Concerns of family members of patients with precardiac disease

  1.How does precocious heart disease cause?
  It is caused by the combination of genetic and environmental factors during the embryonic period, resulting in the abnormal development of heart vessels, and its heritability is 55-65%. Most scholars believe that, in addition to a few precardiac disease is caused by single gene mutations and chromosomal aberrations, most precardiac disease is a polygenic genetic disease, caused by the interaction of genetic and environmental factors, and some studies of families with a high incidence of precardiac disease also confirm this. Precardiac disease not only involves multiple genes, but also is related to the sequential expression and interaction of these genes at different times and in different spaces. Any qualitative or quantitative abnormalities in the expression of any of these genes may affect the development of the heart and lead to the occurrence of precardiac disease. In addition to genetic factors, there are more environmental factors that cause congenital heart disease. The mother’s older age at pregnancy, the father’s alcohol consumption, the mother’s use of aspirin, tetracycline, birth control pills in early pregnancy, exposure to chemical poisons, and the development of rubella and colds are risk factors for the development of congenital heart disease. In conclusion, the causes of congenital heart disease are complex, and the specific mechanism of its occurrence is still under study.
  2.Is congenital heart disease hereditary?
  Congenital heart disease is related to genetic factors, the specific genetic mechanism is still not completely elucidated, the mother who has a member of the immediate family with congenital heart disease has a significantly higher chance of giving birth to a child with congenital heart disease than the normal population. The children with congenital malformations of certain genetic diseases are often combined with precocious heart disease.
  3.How can I prevent the occurrence of precocious heart disease?
  For example, in the United States, 90% of pregnant women undergo fetal echocardiography before delivery, resulting in a significant reduction in the birth rate of children with precocious heart disease. In developed countries, folic acid is taken by pregnant women at a high rate to prevent neural tube abnormalities, and recent studies have shown that taking a certain amount of folic acid before pregnancy can also effectively prevent the occurrence of heart malformations. With the rapid economic growth in China in the past 30 years, the impact of environmental factors changes on the occurrence of congenital heart disease should also draw sufficient attention to avoid possible risk factors associated with congenital heart disease, such as early pregnancy infection, family history of congenital heart disease, advanced pregnancy and the impact of radiation, heavy metals, organic solvents, smoking, alcohol abuse, toxins, drugs and other factors. In addition, congenital heart disease as a kind of congenital birth defects, attention to eugenics is the most basic preventive measures.
  4, how high is the incidence of congenital heart disease?
  The incidence of congenital heart disease in newborns is about 0.7%, is the highest incidence of a class of birth defects. China has 2 million patients with precocious heart disease, and the annual rate of increase of 100,000 people. According to the data from 1993 to 1995, there were 1,000,000 cases of precocious heart disease in the United States, with an incidence rate of 0.34%. Nine out of every 1000 surviving newborns have a heart defect. The highest incidence is aortic diastasis, which can reach 1.37% (based on the proportion of live births, which may be higher if stillbirths are included), although most of these malformations do not require intervention in infancy and are ignored because they are not easily detected, but symptoms will appear in adulthood and require intervention.
  5. How high is the natural mortality rate of congenital heart disease?
  According to studies, one-third of infants and children who die from congenital defects are children with or combined with precocious heart disease. The lack of effective prevention methods for precocious heart disease, coupled with the fact that half of untreated precocious heart disease dies by age 1 and 2/3 by age 2. According to the American Heart Association, 30 percent of childhood deaths are due to prediabetes, and the number of deaths from prediabetes is nearly twice as high as those caused by childhood tumors. In the United States, about 213,000 people died of precardiac disease before the age of 65 in 2000, which is about the same as the number of deaths from leukemia, prostate cancer and Alzheimer’s disease combined.
  6. Which precocious heart diseases are the most common?
  Among the onset of congenital heart disease, aortic diastasis, ventricular septal defect, atrial septal defect, patent ductus arteriosus and pulmonary valve stenosis are the most common congenital intracardiac malformations in clinical practice.
  7.What are the symptoms of congenital heart disease?
  Congenital heart disease can be asymptomatic, and the severity of symptoms is not necessarily proportional to the severity of the disease. Common symptoms of congenital heart disease include cyanosis, chest tightness, shortness of breath, panic, decreased exercise tolerance, syncope, swelling, sweating, dysplasia, recurrent pneumonia, susceptibility to colds, precordial bulge, and heart murmurs. In small infants, they show feeding difficulties, developmental delay, coughing and shortness of breath during feeding, unexplained paroxysmal crying, and cyanosis during crying.
  8.Why are some children with precocious heart disease cyanotic and some not?
