Muscle Involvement and Restricted Disorders

Darras, Basil T.; Volpe, Joseph J.

doi:10.1016/b978-0-323-42876-7.00033-8

Cited by 4 publications

(1 citation statement)

References 655 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Multi-system organ dysfunction is more prevalent in classical disease [23]. Childhood and congenital disease can be more severe, with weakness and multi-organ system dysfunction notable from utero, with polyhydramnios and hypotonia, to adolescence with early onset respiratory dysfunction and weakness [24][25][26]. Based on Dutch registry data, life expectancy in DM1 is estimated at approximately 60 years for both males and females [27].…”

Section: Clinical Characteristicsmentioning

confidence: 99%

Cardiac Involvement and Arrhythmias Associated with Myotonic Dystrophy

McBride¹,

Deshmukh²,

Shore³

et al. 2022

Rev. Cardiovasc. Med.

View full text Add to dashboard Cite

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.

show abstract

Section: Clinical Characteristicsmentioning

confidence: 99%