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Familial dilated cardiomyopathy
M A Schmidt1, V V Michels, W D Edwards
1Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905.
Insights
Familial dilated cardiomyopathy is more common than previously thought, often missed without thorough family history reviews. Early diagnosis in relatives using echocardiography can prevent sudden death and enable genetic counseling.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Idiopathic dilated cardiomyopathy (IDC) is typically viewed as a sporadic, non-genetic condition.
- Familial occurrences of IDC are often considered rare.
Observation:
- Investigation of 6 families revealed that familial IDC may be more prevalent than initially suspected.
- The hereditary nature of IDC was not evident in 3 families until comprehensive family studies were conducted.
- Clinical presentations and age of onset varied significantly among and within families.
Findings:
- Familial dilated cardiomyopathy occurs more frequently than previously recognized.
- Thorough family history reviews are crucial for identifying potential hereditary cases.
- Echocardiography serves as an effective noninvasive method for screening relatives.
Implications:
- Recommended that all patients diagnosed with dilated cardiomyopathy undergo a detailed family history assessment.
- Further investigation of relatives is advised if unexplained heart disease, sudden death, or syncope exists in the family.
- Early detection of affected relatives allows for timely treatment of arrhythmias to prevent sudden cardiac death and facilitates genetic counseling.
Abstract:
Idiopathic dilated cardiomyopathy is generally considered a sporadic, nongenetic disorder, and reports of familial cases are often regarded as rare occurrences. Results of the present investigation of 6 families with this disorder suggest that familial forms of dilated cardiomyopathy occur more frequently than previously suspected. The familial nature of the dilated cardiomyopathy was not readily apparent in 3 of these families until thorough family investigations had been performed. The clinical symptoms and age of onset were variable from one family to another and within families. Based on these observations, it is recommended that all persons diagnosed with dilated cardiomyopathy have a thorough review of their family history. If there are any cases of unexplained heart disease, sudden unexpected death or syncopal episodes, further investigations of relatives should be performed. Echocardiography is a convenient noninvasive tool for investigating relatives. Early diagnosis of affected relatives is important for 2 reasons--treatment of significant arrhythmias may prevent sudden unexpected death, and genetic counseling can be provided.