Related Experiment Videos
Circulating heart autoantibodies in familial as compared with nonfamilial idiopathic dilated cardiomyopathy
V V Michels1, P P Moll, R J Rodeheffer
1Department of Medical Genetics, Mayo Clinic Rochester, MN 55905.
Insights
Antiheart autoantibodies do not distinguish familial from nonfamilial idiopathic dilated cardiomyopathy (DCM). This finding suggests other markers are needed to identify families who may benefit from genetic screening for DCM.
Area of Science:
- Cardiology
- Immunology
- Genetics
Background:
- Idiopathic dilated cardiomyopathy (DCM) is a heart condition affecting ventricle size and function.
- While 20% of DCM cases have a familial component, distinguishing familial from nonfamilial DCM is challenging.
- Identifying predictive markers for familial DCM is crucial for targeted echocardiographic screening.
Purpose of the Study:
- To investigate if antiheart autoantibodies can differentiate between familial and nonfamilial idiopathic DCM.
- To assess the diagnostic potential of specific autoantibodies in DCM subtyping.
Main Methods:
- Serum samples were analyzed for antiheart antibodies in 19 familial DCM and 15 nonfamilial DCM patients.
- Patients were diagnosed based on echocardiographic investigation of first-degree relatives.
- The mean disease duration at serum collection was 50 months.
Main Results:
- Antibody titers against adenine nucleotide translocator, branched-chain keto acid dehydrogenase, and cardiac myosin did not differ between familial and nonfamilial DCM groups.
- These specific autoantibodies are not reliable indicators for distinguishing DCM inheritance patterns.
Conclusions:
- Antiheart autoantibodies tested do not serve as biomarkers to distinguish familial from nonfamilial idiopathic DCM.
- Further research is needed to identify reliable serum markers for predicting familial DCM.
Background:
Idiopathic dilated cardiomyopathy (DCM) is a serious heart disease characterized by enlargement of one or both ventricles and ventricular dysfunction. Although most patients have sporadic disease, 20% have been found to have familial DCM when relatives are investigated by echocardiography. No other factors have been identified to date that consistently distinguish familial from nonfamilial DCM. Although some patients have a family history of DCM, a "negative" family history does not exclude familial DCM because affected family members may be presymptomatic or undiagnosed. Because some patients have life-threatening complications at the time of initial assessment of DCM, identifying a serum marker predictive of familial disease would help determine which families would most likely benefit from echocardiographic investigation.
Objective:
In this study, our objective was to determine whether antiheart autoantibodies could be used to distinguish familial from nonfamilial idiopathic DCM.
Methods:
We analyzed serum specimens for antiheart antibodies from 19 patients categorized as having familial DCM and 15 classified as having nonfamilial DCM on the basis of echocardiographic investigation of first-degree relatives. The mean duration of disease in these 34 patients was 50 months at the time the serum specimens were obtained.
Results:
Titers of antibodies against the adenine nucleotide translocator, branched-chain keto acid dehydrogenase, and cardiac myosin did not distinguish between familial and nonfamilial cases of DCM.