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Cardiomyopathy with an LMNA Genetic Variant Affecting Three Consecutive Generations: A Case Series
Naoko Ogawa1, Hidekazu Kondo1, Yumi Ishii1
1Department of Cardiology and Clinical Examination, Faculty of Medicine, Oita University, Japan.
A novel LMNA gene mutation causes cardiac laminopathy, leading to atrial fibrillation and heart block in a three-generation family. Genetic testing identified the mutation, potentially explaining late-onset heart dysfunction.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Genetic Diseases
Background:
- Cardiac laminopathies are inherited heart muscle diseases often caused by mutations in the LMNA gene.
- These conditions can manifest with a range of cardiac abnormalities, including arrhythmias and heart failure.
Observation:
- A three-generation family presented with a history of atrial fibrillation and complete atrioventricular block.
- Affected individuals, aged 38, 61, and 84, received interventions such as implantable cardioverter defibrillators (ICDs) or cardiac resynchronization therapy (CRT).
Findings:
- Genetic analysis revealed a novel frameshift mutation (LMNA Exon 9: c.1550dupA;p. N518Efs*34) in all affected family members.
- This mutation is strongly associated with the observed cardiac phenotypes across generations.
Implications:
- The identified LMNA mutation may be responsible for the late-onset left ventricular systolic dysfunction observed in this family.
- Understanding this mutation's role can improve genetic counseling and risk stratification for families with cardiac laminopathy.
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