A 67-year-old hypertensive diabetic with hyperlipidemia who presented with chest pain, progressive exertional dyspnea, orthopnea, and swelling in both the lower extremities. Initial investigation such as an electrocardiogram and cardiac catheterization excluded acute ischemia but documented nonobstructive coronary disease. Transthoracic echocardiography demonstrated left ventricular hypertrophy, severe systolic dysfunction, and increased filling pressures, suspicious for cardiac amyloidosis.
Cardiac magnetic resonance imaging revealed contrast kinetic abnormalities consistent with amyloid deposition, and technetium-99m pyrophosphate scanning established diffuse transthyretin-type amyloidosis. Myocardial biopsy, with Congo red staining and apple-green birefringence on polarized light, established the diagnosis. Genetic analysis identified a Val122Ile mutation in the transthyretin gene, thereby establishing hereditary ATTR amyloidosis.
He was first treated with diuretics, angiotensin-converting enzyme inhibitors, and guideline-directed medical therapy for heart failure. Based on the diagnosis, he was initiated on tafamidis, a transthyretin stabilizer, and his symptoms of heart failure and exercise tolerance significantly improved. Since therapy initiation, he has not been readmitted to the hospital and is regularly being followed up with cardiology.
This case emphasizes the importance of employing multimodal imaging methods for the diagnosis of amyloid cardiomyopathy, a clinical syndrome that would progress to end-stage heart failure within a short time if left untreated. ATTR cardiomyopathy is often underdiagnosed, especially in elderly patients with unexplained heart failure. Early diagnosis of the condition by echocardiography, cardiac MRI, nuclear imaging, and histopathological confirmation allows early initiation of targeted treatment modalities, thus improving patient outcomes. Therapeutic interventions are directed at preventing further amyloid deposition and symptomatically managing heart failure using appropriate pharmacological interventions.
This case illustrates the importance of using a multidisciplinary approach that integrates sophisticated imaging methods with genetic testing to enable the timely and precise diagnosis of cardiac amyloidosis, thereby improving patient management and outcome.