  There are two types of precocious heart disease: cyanotic and non-cyanotic. Most of the cyanotic precardiac diseases have right-to-left shunt, which causes the blood in the body circulation to be mixed with non-oxygenated blood; while non-cyanotic precardiac diseases do not have shunt or have left-to-right shunt, and the blood in the body circulation is oxygenated; we cannot simply judge whether the precardiac disease is serious or not and the prognosis by the presence of cyanosis.
  9.What are the diagnostic methods of congenital heart disease?
  The diagnosis of congenital heart disease is the same as other diseases, medical history and physical signs are crucial. But modern auxiliary tests are also indispensable. In addition to routine tests such as electrocardiograms and full chest radiographs, specific tests related to the heart can provide detailed information about the disease, which is important for further treatment. These specific tests include both non-invasive and invasive diagnostics.
  Non-invasive diagnostic tools for precardiac disease are commonly used: echocardiography and magnetic resonance imaging (MRI) and computed tomography (CT) scans. Echocardiography has now become a routine test for the diagnosis of pediatric heart disease, and this method has the advantages of being relatively accurate, simple, non-invasive, repeatable, and relatively inexpensive. Magnetic resonance imaging (MR) and CT are other emerging non-invasive diagnostic imaging methods, including planar imaging, cine imaging and 3D reconstruction imaging, which in combination with imaging can provide an accurate anatomical diagnosis of many heart diseases and are valuable for accurate preoperative evaluation.
  Cardiac catheterization and cardiovascular angiography are commonly used for the atraumatic diagnosis of precordial disease. Cardiac catheterization is divided into two types: right heart and left heart catheterization. Right heart catheterization is performed by percutaneous puncture of the femoral vein and delivery of a cardiac catheter through the inferior vena cava to the right atrium, right ventricle and pulmonary artery. Left heart catheterization involves percutaneous puncture of the femoral artery and retrograde catheterization through the descending aorta to the left ventricle. The role of cardiac catheterization is that right heart catheterization is useful to understand the right side of the heart, whether there are abnormal channels and pressure and other cardiac hemodynamic changes, but it does not directly reflect the left heart pathology. Likewise, left heart catheterization focuses on pathophysiological changes in the left atrium, left ventricle and aortic pressure. Cardiac catheterization helps to clarify the diagnosis of precordial disease and provides accurate hemodynamic information. Cardiac angiography, on the other hand, is performed with the help of a cardiac catheter (usually the catheter is changed after the cardiac catheterization) to inject contrast directly and rapidly into a selected part of the heart or large blood vessels for cine film, which can clearly show whether there are abnormalities in the atria, large blood vessels, valves and internal structures of the heart; whether there are abnormal channels between the heart and large blood vessels; and also reflect the functional status of the heart, thus greatly improving the diagnosis of precardiac disease, especially in complex precardiac disease. It also reflects the functional status of the heart, thus greatly improving the diagnosis rate of precardiac disease, especially complex precardiac disease.
  10.Can precocious heart disease be diagnosed in the fetal stage?
  In the past 10 years or so, a few hospitals in China have started to carry out prenatal screening and diagnosis of fetal precocious heart disease, which has reduced the birth of fetuses with serious precocious heart disease to a certain extent. However, compared with developed countries, there is still a big gap in the diagnosis of fetal precocious heart disease in terms of hardware and equipment, as well as the national technical level compared with developed countries. Prenatal diagnosis of precocious heart disease can serve three purposes.
  (1) for severe precocious heart disease the option to terminate the pregnancy under the principle of informed consent.
  (2) For those who continue the pregnancy to choose a suitable hospital for delivery and timely perinatal management.
  (3) For some cases of cardiac insufficiency or tachycardia, intrauterine treatment can be implemented, which is still at the stage of animal experiments in China. More studies have been done abroad on the significance and value of prenatal diagnosis of precordial disease, while there is a lack of relevant information in China. Due to the difference of national conditions and ideology, for fetuses with severe heart disease, most domestic choose to terminate the pregnancy and abandon the fetus, while foreign data show that there are still many choices to continue the pregnancy for complicated precocious heart disease diagnosed above 22 weeks.
  11.What are the consequences of untreated precocious heart disease?
  There are many types of congenital heart disease. Some congenital heart disease malformations are more serious, such as septal intact transposition of the great arteries, and most of the children die in the neonatal period, so this type of disease requires timely surgery, but because the child is too young, poor tolerance to surgery, the risk of surgery is greater. Another part of precardiac disease, which is not life-threatening at the moment, but has poor cardiac function due to heart malformation, large intracardiac shunts or systemic hypoxia causing physical and intellectual development to be affected, or repeated whistling system infections due to a lot of pulmonary blood, also needs timely surgical treatment, otherwise the child is prone to die from infections, or physical development is limited. Another type of situation is the occurrence of pulmonary hypertension, a large number of left-to-right shunts in some patients can remain asymptomatic, to the diagnosis has been combined with severe pulmonary hypertension, when most children have lost the opportunity to operate or the best time to treat, instant reluctance to operate, surgery is extremely risky and poor long-term results. Therefore, it is important to consult a cardiac surgeon when you find precordial disease to avoid delaying the treatment.
