Egyptian Journal of Medical Human Genetics

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Evaluation of dysmorphic children according to echocardiographic findings: A single center experience

Muhsin Elmas, Ayhan Pektas, Mustafa Solak


Background: Abnormal echocardiographic findings are more common in dysmorphic children. In our study, dysmorphic child development and echocardiographic findings were presented according to prenatal, natal and postnatal periods.

Aim of the study: The aim of this study is to evaluate the frequency and distribution of cardiac anomalies in dysmorphic children. The other aim is to investigate the prenatal, natal and postnatal characteristics of dysmorphic childs according to echocardiography findings.

Design and setting: This study was carried out jointly by the Medical  Genetics and Pediatric Cardiology Departments. The files and the genetic reports of the patients were examined and the hospital registry system scanned, retrospectively. The patients were followed up by the medical geneticist from 2012 to 2017. Their systemic physical examination was performed and recorded.

Methods: This is a retrospective study which contains 468 children (244 males and 224 females) who were referred to the department of medical genetics due to dysmorphic features.

Results: Abnormal echocardiography findings were detected in 157  dysmorphic children (33.4%). Atrial septal defect, patent foramen ovale and ventricular septal defect were the most commonly detected echocardiography findings in dysmorphic children. The number of male children in the abnormal echocardiography group was significantly higher than in the normal echocardiography group. The incidences of consanguineous marriage, polyhydramnios, intrauterine growth  retardation (IUGR) and preterm delivery in the abnormal echocardiography group were   significantly higher than in the normal echocardiography group.  Chromosomal aneuploidy rate in the abnormal echocardiography group was significantly higher than in the normal    echocardiography group (37.6% vs 1.0%; p = 0.001).

Conclusion: According to our study findings, abnormal echocardiography findings were significantly associated with neonatal sex, consanguineous marriage, polyhydramnios, IUGR, preterm delivery and chromosomal aneuploidies in dysmorphic children.

Keywords: Dysmorphic child Echocardiography Cardiac anomaly
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