4 Congenital Heart Disease


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  • William Harvey (1578-1657) : De motu cordis et sangunis 1628 William Harvey, one of the most gifted pupils of Fabricius (1578-1657), combined all these individual findings with the results of his own research to form the general picture of what we today call the circulation of the blood. But even he had no clear idea of the circulation in the region of the capillaries. This section was explained and described for the first time by Malpighi in 1661, after he had viewed a frog's lung under a microscope. In any event, it is the year 1628, in which Harvey published his classic work De motu cordis et sangunis, that we can call the birth-year of cardiology.
  • 1896 closure of a stab would in the right ventricle in Frankfurt am Main by Prof. Dr. Ludwig Rehn. Patient developed empyema but eventually survived.
  • (Johann von Mikulicz,in) 1903 assigned Ferdinand Sauerbruch (1875-1951) to work on open chest surgery, negative pressure chamber Sauerbruch on October 1, 1903 came to Johannes von Mikulicz-Radecki (1850-1905) in the university surgical clinic at Breslau. As an ambulant physician (Volont ä rarzt) Sauerbruch here conducted his first attempts at thoracic surgery and started to work on his most important invention: a negative-pressure chamber enabling the safe opening of the chest while conducting a pneumothorax. After series of test on animals, Sauerbruch proudly presented his contraption to Mikulicz-Radecki – but the experiment misfired. Mikulicz-Radecki felt insulted and dismissed Sauerbruch from his clinic. Sauerbruch continued his experiments at a private clinic and eventually won the acceptance of Mikulicz-Radecki. Together they presented the under-pressure apparatus at the surgical congress in Berlin. The first operation conducted on a human failed, however, but subsequently thoracical surgery using the under-pressure chamber advanced rapidly. On June 8, 1905 Sauerbruch was habilitated with the thesis Experimentelles zur Chirurgie des Brustteils der Speisr ö hre. Only six days later he attended the funeral of his teacher Mikulicz-Radecki.
  • Werner Forssmann ( August 29 , 1904 – June 1 , 1979 ) First Cardiac Catheterization in 1929 received The Nobel Prize in Medicine 1956 Forssmann ’ s Nobel Price Lecture: The Role of Heart Catheterization and Angiocardiography in the Development of Modern Medicine The ancient world and the Middle Ages had no idea of the existence of the circulation of the blood. It was not until the Late Renaissance that efforts were made to grasp this process anatomically and understand its function. Thus, Miguel Serveto searched in vain for a connection between the right heart and the left, and in so doing discovered the lesser circulation in 1553. In 1569, Caesalpinus traced the path of the large circulation. Jacobus Sylvius (1543), Canani (1564), and Fabricius of Aquapendente (1574) concurred in recognizing the centripetal movement of the venous bloodstream from the structure and arrangement of valves in the veins. Before their time it had been believed that blood flowed outwards to the periphery, even in the veins. William Harvey, one of the most gifted pupils of Fabricius (1578-1657), combined all these individual findings with the results of his own research to form the general picture of what we today call the circulation of the blood. But even he had no clear idea of the circulation in the region of the capillaries. This section was explained and described for the first time by Malpighi in 1661, after he had viewed a frog's lung under a microscope. In any event, it is the year 1628, in which Harvey published his classic work De motu cordis et sangunis , that we can call the birth-year of cardiology. However, this great discovery appears to have had no immediate effect on the method of observing the function of the sound and sick heart. This had to wait some 170 years, until, at the end of the eighteenth and the beginning of the nineteenth centuries, scientific methods of examination made their appearance in medicine. The beginning of this epoch was marked by the introduction of digitalis for the treatment of oedema, achieved by William Withering in 1785. Further milestones on the way were the introduction of percussion by Auenbrugger in 1761 and of auscultation, by La ë mec. These innovations made the increasingly refined discoveries of the new science of pathology useful at the sickbed. The last landmark of this period was Einthoven's introduction of the electrocardiogram into clinical practice and research rays, discovered shortly before, enabled the grosser modifications of the heart's structure to be seen even in a living person. With this, cardiology had entered a stage of stagnation, which made it necessary to seek new and more exact methods than those hitherto available. The starting-point of the modern trend in research came from classic French experimental physiology, notably the trials on animals to obtain blood for metabolism experiments described by Claude Bernard in his Physiologie op é rative . In particular, the procedure employed by Chauveau and Marey in 1861 became the model. They were the first to achieve measurement of blood pressure inside the heart and the recording of pressure curves from the interior of the heart of a living animal. This was done with manometers, which were led from the neck vessels into both compartments of the right heart as well as into the left heart