A genetic mutation that raises the risk for transthyretin amyloid cardiomyopathy (ATTR-CM) was found more often in Hispanic adults with African ancestry, especially those of Dominican descent, according to a large population-based study published recently in JACC: Advances.
“Although the Val122Ile variant is rare among H/L [Hispanic/Latino] individuals, those of Dominican descent are more likely to carry the Val122Ile variant and thus may be more at risk for hATTR-CM compared to other H/L background groups, highlighting opportunities for preventative hATTR-CM screening,” explained the study’s authors.
Among more than 12,600 Hispanic/Latino adults who participated in the Hispanic Community Health Study/Study of Latinos, 0.82% carried the Val122Ile variant. Though the Val122Ile gene variant was uncommon overall, it appeared in nearly one out of every 40 Dominican adults studied.
The variant has been previously linked to ATTR-CM in people of West African descent, but until now had not been well studied in Hispanic populations, who often have a mix of African, European and Amerindian ancestry.
Read more about causes and risk factors for ATTR-CM
In this study, individuals with more than 50% African ancestry had nearly eight times the odds of carrying the Val122Ile variant compared with those with less than 30%. Every 1% increase in African ancestry raised the odds by 4%. In contrast, more European or Amerindian ancestry was linked to lower odds of carrying the variant.
Val122Ile carriers had higher systolic and diastolic blood pressure, were more likely to have hypertension, and trended toward higher rates of heart failure than noncarriers, though differences in heart structure or function on echocardiogram were not significant. In the subgroup with heart imaging, the variant was found in 0.77% of participants, especially in those of Dominican background.
These results highlight the importance of ancestry-informed screening for inherited heart disease in Hispanic populations. Many patients may be unaware of African ancestry that could affect their health risk. By considering genetic background, especially in underserved groups, doctors may be able to catch serious heart disease earlier, possibly even before symptoms start.
While most people will not carry this gene variant, those who do may benefit from regular checkups and early heart testing. Patients with Dominican or mixed African heritage can ask their doctors whether genetic screening might be appropriate.
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