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ATTR Epidemiology, Genetics, and Prognostic Factors
Chukwuemeka A Obi1, William C Mostertz1, Jan M Griffin1,2
1Division of Cardiology, Medical University of South Carolina, Charleston, South Carolina, US.
Methodist Debakey Cardiovascular Journal
|April 13, 2022
Summary
Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed heart condition. Early diagnosis using cardiac scintigraphy is crucial for managing heart failure and conduction abnormalities caused by TTR protein buildup.
Area of Science:
- Cardiology
- Genetics
- Protein Misfolding Diseases
Background:
- Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed cause of heart failure.
- It results from the accumulation of misfolded transthyretin (TTR) protein fibrils.
- ATTR-CM presents in hereditary and wild-type forms with diverse clinical manifestations.
Purpose of the Study:
- To highlight the underdiagnosis and underestimation of ATTR-CM.
- To discuss the pathophysiology of TTR protein aggregation in the heart.
- To emphasize the importance of early diagnosis for prognosis.
Main Methods:
- Review of existing literature on ATTR-CM.
- Discussion of genetic variants (e.g., Val122Ile, Leu111Met) associated with hereditary ATTR-CM.
- Emphasis on cardiac scintigraphy as a noninvasive diagnostic tool.
Main Results:
- ATTR-CM presents heterogeneously, affecting cardiac, neuropathic, or both systems.
- Specific TTR gene variants and geographical factors influence disease presentation.
- Cardiac scintigraphy is improving ATTR-CM recognition.
Conclusions:
- Early recognition of cardiac infiltration in ATTR-CM is vital for patient outcomes.
- Understanding phenotypic heterogeneity is key to managing the disease.
- Further research into wild-type ATTR contributing factors is needed.
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