chamber. But even Claude Bernard, Chauveau, and Marey had been forestalled. As far as I know, the credit for carrying out the first catheterization of the heart of a living animal for a definite experimental purpose is due to an English parson, the Reverend Stephen Hales. This scientifically interested layman undertook in Tordington in 1710, 53 years after the death of William Harvey (1578-1657), the first precise definition of the capacity of a heart. He bled a sheep to death and then led a gun-barrel from the neck vessels into the still-beating heart. Through this, he filled the hollow chambers with molten wax and then measured from the resultant cast the volume of the heart-beat and the minute-volume of the heart, which he calculated from the pulse-beat. Besides this, Stephen Hales was also the first, in 1727, to determine arterial blood pressure, when he measured the rise in a column of blood in a glass tube bound into an artery. In 1912, Unger, Bleichr ö der, and Loeb published a work under the title Intra-arterial therapy . They were at that time aiming at a special chemotherapy for puerperal sepsis. In order to bring a drug in the greatest possible concentration to the place where it was needed, they wanted to insert ureter catheters into human patients from the leg arteries up to the presumed height of the fork of the aorta and inject from there. After experiments on animals, they carried out vein probings on four people as a preliminary trial from the point of view of intra-arterial therapy. These caused no ill effects. No X-ray checks were used, nor were the cardiological aspects taken into consideration. In 1928, the Italian Montanari carried out probing of the right heart on animals and on the human cadaver. Here I may as well review my own first attempts at probing the right heart, undertaken in 1929 and based on the work of Chauveau and Marey. The reason they at first made no headway was because, in the years 1929-1931, all the technical requirements for the planned investigations were lacking and had first to be laboriously created. So it can be understood that it was some time before the broad outlines of important problems of developing modern cardiology could be seen emerging from my admittedly rather unusual experimental procedure. Perhaps it is significant that the pioneer work of O. Frank and Broemser on the development of the manometer also took place in these years. Thus the experimental methods and the results they yielded needed many years to come to fruition. They achieved their modern practical significance only because fundamental discoveries had been made in other fields, for example in modern anaesthetic techniques, in antibiotics and through the pioneering publications of Helen Taussig, which in time bore further fruit. Nevertheless, in 1930, about six months after my first publication, O. Klein reported from Nonnrenbruch's Prague clinic on a series of patients whose heart minute-volumes he had ascertained according to Fick's principle, by means of the heart catheter. This procedure has its place even today in the standard practice of heart and lung clinics. At the same time; I carried out my first experiments in angiocardiography. Here for the first time the living heart of a dog was successfully visualized radiologically with the aid of a contrast medium. Even at that time, the complete lesser circulation in the dog could be shown with the cinematographic radioscopy according to Gottheiner. Although no results could be attempted with human beings, because no apparatus had been devised, their possibility had at least been demonstrated in principle. Only four months after this publication, Moniz, Carvalho, and Lima were able to disclose rather better results. with them began the immense quantity of writing on angiocardiography. Further development of technique was impeded not only by the absence of technical essentials and consequent lack of knowledge. To some outsiders, ethical considerations also weighed heavily in the balance against it. And when one thinks how hard men like Cournand and McMichael had to fight against such people in 1941 and later, one can perhaps understand what difficulties stood in my way twelve years before. A turning-point in the history of cardiology is the year 1941, when Cournand and Ranges made known their first experiments with the heart catheter as a clinical method of investigation. But he will be reporting on this himself. The work of Cournand and Richards and their pupils had fanned a small flame into a blazing fire which began to rage all over the world. The Cournand-Richards school achieved particularly fruitful results in the United States and Scandinavia. In England, McMichael is the most important advocate of this method of investigation. His great service is his employment of it to solve pharmacological problems. For Cournand and McMichael, too, as they have told me themselves, the beginning was not easy. They, too, had strong resistance to overcome, the harder to deal with because people did not hesitate to obstruct practical research work with threadbare ethical and moral objections, such as are still occasionally raised today. But these voices also must fall silent now it has been shown, how responsibly this circulation research has been conducted everywhere and with what high moral earnestness it has been applied. And so now there is an army of diligent men and women at work, an army so big that it is impossible in this context to mention any