Overview and classification of congenital heart disease

  The majority of patients with congenital heart disease require surgery, except for a few small ventricular septal defects that have a chance of healing on their own before the age of 5. Before a comprehensive understanding of congenital heart disease, it is important to understand the concept of congenital heart disease. Congenital heart disease is a heart with local anatomical abnormalities caused by disorders in the formation of the heart and large blood vessels during human embryonic development (within the first 2-3 months of pregnancy), or a heart in which the channels that should close automatically after birth fail to close (which is normal in the fetus). The main clinical manifestations are cardiac insufficiency, cyanosis, and dysplasia.  Congenital heart disease is a cardiovascular malformation caused by abnormal development of the heart vessels during fetal life, and is the most common heart disease in children. Its incidence is about 0.8% of births, and 60% of them die at <1 year of age. The pathogenesis may be related to genetics, especially chromosomal translocations and aberrations, intrauterine infections, high-dose radiation exposure and drugs. With the rapid development of cardiovascular medicine, many common congenital heart diseases have been accurately diagnosed and reasonably treated, and the mortality rate has decreased significantly.  Congenital heart disease is a heart with a local anatomical structure abnormality caused by a disorder in the formation of the heart and large blood vessels during human embryonic development (within the first 2-3 months of pregnancy), or a heart in which the channels that should close automatically after birth fail to close (which is normal in the fetus) is called congenital heart disease. Except for small ventricular septal defects that have a chance to heal spontaneously before the age of 5 years, the vast majority require surgical treatment. The main clinical manifestations are cardiac insufficiency, cyanosis, and dysplasia.  Traditional classification: The common congenital heart diseases include ventricular septal defect, atrial septal defect, patent ductus arteriosus, and tetralogy of Fallot.  Congenital heart disease is classified into three groups mainly based on hemodynamic changes.  (1) No shunt type (no cyanosis), i.e., no abnormal pathways and shunts between the left and right sides of the heart or between the arteries and veins, and no cyanosis is produced. It includes aortic constriction, pulmonary valve stenosis, aortic stenosis as well as pulmonary valve stenosis, simple pulmonary dilatation, and primary pulmonary hypertension.  (2) Left-to-right shunt group (latent cyanosis type) This type has abnormal passage between the left and right sides of the heart in the blood flow circulation pathway. In the early stage, because the pressure of the left side of the body circulation of the heart is greater than the pressure of the right side of the pulmonary circulation, the blood flow normally shunts from the left to the right without bruising. When the pressure in the pulmonary artery or the right ventricle increases and exceeds the pressure in the left side of the heart due to crying, breath-holding or any pathological condition, the blood can be shunted from the right to the left and temporary cyanosis can occur. Examples include atrial septal defect, ventricular septal defect, patent ductus arteriosus, main pulmonary artery septal defect, and aortic sinus aneurysm breaking into the right heart or pulmonary artery.  (3) Right-to-left shunt group (cyanotic type) The malformations included in this group also constitute anomalous traffic within the left and right cardiovascular cavities. The venous blood in the right cardiovascular cavity is shunted into the left cardiovascular cavity through the abnormal traffic, and a large amount of venous blood is injected into the body circulation, so persistent cyanosis may occur. For example, tetralogy of Fallot, tetralogy of Fallot, double outlet of the right ventricle and complete transposition of the great arteries, and permanent arterial trunk.  Genetic classification: There are five major categories of genetic disorders, namely monogenic disorders, polygenic disorders, chromosomal disorders, mitochondrial disorders and somatic genetic disorders, except for somatic disorders which are mainly related to tumors, the other four are related to cardiovascular disease.  (1) Monogenic diseases, i.e. Mendelian genetic diseases, include autosomal dominant, autosomal recessive, X-linked and Y-linked inheritance. There are about 120 monogenic diseases with defective cardiovascular system syndromes, some of which have identified the gene locus and mutations of molecular genetic defects, such as Marfan syndrome, Noonan syndrome, Holt-Oram syndrome, long Q-T syndrome (LQT) without deafness and supra-aortic stenosis in autosomal dominant mode of inheritance; Ellis-Van syndrome, Ellis-Van syndrome, Ellis-Van syndrome, Ellis-Van syndrome and Ellis-Van syndrome in autosomal recessive mode of inheritance. Ellis-Van syndrome, LQT syndrome with deafness, etc.  (2) Chromosomal diseases, i.e., diseases caused by chromosomal aberrations. About 50 of the human chromosomal disorders are associated with cardiovascular abnormalities. The common ones are mainly trisomy 21 (Down syndrome), the frequency of cardiovascular involvement in this syndrome is 40% to 50%, mainly endocardial cushion defects, ventricular septal defects and atrial septal defects, and tetralogy of Fallot and transposition of the great arteries have also been reported.  Other cardiac anomalies include aortic and/or pulmonary valve malformations, pulmonary valve stenosis, aortic constriction, transposition of the great arteries, tetralogy of Fallot, right-sided heart and vascular anomalies.  The frequency of cardiovascular involvement in trisomy 13 (Patau syndrome) is approximately 80%, and commonly includes arteriovenous ductus arteriosus, ventricular septal defect, atrial septal defect, pulmonary stenosis, aortic stenosis, and transposition of the great arteries. The majority of children with these three syndromes are thought to be due to chromosomal non-segregation also associated with maternal age at childbirth.  (3) Mitochondrial diseases are a group of genetic disorders caused by mutations in mitochondrial DNA, mainly involving the nervous system and neuromuscular aspects, and some cardiomyopathies belong to mitochondrial diseases.  (4) Polygenic genetic disorders are genetic disorders associated with more than two pairs of genes, and their development is related to both genetic factors and environmental factors, so they are also called multi-factorial inheritance. For example, tetralogy of Fallot, etc.  Children with congenital heart disease will show symptoms such as cyanosis and heart failure. If heart failure occurs in newborns, the child is in serious condition at this time and needs immediate medical treatment.