Congenital Heart Diseases Definition Cardiovascular malformations present during embryonic stages (胚胎期发生的心血管畸形) Prevalence 7-8/1000 newborns (reported data) 6.87/1000 newborns in Shanghai Epidemiologic survey during 1989-1991)
Congenital Heart Diseases • Definition： Cardiovascular malformations present during embryonic stages （胚胎期发生的心血管畸形） • Prevalence： － 7~8 / 1000 newborns（reported data） － 6.87 / 1000 newborns in Shanghai （epidemiologic survey during 1989～1991）
Etiologic Considerations Hereditary factors Trisomies of chromosome 21.18.13 CATCH22 syndrome (deletion of 22 q11) (22号染色体长臂q11区域微小缺失) Gene defects Mutations of Fibrillin in William's syndrome Defects of Elastin in Marfan's syndrome Mutations of CX43 in Hypoplastic left heart
Etiologic Considerations Hereditary factors • Trisomies of chromosome 21,18,13 • CATCH22 syndrome （deletion of 22 q11 ) （22号染色体长臂q11区域微小缺失） • Gene defects： －Mutations of Fibrillin in William’s syndrome －Defects of Elastin in Marfan’s syndrome －Mutations of Cx43 in Hypoplastic left heart
Etiologic Considerations Environmental factors Exposed to the following factors during the first trimester of pregnancy Viral infections: rubella, influenza enterovirus, paratitis Physical and chemical factors: drugs, radiation alcohol, tobacco Diseases, diabetes, connective tissue problems, congenital defects, hy pertension syndrome
Etiologic Considerations Environmental factors • Exposed to the following factors during the first trimester of pregnancy －Viral infections: rubella, influenza, enterovirus , paratitis －Physical and chemical factors: drugs, radiation, alcohol, tobacco －Diseases: diabetes, connective tissue problems, congenital defects, hypertension syndrome
Pathogenesis ° Hypostasis(本质): Heart development is a very complex process involving many coordinated steps Abnormal embryological development of the heart leads to chD Mechanism(机制): Genetic basis interacted with the environmental factors play role possibly in most cases
Pathogenesis • Hypostasis（本质）： －Heart development is a very complex process involving many coordinated steps －Abnormal embryological development of the heart leads to CHD • Mechanism（机制）： －Genetic basis interacted with the environmental factors play role possibly in most cases