beyond those named. You must pardon this omission. As for angiocardiography, this method has given strong new impetus not only to cardiology, but also to X-ray technology as a whole. Whereas earlier X-ray diagnosis stopped short at explaining the morphology from the reproduction of shadows, here a leap was made right to the core of the function. At this point, the close and inseparable interrelation of heart and lungs became obvious - something we had certainly guessed at, but which previously we could not grasp. And so, with the selective angiography of the lung vessels (Bolt, 1949-1950), our knowledge was consciously extended to the outermost periphery. With this, heart catheterization had burst the bounds of cardiology in the stricter sense, and now set about conquering other fields of research. Right at the start of my experiments upon animals it had occurred to me, as to other investigators, that one could penetrate diagonally through the right auricle from the upper into the lower vena cava. Now use is made of this path to collect blood from the liver, and it is to be hoped that many long-standing questions of metabolism will be solved in this way. The kidney, too, is accessible in the same manner. Thus it can be seen that heart catheterization must in no way be looked upon as an almost worked-out field of research. Angiocardiography, in the form in which it is practised today, is of course still burdened with risks which impose limitations on its use. Its use cannot therefore be justified for examinations which are not strictly necessary, but here, too, new possibilities can be discerned. Further development will in many cases enable us to dispense with the massive and dangerous quantities of contrast media which at the moment we still need, and to manage instead with smaller, less harmful amounts of radioactive isotopes. Their progress through the small circulation can already be followed in outline with Gripping's isotope retina, and shown graphically. From all this, we can see that modern cardiology has become something much more universal than was originally supposed. One may compare the art of healing with a work of art, which from different standpoints and under different lighting reveals ever new and surprising beauty. So, besides the epochs of cellular and humoral pathology and many others, we can now perhaps speak of an age of cardiological and circulatory investigation. We do this with the comforting awareness that, by the correct application of their teaching, earlier discoveries remain useful to us, for they now appear in a new light. Thus we guard ourselves against the mistake which runs all through the history of medicine: that of concentrating dogmatically upon first one, then another facet of research, instead of standing back to view the whole as a growing entity. From Nobel Lectures , Physiology or Medicine 1942-1962 , Elsevier Publishing Company, Amsterdam, 1964   Copyright © The Nobel Foundation 1956
  • Helen Brooke Taussig , M.D. , ( 1898 - 1986 ) was an American cardiologist , working in Baltimore and Boston, who founded the field of pediatric cardiology. Notably, she helped develop the Blalock-Taussig shunt in cooperation with Dr. Alfred Blalock and Vivien Thomas , to treat blue baby syndrome Blalock-Taussig shunt , first performed by Taussig and Dr. Alfred Blalock on an 11-month old baby girl on November 29,1944. Taussig wrote the book Congenital Malformations of the Heart in 1947 In 1959, she was one of the first women to be awarded a full professorship at Johns Hopkins University
  • First successful surgical repair of the heart on September 2 , 1952 by Walton Lillehei ( 1918 – 1999 ) under hypothermia Lillehei performed surgeries using cross-circulation, in which a donor was hooked up nearby to take up the pumping and oxygenation functions of the patient as he was being operated on. Using this technique, Lillehei led the team that performed successful repair of a ventricular septal defect on March 26 , 1954 . Although the repair was successful, the patient, 13-month old Gregory Glidden, died 11 days later of suspected pneumonia. Lillehei and his team continued to use cross-circulation for a total of 44 open-heart operations in the following year, of which 32 patients survived. These surgeries included the first repairs of the and tetralogy of Fallot . Working with Dr. Richard A. DeWall, Dr. Lillehei developed the first clinically successful bubble oxygenator which supplanted the use of cross-circulation in 1955 . The availability of the simple Lillehei-DeWall oxygenator allowed for tremendous growth of open heart surgical programs the world over. (With Gibbon ’ s HLM on May 6, 1953, surgery using the heart-lung machine was successfully performed on the first human, 18-year-old Cecilia Bavolek, to close a hole between her upper heart chambers. Gibbon ’ s bypass machine was first employed at the Mayo Clinic on a five year old girl on March 23, 1955. Dr. Kirklin was the cardiac surgeon.) In 1958 , Lillehei was responsible for the world's first use of a small, external, portable, battery-powered pacemaker , invented at his behest by Earl Bakken (whose then-small company, Medtronic , designed and repaired electronics for the University of Minnesota hospital). Lillehei also developed and implanted the world's first prosthetic heart valves : the Lillehei-Nakib toroidal disc ( 1966 ), the Lillehei-Kaster pivoting disc (1967), and the Kalke-Lillehei rigid bileaflet prosthesis ( 1968 ).
