Spectrum of Restrictive and Infiltrative Cardiomyopathies: Part 1 of a 2-Part Series

Area of Science:

• Cardiology
• Genetics
• Pathology

Background:

• Restrictive cardiomyopathies are the least common heart muscle diseases.
• They encompass infiltrative, noninfiltrative, storage, and endomyocardial disorders.
• Genetic forms often manifest in childhood, but adult-onset cases are increasingly recognized.

Purpose of the Study:

• To review the diagnosis and management of restrictive cardiomyopathies.
• To highlight the growing recognition of cardiac amyloidosis in elderly patients with heart failure with preserved ejection fraction.
• To emphasize the shift towards noninvasive diagnostic methods.

Main Methods:

• Review of current literature and diagnostic approaches for restrictive cardiomyopathies.
• Focus on noninvasive evaluation techniques.
• Discussion of specific etiologies like amyloidosis, storage disorders, and sarcoidosis.

Main Results:

• Elderly patients with preserved ejection fraction heart failure are increasingly diagnosed with restrictive cardiomyopathy, particularly cardiac amyloidosis.
• Noninvasive evaluation has largely replaced endomyocardial biopsy for diagnosis.
• Identification of infiltrative cardiomyopathies (e.g., amyloidosis, storage disorders, sarcoidosis) enables disease-specific therapies.

Conclusions:

• Restrictive cardiomyopathies, though rare, require careful diagnosis, especially in older adults.
• Noninvasive imaging and diagnostic tools are crucial for identifying various etiologies.
• Timely, disease-specific treatments can significantly improve patient outcomes.