Cardiac amyloidosis detection with pyrophosphate-99mTc scintigraphy

Full text: Introduction: Amyloidosis is a rare disease, characterized by extracellular deposition of insoluble amyloid fibrils in organs and tissues. It may affect virtually any system, preferably heart, kidneys and liver. The cardiac involvement produces a spectrum of clinical features, usually with progressive dysfunction. Early diagnosis is important for institution of appropriate therapy. Case report: Male patient, 75 years old, with diagnosed congestive heart failure functional class III and Mobitz II second-degree atrial-ventricular block, was hospitalized for implantation of definitive cardiac pacemaker. Patient mentioned history of worsening effort dyspnoea over a one-month period, progressing to minimum effort, orthopnea, paroxysmal nocturnal dyspnoea and paroxysms of dry cough, and swelling of lower limbs. Echocardiography showed diffuse hypertrophy of left ventricle (LV), with systolic dysfunction due to diffuse hypokinesia and hyperrefringent aspect in the septum. It was questioned a cardiac infiltrating process. Cardiac amyloidosis was considered as a diagnostic hypothesis. The patient underwent a pyrophosphate-99mTc scintigraphy, which showed abnormal tracer uptake in the heart projection, with diffuse pattern on the left ventricle walls, compatible with the clinical suspicion cardiac amyloidosis, which was later confirmed by endomyocardial biopsy. Discussion: In this case report, the patient had clinical and other auxiliary examinations, such as electrocardiography and Doppler echocardiography, compatible with cardiac amyloidosis, which led to implementation with pyrophosphate-99mTc scintigraphy and later endomyocardial biopsy. Cardiac amyloidosis occurs in about half the cases of primary amyloidosis (AL) and is rare in secondary amyloidosis (AA). Its clinical presentation is polymorphic and it can be classified into four distinctive types: restrictive cardiomyopathy, systolic dysfunction, postural hypotension and conduction disorders. Cardiac amyloidosis is often under diagnosed due to unspecific and varied signs and symptoms. The diagnosis is confirmed by endomyocardial biopsy, an invasive procedure with inherent risks to this technique. Pyrophosphate-99mTc scintigraphy is a simple, non-invasive, low cost, with good sensitivity method for detection of cardiac amyloidosis. The scintigraphy pattern observed in cardiac amyloidosis cases is abnormal diffuse tracer uptake in both heart ventricles. Planar and/or tomographic imaging may be performed. It is considered a highly sensitive test, with low rates of false-negative results despite the existing little literature. Therefore the scintigraphy can be useful to select patients for biopsy. Conclusion: Scintigraphy can be of great assistance in cardiac amyloidosis, despite its low specificity. Due to its high sensibility, it can be a useful test to early discriminate patients who should undergo biopsy, allowing treatment optimization. (author)