  • Jacqueline Noonan (1921-) Genetics of Noonan syndrome Noonan syndrome was recognized early on as an autosomal dominantly inherited disorder, but the majority of cases appeared to be sporadic. Dr. Allanson in 1985 (24) made the important observation that the phenotype of Noonan syndrome changes significantly over time. She found if photographs of parents taken at the same age as their affected child and compared they would frequently suggest one of the parents also had Noonan syndrome. As is common in autosomal dominantly inherited disorders, there is often great variability in expression and mild cases may go unrecognized. In 1994 Jamison et. al (25) studied some familial cases of Noonan syndrome and were able to map the gene for Noonan syndrome to the long arm of chromosome 12. Not all families with Noonan syndrome showed linkage to this chromosome suggesting that there was more than one genetic cause for Noonan syndrome. Recently, using new information provided by the human genome project, the group headed by Dr. Bruce Gelb (26), identified the Noonan syndrome gene on chromosome 12. This gene is called PTPN-11 and regulates the product of a protein named SHP-2. This is a protein essential in several intracellular single transduction pathways that control a number of developmental processes including cardiac semilunar valvular genesis. Valvular pulmonary stenosis with a dysplastic pulmonary valve is the most common lesion found in Noonan syndrome. This suggested that the PTPN-11 gene would be a likely candidate since mice with a mutated gene often had aortic and pulmonary stenosis. Patient studies included two moderate size families who had shown linkage to chromosome 12. All affected members showed missence mutations in the PTPN-11 gene. An additional 22 unrelated individuals with Noonan syndrome representing sporadic or small families were also studied. Half of these had missence mutations in PTPN-11 similar to the family studies. A more recent report (27) now includes studies in 119 individuals with Noonan syndrome. 54 of the 119 or 45% were demonstrated to have mutations. There was a higher prevalence of mutations in familial cases than in sporadic. Among those patients with Noonan syndrome and pulmonary valve stenosis, PTPN-11 mutations were found in 70.6% while those with Noonan syndrome and hypertrophic cardiomyopathy showed a lower incidence of 5.9%. In the not too distant future, it should be possible to screen for PTPN-11 in other Noonan syndrome like conditions such as Cardio-facio-cutaneous, Leopard and Noonan-neurofibromatosis syndromes. It is also likely that in the future linkage studies in other families with Noonan syndrome will map to a specific chromosome and other genes will be identified that are responsible for those cases of Noonan syndrome not due to a mutation of the PTPN-11 gene. For the first time, there is hope that a genetic test will be available to make a firm diagnosis of Noonan syndrome. Up to the present time the diagnosis relies on clinical findings alone.
  • 4 Congenital Heart Disease

    1. 1. Congenital Heart Disease, (CHD) mbbs.weebly.com
    2. 2. Scientific medicine begins one of the most gifted pupils of Fabricius (1578-1657), to form the general picture of what we today call the circulation of the blood. But even he had no clear idea of the circulation in the region of the capillaries. William Harvey
    3. 3. Prof. Dr. Ludwig Rehn 1896 closure of a stab would in the right ventricle in Frankfurt am Main by Prof. Dr. Ludwig Rehn. Patient developed empyema but eventually survived.
    4. 4. Ferdinand Sauerbruch (1875-1951) A negative-pressure chamber enabling the safe opening of the chest while conducting a pneumothorax was deviced After series of test on animals, on October 1, 1903
    5. 6. Cardiac Catheterization Werner Forssmann August 29 , 1904 – June 1 , 1979 ) First Cardiac Catheterization in 1929 received The Nobel Prize in Medicine 1956
    6. 8. ( 1898 - 1986 ) was an American cardiologist , working in Baltimore and Boston, who founded the field of pediatric cardiology. Notably, she helped develop the Blalock-Taussig shunt in cooperation with Dr. Alfred Blalock and Vivien Thomas , to treat blue baby syndrome Helen Brooke Taussig, M.D.
    7. 9. the book- Congenital Malformations of the Heart in 1947 Blalock-Taussig shunt , first performed on an 11-month old baby girl on November 29,1944.
    8. 10. In 1959, she was one of the first women to be awarded a full professorship at Johns Hopkins University
