Study Links Hereditary Heart Disease Gene to Black Loyalist Descendants in Atlantic Canada
New research published in the Canadian Journal of Cardiology links the V142I genetic variant causing hereditary transthyretin amyloidosis (hATTR) to descendants of Black Loyalists in Atlantic Canada. The study traces the variant through the family of James Henry Brothers, who died in 2016 after years of misdiagnosis. Researchers estimate that approximately 1 in 29 African Nova Scotians may carry the gene.
Research published in the Canadian Journal of Cardiology has linked the V142I genetic variant, which causes hereditary transthyretin amyloidosis (hATTR), to descendants of Black Loyalists in Atlantic Canada. The study traces the variant through the family of James Henry Brothers, a Nova Scotia man whose 15-year search for answers ended with a correct diagnosis in 2013 and his death in November 2016 at age 71.
Before receiving his hATTR diagnosis, Brothers underwent carpal tunnel surgeries, spinal stenosis surgery, two knee replacements, and multiple cardiology visits. His condition was finally identified after a heart biopsy was sent to the Mayo Clinic in Minnesota. According to researchers, approximately 1 in 29 African Nova Scotians may carry the V142I genetic variant associated with the disease. By comparison, the variant is estimated to affect 3 to 4 per cent of Black people in the U.S. and the U.K.
When Brothers was diagnosed in 2013, treatments for hATTR were unavailable. Current treatments can now slow the disease if it is diagnosed early. Rachel Brothers co-founded Amyloid Action, a non-profit organization promoting education and early diagnosis for hATTR in Black communities.
Dr. Kareem Morant noted that Canadian specialists often work in isolation with incompatible electronic medical records, unlike institutions such as the Mayo Clinic. This lack of coordination among specialists contributes to delayed diagnoses due to the disease's non-specific symptoms. The findings highlight an increased risk of undiagnosed cases within the Black Loyalist descendant community in Atlantic Canada, alongside systemic healthcare issues regarding isolated specialist practices and outdated record-sharing methods in Canada.