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BAG-3 Mutation Dilated Cardiomyopathy With Left Ventricular Noncompaction in Young Healthy Adult
Yash B Patel1, Wadie David2, Milan Terzic1
1Department of Internal Medicine, Trinity Health Ann Arbor, Michigan, USA.
JACC. Case Reports
|December 18, 2024
Summary
A BAG3 gene mutation caused heart failure and left ventricular noncompaction in a 34-year-old man. This case highlights genetic factors in nonischemic cardiomyopathies.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Cardiomyopathies are broadly classified into ischemic and nonischemic categories.
- Dilated cardiomyopathies, a subset of nonischemic cardiomyopathies, can present with left ventricular noncompaction.
- Genetic mutations are increasingly recognized as a cause of cardiomyopathies.
Observation:
- A 34-year-old male presented with new-onset decompensated heart failure.
- Cardiac imaging revealed features of left ventricular noncompaction.
- Genetic testing identified a truncating mutation in the BAG3 (Bcl-2 associated athanogene 3) gene.
Findings:
- The patient's heart failure and left ventricular noncompaction were attributed to a BAG3 gene mutation.
- This specific BAG3 mutation likely disrupts protein function, leading to cardiomyopathy.
- The case illustrates a direct link between BAG3 genetics and nonischemic cardiomyopathy.
Implications:
- This case underscores the importance of genetic screening in patients with unexplained dilated cardiomyopathy and left ventricular noncompaction.
- Identifying the specific genetic cause, such as BAG3 mutations, can inform prognosis and potential therapeutic strategies.
- Further research into BAG3-associated cardiomyopathies may reveal novel treatment targets for heart failure.