    9. 11. Extracardiac Repair and Palliation <ul><li>PDA R.GROSS 08/26/38 </li></ul><ul><li>COARCT. C.CRAFORD 10/01/44 </li></ul><ul><li>S-P SHUNT BLALOCK-TAUSSIG 11/29/44 </li></ul><ul><li>PA BAND DAMMON-MULLER 1952 </li></ul>
    10. 12. PDA R.GROSS 08/26/38
    11. 14. First successful surgical repair of the heart on September 2 , 1952 by under hypothermia performed surgeries using cross-circulation, in which to take up the pumping and oxygenation functions of the patient as he was being operated on March 26 , 1954 Walton Lillehei ( 1918 – 1999 )
    12. 15. Jacqueline Noonan (1921-) Genetics of Noonan syndrome
    13. 16. Noonan Syndrome <ul><li>Noonan JA. Hypertelorism with Turner phenotype. Am J Dis Child.1968;116:373-380 </li></ul>
    14. 17. PGE & Imaging <ul><li>Early ’ 70s-M-mode echo in CHD </li></ul><ul><li>1974-First 2D images </li></ul><ul><li>1975-First reports of PGE use </li></ul><ul><li>1977-Axial Angiography </li></ul><ul><li>1978-First reports of subxiphoid 2D imaging in CHD </li></ul><ul><li>1980s-Doppler studies, fetal studies </li></ul><ul><li>Late ’ 80s-90s-TEE, intraoperative studies </li></ul>
    15. 18. New Advances <ul><li>Cardiac Imaging: </li></ul><ul><ul><li>Echocardiography </li></ul></ul><ul><ul><li>Cardiac MRI/CT </li></ul></ul><ul><li>Cardiac Intervention (Cath lab) </li></ul><ul><li>Heart Failure: </li></ul><ul><ul><li>Medications </li></ul></ul><ul><ul><li>Biventricular Pacemaker (synchronization) </li></ul></ul><ul><ul><li>Heart Transplantation/Surgery (assist devices) </li></ul></ul><ul><li>Gene Therapy … </li></ul>
    16. 19. Pediatric Cardiology: Summary <ul><li>1938-Essentially no Rx for CHD </li></ul><ul><ul><li>Pioneers-pathologists, cardiologists, surgeons, imaging experts, intensivists, interventionalists </li></ul></ul><ul><li>2008-Rx for virtually all CHD, BUT mort./morb.: </li></ul><ul><ul><li>ventricular function </li></ul></ul><ul><ul><li>arrhythmia </li></ul></ul><ul><ul><li>cns </li></ul></ul><ul><ul><li>valves/conduits </li></ul></ul><ul><ul><li>pulm hypertension </li></ul></ul><ul><li>New frontiers-causation, gene-based Rx, CHF Rx, Arrhythmia Rx, imaging, safety of CPB, PVR </li></ul><ul><li>An incredibly exciting run--much for the future </li></ul>
    17. 21. Beginner (pioneer ) in China 刘薇廷教授 陈为敏教授
    18. 22. Controlled Cross-circulation 3/26/54-7/19/55 <ul><li>NO. MORT. <2Y MORT. </li></ul><ul><li>VSD 28 8(28%) 16 6(37%) </li></ul><ul><li>TOF 11 4(36%) 5 3(60%) </li></ul><ul><li>CAVC 4 3(75%) 3 2(67%) </li></ul><ul><li>IPS 2 0 </li></ul><ul><li>45 15(33%) 24 11(49%) </li></ul>
    19. 23. Early Open Heart Surgery With Heart-Lung Machine <ul><li>C.Dennis 1952 2/2 Died </li></ul><ul><li>J.Gibbon 1953 5/6 Died </li></ul><ul><li>J.Helmsworth 1953 1/1 Died </li></ul><ul><li>D.Dodrill 1953 2/2 Died </li></ul><ul><li>G.Clowes 1953 2/2 Died </li></ul><ul><li>W.Mustard 1953/54 5/5 Died </li></ul><ul><li>17/18 94.5% Died </li></ul>
    20. 24. Definition <ul><li>CHD : the maldevelopment of heart and great vessels to cause abnormalities when the embryo period </li></ul>—— existing when being born —— incidence:0.5~1 % —— The heart: complex hollow organ —— More common : -> in children: CHD -> In adult : athero-sclerotic heart disease
    21. 25. The Cardiovascular formation Embryo development of the heart <ul><li>the primitive cardiac tube forms </li></ul><ul><li>During the first month of </li></ul><ul><li>Gestation (the second week) </li></ul><ul><li>Sinoatrium: SA </li></ul><ul><li>primitive ventricle: V </li></ul><ul><li>bulbus cordis: BC </li></ul><ul><li>Conotruncus: TA </li></ul><ul><li>2 weeks after insemination </li></ul><ul><li>formation start </li></ul><ul><li>4 weeks circulation start </li></ul><ul><li>8 weeks four chamber heart </li></ul>
    22. 26. The separation of the atrioventricular canal -> endocardial cushions -> tricuspid/ mitral inlets Formation of the separation of the heart , valves, arterial and venous system <ul><li>Sinoatrium -> right and left atria </li></ul><ul><li>primitive ventricle/ bulbus cordis </li></ul><ul><li>-> right and left ventricle </li></ul><ul><li>truncus -> aorta and pulmonary </li></ul><ul><li>The separation of the </li></ul><ul><li>atrium and ventricular </li></ul><ul><li>Formation of the </li></ul><ul><li>membranous part of </li></ul><ul><li>interventricular septum </li></ul>
    23. 27. Cardiac development Formation of a single Heart tube Formation of the heart loop
