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Transthyretin amyloid cardiomyopathy (ATTR-CM) is a life-threatening heart condition historically considered a rare disease. Left untreated, ATTR-CM can lead to heart failure and other heart complications. Several mutations in the TTR gene are associated with the development of the disease. The V122I mutation is the most common variant in the United States, and around 4% of Black Americans carry this mutation.

Research has found that ATTR-CM is more common in men, older adults, and Black individuals. This review, published in Current Cardiovascular Risk Reports, examines racial and ethnic disparities in diagnosing and managing ATTR-CM.

There were multiple key findings from this review. First, proper and early diagnosis is crucial for ensuring the most favorable outcomes for patients with ATTR-CM. However, limited physician awareness of the disease, among other challenges, has made it difficult to diagnose the disease early. Black Americans, especially, may be underdiagnosed, and they may be at high risk of mortality from the condition due to the V122I mutation.

Second, Black patients may have limited resources and access that prevent them from obtaining disease-modifying ATTR treatment. Moreover, they have been underrepresented in clinical trials testing the efficacy of treatments for ATTR-CM. The ATTR-ACT trial, which studied the efficacy of the relatively new medication tafamidis, did not include any participation from medical centers in Africa. The majority of patients were from the United States, Germany, Italy, France, and Japan.

Finally, Black patients may have worse outcomes from ATTR-CM. Black patients with heart failure with preserved ejection fraction (HFpEF) may also not be thoroughly assessed for causes other than hypertensive heart disease.

This review concluded that cardiac scintigraphy and epigenetic evaluations are important tools that may help improve the diagnosis of Black individuals with ATTR-CM. Moreover, it advocates for greater treatment accessibility and inclusion of Black patients in ATTR-CM clinical trials as being paramount to treatment success in this patient population [1].

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[1] Spencer-Bonilla, G., Njoroge, J. N., Pearson, K., Witteles, R. M., Aras, M. A., & Alexander, K. M. (2021). Racial and ethnic disparities in transthyretin cardiac amyloidosis. Current Cardiovascular Risk Reports, 15(6). https://doi.org/10.1007/s12170-021-00670-y

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