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Войти в исследования JACC. Case reports · 2026
p.(V142I)-Associated Variant Transthyretin Amyloid Cardiomyopathy Complicating Complex Congenital Heart Disease: A Lethal Combination.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Zathar Zafraan, Choy Chern Hsiang, Al-Sakini Nada, Pinney Jennifer, Banerjee Prithwish, Adamson Dawn L, Gillmore Julian D, Fontana Marianna, Steeds Richard P, Moody William E
Аннотация
BACKGROUND: p.(V142I)-associated variant transthyretin amyloid cardiomyopathy (ATTRv-CM) is biologically aggressive and predominantly affects individuals of African ancestry.
CASE SUMMARY: A 51-year-old Nigerian man was diagnosed with double outlet right ventricle by the adult congenital heart disease service, although challenging social circumstances hindered adherence to clinic appointments. He re-established regular contact after 3 years and underwent workup for corrective surgery. Cardiac amyloidosis was suspected on repeat echocardiogram and confirmed on cardiac magnetic resonance and bone scintigraphy. Genetic sequencing later identified homozygosity for the p.(V142I) transthyretin variant. He was referred for emergency transplant assessment after developing cardiogenic shock. Unfortunately, he died despite receiving supportive therapies.
DISCUSSION: Homozygous p.(V142I)-ATTRv-CM presents earlier and advances more aggressively than its heterozygous counterpart. This unusual case highlights the diagnostic pitfalls when genetics, adult congenital heart disease, and advanced heart failure intersect.
TAKE-HOME MESSAGE: In patients of African ancestry, a high index of suspicion for p.(V142I)-ATTRv-CM is needed to prompt early diagnosis and initiation of disease-modifying therapies.
CASE SUMMARY: A 51-year-old Nigerian man was diagnosed with double outlet right ventricle by the adult congenital heart disease service, although challenging social circumstances hindered adherence to clinic appointments. He re-established regular contact after 3 years and underwent workup for corrective surgery. Cardiac amyloidosis was suspected on repeat echocardiogram and confirmed on cardiac magnetic resonance and bone scintigraphy. Genetic sequencing later identified homozygosity for the p.(V142I) transthyretin variant. He was referred for emergency transplant assessment after developing cardiogenic shock. Unfortunately, he died despite receiving supportive therapies.
DISCUSSION: Homozygous p.(V142I)-ATTRv-CM presents earlier and advances more aggressively than its heterozygous counterpart. This unusual case highlights the diagnostic pitfalls when genetics, adult congenital heart disease, and advanced heart failure intersect.
TAKE-HOME MESSAGE: In patients of African ancestry, a high index of suspicion for p.(V142I)-ATTRv-CM is needed to prompt early diagnosis and initiation of disease-modifying therapies.