    24. 28. Cardiac development Out flow tract septation Septation of four chambers
    25. 29. 原发房隔 原发孔 继发房隔 原发房隔 继发孔 继发房隔 Atrial septation
    26. 30. Fetal development One month 5th week 6th week 8th week
    27. 32. Fetal and postnatal circulations 胎儿血循环与出生后改变
    28. 33. normal blood circulation way
    29. 34. Diagrammatic representation of fetal circulation
    30. 35. Fetal circulation
    31. 36. 通过动脉导管 通过卵圆孔 血氧含量较高 血氧含量较低 通过静脉导管 Fetal circulation 下腔静脉 右心房 右心室 左心房 左心室 升主动脉 心脑及上半身 肺动脉 降主动脉 下半身 上半身静脉血 上腔静脉 脐静脉动脉血 门静脉静脉血 母体 下半身静脉血 肺循环
    32. 37. <ul><li>Gas and nutritional requirements exchange occurs in the placenta </li></ul><ul><li>Pulmonary blood flow is very low </li></ul><ul><li>Foramen ovale and ductus arteriosus are opened </li></ul><ul><li>The blood saturation is higher in up limbs and head </li></ul>Fetal Circulation
    33. 38. <ul><li>Pulmonary ventilation, and respiration, pulmonary vascular resistance decreases rapidly, systemic blood saturation increased </li></ul><ul><li>The ductus arteriosus closed by its contraction of muscular wall, which resulted by bradykinin </li></ul><ul><li>By increasing in pulmonary blood flow, pulmonary venous return increased, combined with a decrease in pressure within the right atrium, resulted in a closing of foramen ovale </li></ul>Postnatal Circulations
    34. 39. Close of the circulation in infant after birth <ul><li>Foramen ovale(PFO) </li></ul><ul><li>—— Functional close: after birth </li></ul><ul><li>—— Anatomically close: 5 ~ 7 months </li></ul><ul><li>Ductus arteriosus(PDA) </li></ul><ul><li>—— Functional close: within 24h after birth (term infant 80%) </li></ul><ul><li>—— Anatomically close: 3 month (80%) </li></ul><ul><ul><li>one year (95%) </li></ul></ul><ul><li>Ductus venosus(PDV) </li></ul><ul><li>—— atresia to forming ligaments </li></ul><ul><li>Placenta : source of oxygen for the fetus </li></ul>
    35. 40. To compare circulation between prior and after birth 返回 A : fetal period B : after birth Gas exchange by matrix systemic circulation Gas exchange by pulmonary circulation Blood oxygen content : Mixing or upper: heart /brain ﹥ lower body Separation of the venous and arterial blood PFO/PDA/PDV Close The same pressure of the aterail and pulmonary High pulmonary resistance The lower of the pulmonary pressure and resistance The burden of the right ventricle higher The burden of the left ventricle higher A B
    36. 41. <ul><li>CHD general introduction 先天性心脏病总论 </li></ul>
    37. 42. Etiology <ul><li>Chromosomal abnormalities(10~12%) : </li></ul><ul><li>extra some or deletion of a chromosome </li></ul><ul><li>-> trisomy syndrome:Down’s (21/13/18), Turner’s </li></ul><ul><li>Single gene abnormalities (1~2%): </li></ul><ul><li>-> Marfan’s syndrome </li></ul><ul><li>Multiple gene </li></ul><ul><li>Maternal factors (1~2%). : </li></ul><ul><li>-> maternal infection </li></ul><ul><li>-> metabolic disease </li></ul><ul><li>-> drug ingestion </li></ul><ul><li>-> Alcoholism drug abuse </li></ul><ul><li>No specific cause(85%) </li></ul><ul><li>-> Surrounding environment </li></ul>
    38. 43. Incidence of Congenital Heart Disease <ul><li>0.8 – 1 % of all newborns, i n China, alone 250000 children with CHD are born each year </li></ul><ul><li>The CHD are the first causes of child mortality from 1-4 years old children until now . 30% of cases may die within first year of life </li></ul><ul><li>> 50-60% diagnosed within first month of life </li></ul><ul><li>Increasing number diagnosed prenatally </li></ul><ul><li>(>50% of complex lesions) </li></ul>
    39. 44. Relative Frequency of CHD <ul><li>Ventricular septal defect 25-30% </li></ul><ul><li>Atrial septal defect (secundum) 6-8% </li></ul><ul><li>Patent ductus arteriosus 6-8% </li></ul><ul><li>Coarctation of aorta 5-7% </li></ul><ul><li>Tetralogy of Fallot 5-7% </li></ul><ul><li>Pulmonary valve stenosis 5-7% </li></ul><ul><li>Aortic valve stenosis 4-7% </li></ul><ul><li>Transposition of great arteries 3-5% </li></ul>
    40. 45. Diagnostic approaches <ul><li>History: </li></ul><ul><li>Gestation </li></ul><ul><li>Family </li></ul><ul><li>Personal :feeding/dyspnea/ </li></ul><ul><li>delayed growth/sweating </li></ul><ul><li>Age </li></ul><ul><li>Physical examination: </li></ul><ul><li>general manifestation: </li></ul><ul><li>cardiac examination: </li></ul>BP Edema Respiratory Cyanosis/clubbing Abdomen: liver/spleen Extremities Pulse Ox /cyanosis HR/RR <ul><li>Cardiac : </li></ul><ul><li>Apex /Apex impulse </li></ul><ul><li>Thrill /Murmur: </li></ul><ul><li>—— location/character </li></ul><ul><li>Rhythm/Sound </li></ul>Inspection Palpation Percussion Auscultation
