High prevalence of ATTR amyloidosis in endomyocardial biopsy-proven cardiac amyloidosis patients

Abstract

Background: Cardiac amyloidosis had been considered to be an incurable disease; however, new disease-modifying therapeutic approaches have succeeded in ameliorating the disease. Therefore, early and precise diagnosis based on the amyloid precursor protein is extremely important.

Objective: To determine the prevalence rates of systemic amyloidoses underlying cardiac amyloidosis.

Methods: The types of amyloidosis in 53 consecutive patients with endomyocardial biopsy-proven cardiac amyloidosis were analyzed by Congo red and immunohistochemical staining. If staining for TTR was positive, direct DNA sequencing of the entire TTR gene was performed.

Results: ATTR amyloidosis was the most common (32/53 patients, 60.4%). The ATTR amyloidosis subtypes were senile systemic amyloidosis (SSA) 11, familial ATTR 10, and genotype unknown 11. AL amyloidosis was the next most frequent (19/53, 35.8%).

Conclusions: ATTR amyloidosis, especially SSA, might be much more common than previously thought. With the development of new drugs targeting the ATTR amyloidosis, major efforts should be made to increase awareness of senile systemic amyloidosis among cardiologists.

• Amyloid
• cardiomyopathy
• cardiac amyloidosis
• endomyocardial biopsy
• familial amyloid polyneuropathy
• senile systemic amyloidosis
• transthyretin

Acknowledgements

The authors thank Ms E. Nomura for her technical support.