Clinical acumen and non-invasive imaging features like echocardiographic apical sparing and cardiac MRI late gadolinium enhancement are crucial for diagnosing cardiac amyloidosis when biopsy is not feasible.
Case Report (n=1)
Highlights the importance of clinical acumen and non-invasive imaging for diagnosing cardiac amyloidosis in settings where biopsy and genetic testing are unavailable, and cautions against conventional heart failure treatments in restrictive cardiomyopathies.
Cardiac amyloidosis is a still underdiagnosed, but increasingly recognized, cause of restrictive cardiomyopathy and heart failure that results from deposition of misfolded amyloid protein fibrils in the heart tissue. This results in progressive ventricular stiffening, loss of diastolic filling, arrhythmias and eventually heart failure. Early diagnosis is important because newer disease-modifying therapies and optimized heart failure management can lead to better outcomes for the patient. A 50-year-old Bangladeshi female with a new diagnosis of type-2 diabetes mellitus reported a six-month history of progressive shortness of breath with exertion that was currently NYHA class III. She also complained of occasional paroxysmal nocturnal dyspnea, chronic dry cough, generalized swelling and unintentional weight loss. No pallor or jaundice. Pulse rate 88 beat/min, blood pressure 102/64 mmHg, respiration rate 16 breath/min, bibasilar crackles on lung auscultation, shifting dullness, ascites perhaps, tender hepatomegaly. There were no other abnormal systemic findings. In such scenarios, where endomyocardial biopsy and modern genetic analysis are not feasible, clinical acumen and traditional non-invasive imaging features (like echocardiographic apical sparing and cardiac MRI late gadolinium enhancement) will play a crucial role in early diagnosis. One important lesson is that conventional heart failure treatment regimens should be used with great caution in restrictive cardiomyopathies, and easily accessible disease-specific therapies are needed.
Hossen et al. (Mon,) conducted a case report in Cardiac Amyloidosis (n=1). Clinical acumen and non-invasive imaging features like echocardiographic apical sparing and cardiac MRI late gadolinium enhancement are crucial for diagnosing cardiac amyloidosis when biopsy is not feasible.