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Unexplained Left Ventricular Hypertrophy Revealing Transthyretin Cardiac Amyloidosis: A primare Care-Driven Diagnosis

Oliver VAN HECKE, Marta WANAT and Aleksandra BOREK

Cardiac amyloidosis is an underdiagnosed infiltrative cardiomyopathy that often mimics hypertrophic heart disease. Its recognition has major implications for patient outcomes, especially in older adults frequently managed in primary care.This case illustrates the diagnostic trajectory from an apparently benign hypertrophic pattern to confirmed transthyretin cardiac amyloidosis, emphasizing continuity of care and coordinated diagnostic pathways.A 70-year-old man with hypertension, dyslipidemia, paroxysmal atrial fibrillation, and neuropathic pain attended a routine cardiology follow-up. He was asymptomatic. His medical history included incidental aortic and coronary calcification on CT, without prior cardiac structural disease.An ECG showed sinus rhythm with frequent supraventricular extrasystoles and nonspecific repolarization changes.Echocardiography revealed concentric left ventricular hypertrophy with a severe apical–basal gradient (2.3), preserved LVEF, and markedly reduced global longitudinal strain (–15.7%).Additional findings included grade III diastolic dysfunction, moderate left atrial dilation, thickened mitral and aortic valves with mild regurgitation, and a thin pericardial effusion. Right ventricular size and function were normal.Given the combination of concentric hypertrophy, reduced strain with apical sparing, and valvular thickening, the cardiologist suspected an infiltrative cardiomyopathy.A DPD-scintigraphy scan was ordered and demonstrated strong myocardial tracer uptake, confirming transthyretin cardiac amyloidosis. Laboratory tests excluded light-chain disease.The patient was referred to a specialized amyloidosis unit and started on disease-specific therapy, with continued shared follow-up between cardiology and primary care.This case exemplifies the diagnostic challenge of differentiating hypertensive or age-related cardiac remodeling from amyloid infiltration, especially in asymptomatic patients.The presence of preserved ejection fraction with disproportionately reduced strain and apical sparing is highly specific yet frequently overlooked.Primary care clinicians often follow older adults with nonspecific symptoms or ECG abnormalities.Understanding red-flag echocardiographic features—apical sparing, concentric hypertrophy,and valvular thickening—may accelerate referral.Incorporating DPD-SPECT into diagnostic pathways enables non-invasive confirmation and timely therapy initiation.Improved awareness could reduce diagnostic delays.This case highlights the essential role of family medicine in longitudinal monitoring of older patients and integrating subtle clinical changes.Early suspicion and coordinated referral optimized diagnostic accuracy.Amyloidosis screening should be considered in unexplained LV hypertrophy, especially with discordant strain findings.Cardiac amyloidosis can present silently.Collaboration between primary care and cardiology is crucial for early identification,confirmation with DPD-scan,and initiation of disease-modifying treatment.