JACC. Case reports · 2026
This ECG Does Not Fit: Rethinking Left Ventricular Hypertrophy.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
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Perini Schweiger Carlotta, Allocca Giuseppe, Gugelmo Giorgia, Lenzini Livia, Cipriani Alberto, Perazzolo Marra Martina, Corrado Domenico, Vitturi Nicola, Carraro Gianni, De Michieli Laura
Аннотация
BACKGROUND: Anderson-Fabry disease (AFD) is a rare cause of left ventricular hypertrophy (LVH) that can be challenging to diagnose, particularly when comorbidities are present.
CASE SUMMARY: We report a 70-year-old man with controlled hypertension, diabetes mellitus, chronic kidney disease, prior percutaneous coronary intervention on the left anterior descending artery, evaluated for progressive LVH and electrocardiogram (ECG) changes during follow-up. ECG showed an atypical pattern with right bundle branch block. Cardiac magnetic resonance then demonstrated reduced native T1 values. Genetic testing identified the p.N215S (p.Asn215Ser) GLA mutation, confirming late-onset AFD. Disease-specific management was subsequently initiated.
DISCUSSION: Late-onset AFD is frequently underdiagnosed, particularly in older patients with multiple cardiovascular comorbidities. Careful ECG analysis may provide key diagnostic clues and prompt advanced imaging and genetic testing.
TAKE-HOME MESSAGES: AFD should be considered in older patients with unexplained LVH. Careful evaluation of ECG abnormalities may be sufficient to trigger targeted, second-level, diagnostic tests.
CASE SUMMARY: We report a 70-year-old man with controlled hypertension, diabetes mellitus, chronic kidney disease, prior percutaneous coronary intervention on the left anterior descending artery, evaluated for progressive LVH and electrocardiogram (ECG) changes during follow-up. ECG showed an atypical pattern with right bundle branch block. Cardiac magnetic resonance then demonstrated reduced native T1 values. Genetic testing identified the p.N215S (p.Asn215Ser) GLA mutation, confirming late-onset AFD. Disease-specific management was subsequently initiated.
DISCUSSION: Late-onset AFD is frequently underdiagnosed, particularly in older patients with multiple cardiovascular comorbidities. Careful ECG analysis may provide key diagnostic clues and prompt advanced imaging and genetic testing.
TAKE-HOME MESSAGES: AFD should be considered in older patients with unexplained LVH. Careful evaluation of ECG abnormalities may be sufficient to trigger targeted, second-level, diagnostic tests.