muscular decline, neurologic abnormalities, and cardiac disease. Given the higher prevalence of cardiac dysfunction compared to the general population, there is significant interest in early diagnosis and prevention of cardiac morbidity and mortality. Cardiac dysfunction has an origin in abnormal and unstable nucleotide repeats in the DMPK and CNBP genes which have downstream effects leading to an increased propensity for arrhythmias and left ventricular systolic dysfunction. Current screening paradigms involve the use of routine screening electrocardiograms, ambulatory electrocardiographic monitors, and cardiac imaging to stratify risk and suggest further invasive evaluation. The most common cardiac abnormality is atrial arrhythmia, however there is significant mortality in this population from high-degree atrioventricular block and ventricular arrhythmia. In this review, we describe the cardiac manifestations of myotonic dystrophy with an emphasis on arrhythmia which is the second most common cause of death in this population after respiratory failure.

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Prevalence of atrial fibrillation in myotonic dystrophy type 1: A systematic review

Cited by 10 publications

References 36 publications

Cardiac involvement in patient-specific induced pluripotent stem cells of myotonic dystrophy type 1: unveiling the impact of voltage-gated sodium channels

Cardiac involvement in patient-specific induced pluripotent stem cells of myotonic dystrophy type 1: unveiling the impact of voltage-gated sodium channels

Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network

Cardiac Involvement and Arrhythmias Associated with Myotonic Dystrophy

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