  12.When is the best time to operate?
  The general rule is that the older a child is, the more he or she can tolerate the shock of heart surgery. According to this rule, the surgery should be performed when the child is as old as possible. Of course, we also have to consider the severity of the disease at the same time. If the disease is more serious and life-threatening, the surgery should be performed as soon as possible. Also, if the child has developmental feeding difficulties, developmental delays, and recurrent whistling infections, surgery should be performed as soon as possible. In addition, if the disease can cause some secondary damage, such as pulmonary hypertension, embolism, secondary obstruction, valve damage, intracardiac infection, etc., then early elective surgery is also required. Of course many sociological factors also need to be taken into account when choosing the timing of surgery.
  13.Can I take medicine to treat my precardiac disease?
  Most precardiac diseases require surgery, but some of them require medication before and after surgery.
  14.Can interventional treatment be performed for precardiac disease?
  Surgery is the traditional method for treating precocious heart disease, which has very rich experience and treatment effect, and is still developing. However, surgery for precardiac disease is very traumatic, and sometimes serious complications or unsatisfactory results of surgical treatment can occur after surgery. Neonates and premature and low weight infants tolerate surgery poorly, with high surgical risks and postoperative complications. With the development of medicine, small incision, thoracoscopic, non-extracorporeal circulation surgical and interventional techniques have been attempted to greatly improve surgical outcomes and reduce surgical complications and deaths. Interventional and hybrid procedures combined with surgical techniques are increasingly used in the treatment of pediatric precardiac disease, but the application of these new techniques requires technical innovation and evaluation of efficacy and complications, and the development of these efforts is still in its infancy. At present, interventional treatment of arteriovenous ductus arteriosus and ventricular septal defect can be selectively performed with good early and mid-term results, but long-term results remain to be evaluated. Interventional treatment of ventricular septal defects has many problems, such as damage to the aortic and tricuspid valves, and problems affecting the conduction bundle leading to third-degree atrioventricular block, and postoperative cardiomyopathy of unknown origin has been reported.
  15.Can I be like a normal person after surgery for precordial disease?
  Generally speaking, the lighter the deformity, the easier it is to correct and the better the result. On the contrary, the more serious the deformity, the more difficult it is to correct and the poorer the result, some of them cannot even undergo radical surgery, but can only undergo palliative surgery or reduction surgery, and they may need to undergo secondary or even tertiary surgery in the long run.
  16.What should I pay attention to after surgery for precordial disease?
  (1) Take medication as prescribed by the doctor, do not stop medication on your own.
  (2) After cardiac surgery with extracorporeal circulation, fluid intake still needs to be restricted in the early stage.
  (3) If there is difficulty in inspiration, sputum, fever, edema, cyanosis, timely follow-up.
  (4) No special dietary contraindications, but a balanced nutritious diet with easy digestion and absorption of high nutrition should be the main focus.
  (5) Return to the hospital for review as prescribed by the doctor.
  17.Does the myocardial scar caused by the surgery of precordial disease bring about long-term problems?
  Theoretically, scarring on the myocardium can cause arrhythmias, and there are reports of such problems. However, most of the cases are benign arrhythmias and there are fewer cases of malignant arrhythmias. The available data suggest that myocardial scarring does not significantly affect long-term survival and quality of life.
  18.Do I need to take anticoagulants after surgery for precordial disease?
  There are postoperative antiplatelet medications required for some precardiac diseases, such as Fontan-type surgery, application of body-pulmonary bypass with artificial tubing. Stronger anticoagulation therapy is required after performing prosthetic valve replacement, and children with prosthetic rings also require anticoagulation therapy for 3 months to 6 months. Most preoperative heart surgery does not require anticoagulation after surgery.
  19.Will extracorporeal circulation cause damage to other organs?
  The process of extracorporeal circulation is a low-temperature, low-flow, non-pulsatile perfusion process, which is different from the normal circulatory state, and a short period of extracorporeal circulation will not have much effect on most organs. However, the extracorporeal circulation process may also have varying degrees of embolism, with embolism in the brain being the most common. Studies on cognitive function after extracorporeal circulation still have different conclusions.
  20.Do I need to take long-term medication after surgery?
  Most children do not require long-term oral medication after surgery for precardiac disease, but children with poor postoperative cardiac function and those requiring long-term antiplatelet therapy and anticoagulation will require long-term oral medication.