JACC. Case reports · 2026
Apical Hypertrophic Cardiomyopathy in ATTR Val142Ile Carrier: When Genes and Phenotype Diverge.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Khayat Omar, Moumneh Mohamad B, Salman Oday, Jia Kaiyu, Zayed Ahmed, Abofrekha Bahy, Itani Hadi, Dulnuan Kenneth
Аннотация
BACKGROUND: Pathogenic transthyretin (TTR) variants, such as V142I, demonstrate incomplete, age-dependent penetrance and may be present in patients without clinical transthyretin cardiac amyloidosis cardiomyopathy (ATTR-CM). Distinguishing true ATTR-CM from phenocopies like apical HCM (ApHCM) is critical to guide management.
CASE SUMMARY: A 61-year-old African-American male with longstanding ApHCM was found to carry the pathogenic TTR V142I variant. Despite genotype positivity, technetium-99m pyrophosphate scintigraphy (H/CL 1.01, visual grade 0) excluded ATTR-CM, and cardiac magnetic resonance imaging confirmed apical-predominant hypertrophy with patchy late gadolinium enhancement consistent with ApHCM. The patient remained stable on medical therapy with ongoing surveillance.
DISCUSSION: This case illustrates genotype-phenotype discordance in TTR carriers and highlights the importance of integrating genetic data with multimodality imaging. Recognition of phenocopies in patients with the TTR gene prevents misdiagnosis and unnecessary therapy and emphasizes the need for longitudinal surveillance in at-risk patients.
TAKE-HOME MESSAGES: TTR genotypes can be associated with an HCM phenotype. Clinical and imaging correlation is essential to interpret genetic findings and avoid misdiagnosis.
CASE SUMMARY: A 61-year-old African-American male with longstanding ApHCM was found to carry the pathogenic TTR V142I variant. Despite genotype positivity, technetium-99m pyrophosphate scintigraphy (H/CL 1.01, visual grade 0) excluded ATTR-CM, and cardiac magnetic resonance imaging confirmed apical-predominant hypertrophy with patchy late gadolinium enhancement consistent with ApHCM. The patient remained stable on medical therapy with ongoing surveillance.
DISCUSSION: This case illustrates genotype-phenotype discordance in TTR carriers and highlights the importance of integrating genetic data with multimodality imaging. Recognition of phenocopies in patients with the TTR gene prevents misdiagnosis and unnecessary therapy and emphasizes the need for longitudinal surveillance in at-risk patients.
TAKE-HOME MESSAGES: TTR genotypes can be associated with an HCM phenotype. Clinical and imaging correlation is essential to interpret genetic findings and avoid misdiagnosis.