How to prevent misdiagnosis of congenital heart disease

  1, raise awareness of the causes of congenital heart disease: the cause of congenital heart disease is not very clear, it is currently believed that the disease is a multifactorial disease, the result of the interaction of external factors and genetic factors.  External factors: in utero viral infection, rubella virus infection is the most prominent, other viruses such as cytomegalovirus, coxsackie virus, herpes virus and other infections may also cause the disease; early pregnancy with anticonvulsants, especially phenytoin and trimethoprim, other drugs such as lithium, progesterone, warfarin and amphetamine can also cause cardiovascular malformations; highland areas with low partial pressure of oxygen, advanced maternal age, mothers with diabetes, phenylketonuria The mother, hypercalcemia, malnutrition, amniotic membrane lesions, child pressure, early gestational pre-eclampsia, the impact of radiation, etc. are all likely to cause precordial disease.  Genetic factors: the prevalence of precocious heart disease in mothers and fathers of their children is 3% to 16% and 1% to 3%, respectively, much higher than the prevalence of the population.  Five percent of precardiac diseases are associated with chromosomal abnormalities, and three percent are associated with single gene mutations. Many genetic diseases are associated with precocious heart disease, such as trisomy 21 (congenital stupidity, Down syndrome, etc.), trisomy 18 (Edward syndrome, etc.), trisomy 13 (Patau syndrome, etc.) and other diseases with precocious heart disease accounted for 40% to 45%, 50% to 100% and 80% to 90%, respectively; 5 chromosomal short arm deletion of catarrhal syndrome and sex chromosome XO syndrome (Turner syndrome) with short arm deletion of chromosome 5 and sex chromosome abnormalities were found in 20% and 35% of cases with precocious heart disease, respectively. Among the single gene mutations, Holt-Oram syndrome, Noonan syndrome and Leop-ard syndrome with autosomal dominant inheritance were found in 100%, 50% and 50%, respectively; Ellis-VanCreveld syndrome with autosomal recessive inheritance and Gorlin-Goltz syndrome with X-linked inheritance were found in 50% and 10%, respectively. 10% with congenital heart disease.  2, pay attention to the early diagnosis of congenital heart disease: With the continuous progress of medical technology and diagnostic level, early diagnosis of congenital heart disease has become possible. Early diagnosis of congenital heart disease enables timely and effective treatment of congenital heart disease; at the same time, it can avoid unnecessary misdiagnosis in the future. In recent years, with the development of echocardiography technology, especially high-resolution anatomical images and modern Doppler technology, the use of this technology can examine the heart of fetuses above 16 weeks of gestational age, and necessary interventions can be taken once fetal heart disease is diagnosed prenatally.  Clinicians also need to improve the diagnosis rate of precocious heart disease in newborns, infants and children. Heart murmur is the most common sign, the frequency of 71.43%, neonatal, infant and young children with precocious heart disease murmur more atypical, unstable, murmur does not necessarily have precocious heart disease, especially severe and complex precocious heart disease is often not accompanied by murmurs, but the emergence of continuous, rough, loud murmur, highly suspicious of the possibility of precocious heart disease; cyanosis appears second in frequency, early appearance of severe cyanosis, continuous oxygenation does not relieve Therefore, for children suspected of having precardiac disease, Doppler echocardiography should be performed as early as possible. It can directly display the intracardiac structures, and the diagnostic rate for simple left-to-right shunt can reach 99%, while the diagnostic rate for complex precardiac disease can reach 79.4%.  3, careful medical history, careful physical examination: patients with precocious heart disease, lung reserve capacity is limited, weak activity, after strenuous activity can appear blue lips, poor resistance, easy to “cold”, occasionally existing swelling, urine, breathing effort and other symptoms, these clinical manifestations sometimes appear in early childhood; although some precocious heart disease symptoms appear Although some precardiac diseases appear symptoms later, there is no other heart or lung disease before the appearance of symptoms, and the symptoms have a tendency to increase slowly with age. The most typical sign of precordial disease is a heart murmur, and some patients have cyanosis, pestle-like fingers (toes), dysplasia, and precordial bulge. Clinicians are sometimes busy and visit more patients, often based on the patient’s complaints, without careful physical examination, they easily diagnose some common diseases or maintain the initial diagnosis, sometimes without causing serious consequences, but increasing the patient’s financial burden and wasting the patient’s valuable time. If through careful questioning of the medical history and careful physical examination, some clinical features of precordial disease can generally be found, thus avoiding misdiagnosis.  