    41. 46. 患儿,男, 3 岁, TOF ,中央性青紫( + ) 患儿,女, 5 岁 单心室、单心房, 中央性青紫( + )
    42. 47. Clubbing fingers (toes)
    43. 48. Knee-chest Position Child with a cyanotic heart defect squats (assumes a knee-chest position) to relieve cyanotic spells. Some times called “tet” spells. Ball & Bindler Nurse puts infant in knee-chest position. Whaley & Wong
    44. 49. Specific examination: imaging/ hemodynamics/intervention <ul><li>Invasiveness examination: </li></ul><ul><li>X-ray </li></ul><ul><li>Electrocardiogram, ECG </li></ul><ul><li>Echocardiography, ECHO: fetal / esophageal /cardiovascular </li></ul><ul><li>—— Mainstay </li></ul><ul><li>Electron-beam CT/ Magnetic Resonance Imaging ,( MRI) </li></ul><ul><li>Invade examination: </li></ul><ul><li>Cardiac catheterization and angiography </li></ul><ul><li>Endocardium biopsy </li></ul><ul><li>Cardiac electrophysiologic </li></ul><ul><li>others </li></ul>
    45. 50. Physical Exam <ul><li>Ausculatation- The Sounds </li></ul><ul><ul><li>S1 </li></ul></ul><ul><ul><ul><li>Closure of the A-V valves </li></ul></ul></ul><ul><ul><ul><li>Single sound in early isovolumic ventricular contraction </li></ul></ul></ul><ul><ul><ul><li>Best heard in tricuspid and mitral areas </li></ul></ul></ul>
    46. 51. Physical Exam <ul><li>Auscultation </li></ul><ul><ul><li>S2 </li></ul></ul><ul><ul><ul><li>Closure of the semilunar valves </li></ul></ul></ul><ul><ul><ul><li>Physiologic splitting results from increased right heart filling and decreased left heart filling during inspiration </li></ul></ul></ul><ul><ul><ul><li>Pathologic splitting </li></ul></ul></ul>
    47. 52. auscultation <ul><ul><li>Mitral valve </li></ul></ul><ul><ul><li>Pulmonary valve </li></ul></ul><ul><ul><li>Aortic valve </li></ul></ul><ul><ul><li>Tricuspid </li></ul></ul><ul><li>Component of auscultation </li></ul><ul><ul><li>Heart rate </li></ul></ul><ul><ul><li>Heart thythm </li></ul></ul><ul><ul><li>Heart sounds </li></ul></ul><ul><ul><li>Muemurs:position/grade/phase/character/conduction </li></ul></ul><ul><li>Commonly used area of auscultation </li></ul>
    48. 53. Physical Exam <ul><li>Auscultation of Murmurs </li></ul><ul><ul><li>Murmurs are audible sound waves resulting from turbulent blood flow </li></ul></ul><ul><ul><li>Classification of murmurs </li></ul></ul><ul><ul><ul><li>Timing </li></ul></ul></ul><ul><ul><ul><li>Intensity </li></ul></ul></ul><ul><ul><ul><li>Location on chest wall </li></ul></ul></ul><ul><ul><ul><li>Duration </li></ul></ul></ul><ul><ul><ul><li>Configuration </li></ul></ul></ul><ul><ul><ul><li>Quality </li></ul></ul></ul><ul><ul><ul><li>Pitch </li></ul></ul></ul>
    49. 54. Types of Murmurs <ul><li>Systolic </li></ul><ul><ul><li>Begin with S1 and end before S2 </li></ul></ul><ul><ul><li>Classified as holosystolic, ejection, early and late systolic </li></ul></ul><ul><li>Diastolic </li></ul><ul><ul><li>Occur in the period between closure of semilunar valves and subsequent closure of A-V valves </li></ul></ul><ul><ul><li>Classified as early, mid and late diastolic </li></ul></ul><ul><li>Continuous </li></ul><ul><ul><li>Not confined to systole or diastole </li></ul></ul>
    50. 55. Types of Murmurs <ul><li>Continuous murmurs </li></ul><ul><ul><li>Begin in systole and extend up to diastole without interruption </li></ul></ul><ul><ul><li>Result from blood from a higher pressure chamber or vessel to a lower system with a persistent pressure gradient between these areas </li></ul></ul><ul><ul><ul><li>PDA </li></ul></ul></ul><ul><ul><ul><li>Left to right shunts </li></ul></ul></ul><ul><ul><ul><li>Venous hum </li></ul></ul></ul>
    51. 56. Types of Murmurs <ul><li>Systolic murmurs </li></ul><ul><ul><li>pansystolic murmurs </li></ul></ul><ul><ul><ul><li>Starts with S1 and extends up to A2/P2 </li></ul></ul></ul><ul><ul><ul><ul><li>Mitral regurgitation </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Ventricular septal defect </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Tricuspid regurgitation </li></ul></ul></ul></ul><ul><ul><li>Systolic Ejection Murmurs </li></ul></ul><ul><ul><ul><li>Ejection murmurs </li></ul></ul></ul><ul><ul><ul><ul><li>Valvular, supravalvular or subvalvular aortic stenosis </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Pulmonic stenosis </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Innocent Murmurs </li></ul></ul></ul></ul>
    52. 57. What do you hear?
