A case with two faces: noncompaction or phospholamban cardiomyopathy?

Sip Wijchers, Jan H. von der Thüsen, Jan Lukas Robertus, Kadir Caliskan*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

Noncompaction cardiomyopathy is a well-known clinical entity, whereas phospholamban gene mutation is a relatively recently known mutation with phenotypes as arrhythmogenic cardiomyopathy and dilated cardiomyopathy. We report the case of a 15-year-old girl that presents with rapid progressive heart failure based on a noncompaction cardiomyopathy as confirmed through cardiovascular imaging. As a result of her progressive heart failure 22 months later she received a heart transplant. Genetic testing showed a phospholamban gene mutation. We present cardiovascular images together with macroscopic and microscopic anatomy. This case shows the importance of considering phospholamban gene mutation in a case of severe noncompaction cardiomyopathy.

Original languageEnglish
Article number107395
JournalCardiovascular Pathology
Volume57
DOIs
Publication statusPublished - 1 Mar 2022

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