Multimodality imaging of myocardial injury and coronary microvascular dysfunction in congenital thrombotic thrombocytopenic purpura.

Authors

Ayush Kumar, Leonid Khokhlov, Robert O'Donnell

Published in

The international journal of cardiovascular imaging. Jul 08, 2026. Epub Jul 08, 2026.

Abstract

Congenital thrombotic thrombocytopenic purpura is an ultra-rare autosomal recessive disorder associated with mutations in the ADAMTS13 gene. The gene product is an enzyme responsible for cleavage of ultra-large von Willebrand factor multimers, and severe deficiency results in a thrombotic microangiopathy. We present the case of subclinical cardiac involvement characterized by myocardial fibrosis/scarring and impaired myocardial flow reserve in an affected patient who temporarily discontinued enzyme replacement therapy. This case highlights the complementary value of cardiac magnetic resonance and PET myocardial perfusion imaging in congenital thrombotic thrombocytopenic purpura where subclinical myocardial injury may coexist with impaired myocardial flow reserve despite the absence of focal inducible ischemia.

PMID:
42418134
Bibliographic data and abstract were imported from PubMed on 08 Jul 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.