    53. 58. Purposes of Imaging <ul><li>Anatomic-pathologic diagnosis </li></ul><ul><li>Hemodynamic assessment </li></ul><ul><li>(velocity, flow, pressure, stress-strain) </li></ul><ul><li>Volume, function, wall motion, torsion </li></ul><ul><li>Coronary perfusion / Metabolism </li></ul><ul><li>Tissue characterization </li></ul>
    54. 59. Chest X-ray test <ul><li>Heart size, shape </li></ul><ul><li>pulmonary vascularity </li></ul><ul><li>Cardiothoracic ratio </li></ul><ul><li>Hilar pulsation </li></ul><ul><li>Situs perversus </li></ul>
    55. 60. Image of heart at anteroposterior position
    56. 61. The X-ray diagnosis ?
    57. 62. Electrocardiogram, ( ECG ) <ul><li>Diagnostic value: </li></ul><ul><li>Arrhythmia </li></ul><ul><li>The situation of cardiac conduction </li></ul><ul><li>H ypertrophy of atrium and ventricle </li></ul><ul><li>Myocardial ischemia </li></ul><ul><li>Speciality of Infantile ECG </li></ul><ul><li>heart rate and age are inverse proportion in children </li></ul><ul><li>The QRS wave of right ventric take predominant in Infant </li></ul><ul><li>T wave is comparatively large in variation </li></ul>
    58. 63. ECG
    59. 64. Echocardiography , (ECHO) <ul><li>Easy, non-invasive, accurate, real-time , </li></ul><ul><li>Anatomic and physiologic information </li></ul><ul><li>Changed practice of pediatric cardiology </li></ul>
    60. 65. Echocardiography - Modalities <ul><li>M-mode / 2-D / 3-D </li></ul><ul><li>Doppler / color Doppler </li></ul><ul><li>Trans-thoracic, trans-esophageal, </li></ul><ul><li>trans-abdominal, trans-vaginal, </li></ul><ul><li>intra-cardiac, intra-vascular </li></ul>
    61. 66. M - ECHO
    62. 67. Echocardiography
    63. 68. Echocardiography
    64. 69. B/Color /Doppler ECHO
    65. 70. New Development in Echo <ul><li>Imaging: edge detection/auto-measurement </li></ul><ul><li>Doppler: 3-D flow / stress-strain </li></ul><ul><li>Contrast echo: coronary perfusion </li></ul><ul><li>Fetal Echo: >16 weeks </li></ul>
    66. 71. 3-D Echocardiography
    67. 76. Purposes of Catheterization <ul><li>Anatomic diagnosis </li></ul><ul><li>Hemodynamic assessment </li></ul><ul><li>Interventional procedure </li></ul>
    68. 77. Equipment <ul><li>Biplane monitor / Cine with digital subtraction </li></ul><ul><li>Patient monitoring : EKG, BP, pulse oximeter </li></ul><ul><li>Physiologic signal amplifier and recording device </li></ul><ul><li>Blood gas, O 2 consumption, Dye/ Thermodilution </li></ul><ul><li>Emergency treatment tools : </li></ul><ul><li>Room for Others : anesthesia, echo, exercise </li></ul>
    69. 78. Catheterization Room Fluoroscopic Monitor
    70. 81. Cardioangiography
    71. 83. <ul><li>1. left to right shunt ( potential cyanotic type ) </li></ul><ul><li>-左向右分流型(潜伏紫绀型) VSD 、 ASD 、 PDA </li></ul><ul><li>2. right to left shunt ( cyanotic type ) </li></ul><ul><li>-右向左分流型(紫绀型) </li></ul><ul><li>TOF D-TGA </li></ul><ul><li>3. without shunt ( Acyanotic type ) </li></ul><ul><li>- 无分流型(无紫绀型) PS 、 AS </li></ul>Classification of CHD
    72. 84. Electrophysiologic Study
    73. 85. Other Imaging Tools <ul><li>Magnetic Resonance Imaging (MRI) </li></ul><ul><li>CT / Electron-beam CT (EBCT) </li></ul><ul><li>Radionuclide / SPECT </li></ul><ul><li>Positron Emission Tomography </li></ul>
    74. 86. Magnetic Resonance Imaging <ul><li>Sectional still image/ cine image/ 3-D </li></ul><ul><li>Flow information / volume flow </li></ul><ul><li>Less window dependant / post-op study, older age / functional evaluation </li></ul>
    75. 87. Magnetic Resonance Imaging Spin echo Gradient echo Velocity encoded
    76. 88. MRI and coarctation
    77. 89. MRI and TOF
    78. 90. Computerized Tomography
    79. 91. CT and Aortic arch anomalies
    80. 92. Radionuclide Study
    81. 93. Radionuclide Study