[Assessment of a complex of external phenotypic signs for the detection of minor cardiac anomalies]

The external phenotypic features of the structure of connective tissue (CT) were determined in 120 patients (110 males and 10 females aged 18 to 30 years) with echocardiographic criteria for mitral prolapse and/or chordal malposition. Undifferentiated CT dysplasia (CTD) was established in 110 cases. Ten patients had differentiated CTD (Marfan's syndrome and the Ehlers-Danlos syndrome). A modified schedule including 63 indices was used to study the external phenotype. The external signs of dysplasia were detected in all the cases of echocardiographically verified CTD with a predominance of the manifestations of craniofacial dysmorphism. The maximum number of external CTD was ascertained in patients with differentiated CTD and in those with undifferentiated CTD who had an asthenic constitution and abnormal body weight deficiency. The number of external markers, which exceeds the threshold level (5), or the presence of 3-4 morphodysplasias at various sites is considered to be diagnostically significant in detecting minor cardiac anomalies. The paper presents an algorithm for diagnosing cardiac microanomalies, which is based on the determination of the external signs of CTD.