A Study of Prevalence of Dysmorphic Features in Children with Congenital Heart Disease and their Association with type of CHD

Introduction: Congenital heart disease (CHD) accounts to 28 percent of major congenital anomalies, accounting it to be the most common among them. Children with Congenital heart disease often have various dysmorphic features. Objectives: To study the prevalence of dysmorphology in children with CHD and their association between cyanotic and acyanotic types of CHD. Methods: A cross sectional observational study was conducted on 127 children with congenital heart disease admitted in JLN Medical College during the study period. Various dysmorphologies were noted. Prevalence of dysmorphic features and if any dysmorphic feature is significantly associated with the type of CHD (cyanotic or acyanotic) were statistically determined. Result: 75.5% of the sample had some form of dysmorphism, of which the most common was face dysmorphism. Hypertelorism and total face dysmorphism were significantly associated with cyanotic CHD. Conclusion: Dysmorphisms when found in any child warrant the clinician to look for any congenital cardiac anomalies. This helps in early diagnosis and thus, better survival of such children. The dysmorphology can even give a hint about the presence of probable cyanotic variant of CHD.      引言：先天性心脏病（Congenital heart disease, CHD）占重大先天性畸形的28%，是此类畸形中最为常见的类型。先天性心脏病患儿常存在多种发育畸形特征。 研究目的：探究先天性心脏病患儿的发育畸形特征患病率，以及该特征与青紫型、非青紫型先天性心脏病亚型之间的关联。 研究方法：本研究为横断面观察性研究，于研究期间纳入127名于贾瓦哈拉尔·尼赫鲁医学院（JLN Medical College）住院的先天性心脏病患儿，记录其各类发育畸形特征，并通过统计学方法分析畸形特征的整体患病率，以及是否存在某类畸形特征与先天性心脏病亚型（青紫型或非青紫型）存在显著相关性。 研究结果：75.5%的研究对象存在至少一种发育畸形，其中最为常见的为面部畸形。眶距过宽（hypertelorism）与全面部畸形与青紫型先天性心脏病存在显著关联。 研究结论：若儿童出现发育畸形特征，临床医师应排查其是否存在先天性心脏异常，这有助于实现早期诊断，进而改善此类患儿的生存预后。此外，发育畸形特征还可提示先天性心脏病存在青紫型亚型的可能性。