A case with two faces: noncompaction or phospholamban cardiomyopathy?

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.

Keywords: cardiomyopathy; heart transplant; noncompaction; phospholamban.