Occult cardiac amyloidosis: the last chapter of a 2-year long story

Abstract

Amyloidosis is characterized by deposition of insoluble fibrillar proteins in organs and tissues. The prognosis depends on where in the body amyloid deposition occurs, the amount of deposition, and the symptoms, which are often unspecific. Cardiac involvement is commonly associated with the immunoglobulin light-chain amyloidosis (AL) and may lead to sudden death. The case of a 53-year-old man's death due to unsuspected, undiagnosed AL predominantly involving the myocardium has been reported. His medical history had begun with gastroenterological symptoms. Angina pectoris and brain stroke occurred in the following years. He died after two years during the surgical implantation of a cardioverter-defibrillator because of cardiogenic shock. Post-mortem histologic examination revealed the presence of amyloid material in the lymph nodes, lungs, liver, spleen, kidneys, adrenal glands, stomach, and heart. The cause of death was cardiac failure secondary to primary systemic amyloidosis predominantly involving the heart. This case demonstrates that amyloidosis should be considered within the differential diagnoses and actively investigated in patients with unspecific and long-lasting symptoms; medical liability may also be suspected.