Skeletal muscle involvement in cardiomyopathies

Area of Science:

• Cardiology
• Neurology
• Genetics

Background:

• Primary cardiomyopathies and primary neuromuscular disorders share molecular, anatomical, and clinical features.
• Skeletal muscle weakness can indicate various underlying conditions, including neuromuscular, mitochondrial, storage, or metabolic disorders.
• Cardiac involvement in neuromuscular disorders may manifest subtly, with heart failure or arrhythmias as the first sign.

Purpose of the Study:

• To highlight the interconnectedness of heart and skeletal muscle disorders.
• To emphasize the importance of early cardiac screening in patients with neuromuscular conditions.
• To guide proactive diagnosis and family evaluation for at-risk individuals.

Main Methods:

• Review of clinical features linking cardiomyopathies and neuromuscular disorders.
• Discussion of diagnostic indicators for skeletal muscle weakness.
• Emphasis on cardiovascular evaluation methods like ECG and echocardiogram.

Main Results:

• Skeletal muscle weakness often precedes cardiomyopathy but can be subtle.
• Early cardiac manifestations include heart failure, conduction defects, and arrhythmias.
• Proactive screening aids in identifying individuals at risk for cardiac events.

Conclusions:

• Cardiologists should actively screen for neuromuscular disorders to enable early diagnosis and family evaluation.
• Identifying at-risk individuals allows for prophylactic treatments such as pacemakers or anticoagulation.
• Integrated care is crucial for managing patients with combined cardiac and skeletal muscle disorders.