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Genetic studies on abnormally located chordae in cardiac cavities
1Department of Internal Diseases, University of Medicine, Plovdiv, Bulgaria.
Insights
Abnormally located chordae in cardiac cavities, often in the left ventricle, were diagnosed using echocardiography. This familial condition appears to be genetically determined with an autosomal dominant inheritance pattern.
Area of Science:
- Cardiology
- Genetics
- Medical Diagnostics
Background:
- Abnormally located chordae are cardiac anomalies that can affect heart function.
- Diagnosis of these anomalies is crucial for understanding potential cardiac conditions.
Purpose of the Study:
- To investigate the characteristics and inheritance patterns of abnormally located chordae.
- To determine the diagnostic methods and familial incidence of this cardiac anomaly.
Main Methods:
- Utilized two-dimensional echocardiography for in-vivo diagnosis in 29 patients.
- Conducted clinical and genealogical assessments across nine families.
- Performed genetic and mathematical analyses to evaluate inheritance patterns.
Main Results:
- Abnormally located chordae were most prevalent in the left ventricle but also found in other cardiac cavities.
- The anomaly occurred in one to three instances, grouped or separate.
- Familial incidence was observed across two to three generations in nine families, with 2-5 carriers per family.
Conclusions:
- The familial occurrence of abnormally located chordae is strongly suggested to be genetically determined.
- Evidence supports a monogenic autosomal dominant mode of inheritance for this cardiac anomaly.
Abstract:
A sample of 29 patients with abnormally located chordae in the cardiac cavities is discussed. The pathologic condition was diagnosed during life time using two-dimensional echocardiography. The abnormally located chordae were most frequently found in the left ventricle, but there were cases in which such chordae were found in other cardiac cavities. They numbered one to three and were located in groups in the left ventricle or separately in the other cardiac cavities. The patients belonged to nine families each one of the families having two to five carriers of the anomaly. Such a familial incidence was registered in two, sometimes in three generations. The clinical and genealogical data as well as the genetic and mathematical testing gives a reasonable basis to assume that this familial occurrence of abnormally located chordae is genetically determined and has a monogenic autosomal dominant mode of inheritance.