Dyspnoe und Ödeme bei einem 79-jährigen Patienten

BACKGROUND: Transthyretin(TTR)-amyloidosis (hereditary or wild-type) is characterized by deposition of misfold, insoluble amyloid fibrils in the interstitial space, leading to dysfunction of the involved organs. Cardiac involvement may vary, ranging from dyspnea, edema, and arrhythmia to overt heart failure and death. CASE REPORT: A 79-year-old Caucasian male presented with dyspnea, edema, and weight gain. Echocardiography revealed left ventricular wall thickening and restrictive cardiomyopathy. Bone scintigraphy revealed abnormal cardiac tracer uptake consistent with cardiac TTR-amyloidosis, which could be confirmed by endomyocardial biopsy. CONCLUSION: The diagnosis of TTR-amyloidosis is challenging for the clinician and requires their heightened awareness. Definitive diagnosis needs a structured approach including laboratory and imaging findings combined with endomyocardial biopsy.