Case Report on Filamin C Gene Mutation and Heart Transplantation
Author Information
Author(s): Sales Ludmila De Oliveira Jaime, Gutierrez Paulo Sampaio, Siqueira Adailson Wagner D., Jatene Marcelo Biscegli, Azeka Estela
Primary Institution: Instituto do Coração (InCor) do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
Hypothesis
The study aims to report a case of restrictive cardiomyopathy due to a mutation in the Filamin C gene.
Conclusion
Understanding the etiology of cardiomyopathy is crucial for patient management and genetic counseling.
Supporting Evidence
- The patient was diagnosed with restrictive cardiomyopathy at age 7.
- She underwent heart transplantation due to worsening heart failure symptoms.
- Genetic testing revealed a mutation in the Filamin C gene.
Takeaway
This study talks about a girl who had a heart problem because of a gene mutation, and she needed a new heart to feel better.
Methodology
The study involved a review of the patient's electronic medical record and a literature review.
Limitations
The study is based on a single case report, limiting generalizability.
Participant Demographics
A 5-year-old female child diagnosed with restrictive cardiomyopathy.
Digital Object Identifier (DOI)
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