Genetic studies on abnormally located chordae in cardiac cavities.
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.
Karnolski
I
I
Department of Internal Diseases, University of Medicine, Plovdiv, Bulgaria.
Zhelev
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V
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002815:Chordae Tendineae / Q000002:abnormalities*; D015150:Echocardiography, Doppler; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005820:Genetic Testing; D006321:Heart / Q000503:physiopathology; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree