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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Cardiac amyloidosis: new insights into diagnosis and management
Shervin Eshaghian1, Sanjay Kaul, Prediman K Shah
1Division of Cardiology, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Insights
Cardiac amyloidosis, a progressive heart condition, causes heart failure and arrhythmias due to amyloid buildup. Early diagnosis and understanding its pathophysiology enable targeted therapies for better patient outcomes.
Area of Science:
- Cardiology
- Pathophysiology
- Medical Diagnostics
Background:
- Amyloidosis impacting the heart leads to severe conditions like congestive heart failure, arrhythmias, and potentially death.
- Cardiac amyloidosis typically manifests as diastolic heart failure, stemming from restrictive cardiomyopathy.
- Amyloid infiltration results in a thickened, stiff heart wall, impairing cardiac relaxation and diastolic compliance.
Purpose of the Study:
- To summarize the clinical presentation and diagnostic findings of cardiac amyloidosis.
- To highlight the progression of cardiac dysfunction caused by amyloid infiltration.
- To underscore the importance of understanding amyloid pathophysiology for targeted therapeutic strategies.
Main Methods:
- Review of clinical signs and symptoms associated with cardiac amyloidosis.
- Analysis of characteristic echocardiographic findings in affected patients.
- Discussion of recent advancements in differentiating amyloid types based on pathophysiology.
Main Results:
- Common symptoms include progressive dyspnea, chest discomfort, and weight loss (cardiac cachexia).
- Echocardiography reveals nondilated ventricles, concentric left ventricular thickening, right ventricular thickening, prominent valves, dilated atria, and thickened interatrial septum.
- Pathophysiological understanding allows for differentiation of amyloid types.
Conclusions:
- Cardiac amyloidosis is a progressive disease with significant impact on heart function.
- Distinct echocardiographic features aid in diagnosis.
- Advances in understanding amyloid pathophysiology are crucial for developing targeted treatments.
Abstract:
When amyloidosis affects the heart, a devastating and progressive process can lead to congestive heart failure, arrhythmias, conduction abnormalities, angina, and death. The signs and symptoms of cardiac amyloidosis are generally dominated by diastolic heart failure resulting from restrictive cardiomyopathy. Amyloid infiltration of the heart initially causes mild diastolic dysfunction, but late disease produces a thickened heart wall with a firm and rubbery consistency, which worsens cardiac relaxation and diastolic compliance. Patients usually complain of progressive dyspnea from congestive heart failure, chest discomfort secondary to microvascular involvement, and weight loss, which might be a manifestation of cardiac cachexia. Echocardiographic findings include nondilated ventricles with concentric left ventricular thickening, right ventricular thickening, prominent valves, dilated atria, and thickening of the interatrial septum. Recent advances in our understanding of the pathophysiology of amyloid have allowed the various types to be differentiated, which has led to targeted therapy for each unique pathophysiologic process.
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