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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Transthyretin Cardiac Amyloidosis in a Safety-Net Hospital: A Case Series of 10 Afro-Caribbean Patients
Keston Rattan1, Elizabeth L Allison1, Wayne-Andrew Palmer1
1SUNY Downstate Health Sciences University, Brooklyn, New York, USA.
Abstract:
Transthyretin cardiac amyloidosis (ATTR-CA) is profoundly underdiagnosed in Afro-Caribbean populations despite the high prevalence of the Val122Ile (V142Ile) variant (approximately 3.4% carrier frequency among self-identified Black individuals in the United States). This case series describes 10 Afro-Caribbean patients diagnosed with ATTR-CA at a safety-net hospital. Seven patients presented with heart failure symptoms, while 3 presented with alternative manifestations including syncope with high-degree atrioventricular block and pericardial tamponade. The mean age was 75 ± 8 years, with 80% male predominance. All patients demonstrated a positive 99mTc-PYP scan, and cardiac magnetic resonance imaging was performed in 20%. Among patients with completed genetic testing, 50% had the Val122Ile variant, and 50% had the wild-type ATTR. Atrial fibrillation was present in 50%, and 30% required permanent pacemaker implantation for symptomatic bradycardia. This series demonstrates that ATTR-CA can be effectively diagnosed in resource-limited safety-net hospitals, emphasizing these institutions' critical role in reducing health disparities.