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Updated: Oct 14, 2025
08:37
Sarcomere Shortening of Pluripotent Stem Cell-Derived Cardiomyocytes using Fluorescent-Tagged Sarcomere Proteins.
Published on: March 3, 2021
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A case with two faces: noncompaction or phospholamban cardiomyopathy?
Sip Wijchers1, Jan H von der Thüsen2, Jan Lukas Robertus3
1Department of Cardiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Summary
A rare phospholamban gene mutation caused severe noncompaction cardiomyopathy in a 15-year-old girl, leading to heart failure and transplant. This highlights the importance of genetic testing for such cases.
Area of Science:
- Cardiology
- Genetics
- Pathology
Background:
- Noncompaction cardiomyopathy is a recognized cardiac condition.
- Phospholamban gene mutations are increasingly linked to cardiomyopathies.
Observation:
- A 15-year-old female presented with rapidly progressing heart failure.
- Cardiovascular imaging confirmed noncompaction cardiomyopathy.
Findings:
- Genetic testing revealed a phospholamban gene mutation.
- The patient underwent heart transplantation due to end-stage heart failure.
Implications:
- This case underscores the critical role of phospholamban gene mutation analysis in severe noncompaction cardiomyopathy.
- Early genetic diagnosis can inform prognosis and management strategies for inherited cardiomyopathies.
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