4, do not ignore the various auxiliary examinations, improve the comprehensive analysis ability: clinicians based on the history, physical examination results can often only make a preliminary diagnosis, while the results of various auxiliary examinations play a key role in confirming the diagnosis of the disease. Physicians cannot easily make one or two diagnoses based on simple history and physical examination, but also select the necessary ancillary tests to confirm or exclude. With the development of imaging technology, cardiac catheterization and imaging technology are no longer the main diagnostic methods for precardiac disease, and cardiac echocardiography has become the most commonly used non-invasive means of diagnosing cardiovascular disease, especially the application of PDE and CDFI technology has greatly increased the rate of confirming the diagnosis of precardiac disease, but there is still a certain The rate of misdiagnosis still exists.  It has been advocated that the implementation of a second- or third-level ultrasonographer responsibility system and the development of rigorous operating procedures can reduce ultrasound misdiagnosis. Recent studies have confirmed the value of transesophageal echocardiography for a variety of congenital cardiovascular diseases and its superiority over transthoracic ultrasound. Each physician should have the ability of comprehensive analysis, because the heart ultrasound has a high rate of diagnostic compliance for congenital diseases, and physicians have more trust in its findings, if the heart ultrasound diagnosis is wrong, it is easy to cause misdiagnosis of the disease, at this time should be combined with the medical history, physical examination, other auxiliary examination results such as chest X-ray, ECG, etc., to conduct a comprehensive analysis, found that there are obvious discrepancies, should consider whether the diagnosis is wrong.  5, dynamic observation of the disease diagnosis and treatment process: any disease has its occurrence, development process, so dynamic observation of the disease diagnosis and treatment process, you can observe the effect of various medical means on the treatment of the disease, the treatment effect can be confirmed from a side whether the original diagnosis is correct, or after treatment is more conducive to obtain the correct diagnosis. For example, in patients with precordial disease with pulmonary hypertension, the shunt between the left and right heart systems is reduced or disappeared due to the increase of pulmonary artery pressure. If the abnormal shunt bundle is not found in the ultrasound examination, but the chest X-ray examination shows enlarged right heart, bulging pulmonary artery segment and right heart hypertrophy in the electrocardiogram, it is easy to misdiagnose as primary pulmonary hypertension. However, after various treatments to lower the pulmonary artery pressure, the patient’s symptoms improve and the reexamination of cardiac ultrasound shows a decrease in pulmonary artery pressure, which means that the diagnosis of pulmonary hypertension can be established; in addition, because of the decrease in pulmonary artery pressure, the pressure step difference between the left and right heart systems increases, and the cardiac ultrasound can easily detect the abnormal cardiovascular shunt bundles, thus reducing the occurrence of misdiagnosis.  6, improve the vigilance of non-children patients: the incidence of adult precardiac disease is significantly lower than that of children and infants, generally children with cardiac and pulmonary insufficiency and heart murmurs on auscultation will think of the possibility of precardiac disease, while patients in areas with poor medical conditions and small hemodynamic effects on the body may not always be able to obtain a diagnosis before childhood. Since there are no obvious clinical symptoms in early childhood, in adulthood if there is chest tightness after activity, shortness of breath, cough, hemoptysis, or a heart murmur on auscultation, one would first consider wind heart disease, pulmonary heart disease, bronchiectasis, etc. However, the presence of precordial disease is not difficult to diagnose through careful cardiac auscultation and some auxiliary tests as necessary. Therefore, it is important to raise the vigilance of patients with non-children’s precardiac disease and to always suspect the presence of precardiac disease when encountering adults complaining of clinical symptoms in the heart and lungs, so as to effectively reduce misdiagnosis.