Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death

• Published in: Herz Vol. 37; no. 4; pp. 456 - 460
• Main Authors: Edler, C, Saeger, W, Orth, U, Braun, C, Wulff, B, Sperhake, J
• Format: Journal Article
• Language: English; German
• Published: Germany 01-06-2012
• Subjects: Amyloidosis, Familial - diagnosis; Amyloidosis, Familial - genetics; Death, Sudden, Cardiac - etiology; Genetic Predisposition to Disease - genetics; Heart Diseases - diagnosis; Heart Diseases - genetics; Humans; Male; Middle Aged; Mutation - genetics; Prealbumin - genetics
• ISSN: 0340-9937; 1615-6692
• DOI: 10.1007/s00059-011-3566-9

Hereditary amyloidoses present a clinically and genetically heterogeneous group of autosomal dominant diseases. The most frequent form is associated with mutations of the transthyretin gene. The type of mutation determines the process, the organs primarily involved as well as the time of onset of the disease. Life expectancy is generally limited by the degree of cardiomyopathy. The cases of two male patients who died suddenly and unexpectedly are presented. In both cases, autopsy revealed a biventricular cardiac hypertrophy. Cardiac amyloidosis was diagnosed by means of histologic and genetic analysis. Early diagnosis is essential for those affected, since liver transplantation still represents the only effective treatment. This illustrates the benefit of autopsy investigations for surviving relatives, who may themselves be affected by the disease.