1. Cardiac Pathology in Myotonic Dystrophy Type 1
- Author
-
Mani S. Mahadevan, Mahua Mandal, and Ramesh S. Yadava
- Subjects
musculoskeletal diseases ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,RNA splicing ,QH301-705.5 ,sudden death ,Disease ,Review ,Myotonic dystrophy ,Sudden death ,Catalysis ,Inorganic Chemistry ,Cardiac magnetic resonance imaging ,Fibrosis ,Internal medicine ,triplet repeat mutation ,Cardiac conduction ,cardiac pathology ,Animals ,Humans ,Medicine ,Biology (General) ,Physical and Theoretical Chemistry ,Muscular dystrophy ,QD1-999 ,Molecular Biology ,Spectroscopy ,myotonic dystrophy ,medicine.diagnostic_test ,business.industry ,Muscles ,Organic Chemistry ,fibrosis ,RNA foci ,RNA toxicity ,General Medicine ,medicine.disease ,Computer Science Applications ,Chemistry ,fatty infiltration ,cardiac conduction ,Cardiology ,cardiovascular system ,Biomarker (medicine) ,antisense oligonucleotides ,business - Abstract
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.
- Published
- 2021