Senile Systemic Amyloidosis: An Underdiagnosed Disease

Marta Catarino Manso, Diogo Paixão Marques, Sara L Rocha, Simão C Rodeia, Raquel Domingos
European Journal of Case Reports in Internal Medicine 2017, 4 (9): 000725

Senile systemic amyloidosis is caused by a non-mutated form of transthyretin with the heart being the major organ involved. This infiltrative cardiomyopathy usually presents as slowly progressive heart failure. An 82-year-old female patient was admitted for newly diagnosed heart failure. A year later she presented with decompensated heart failure and syncope. Inpatient work-up showed persistently elevated troponin and N-terminal-pro BNP levels, rapid progression to severe left ventricular concentric hypertrophy, and sinus pauses on the Holter. Cardiac MRI revealed diffuse late gadolinium enhancement in the left ventricle. The demonstration of amyloid protein with the clinical findings and complementary investigations allowed for the diagnosis of senile systemic amyloidosis.

LEARNING POINTS: Senile systemic amyloidosis is a rare disease with a common clinical presentation that is probably underdiagnosed in patients with heart failure with preserved systolic function.A new unexplained heart failure diagnosis, increased ventricular wall thickness and particularly low voltage on the ECG should raise the suspicion of cardiac amyloidosis.Histopathological evidence of amyloid deposition elsewhere and typical advanced imaging features can support the diagnosis, rendering endomyocardial biopsy no longer mandatory.

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