1. Residua: lesion which existed before surgery and left over after surgery or getting worse with age (i.e., left axis deviation, mitral regurgitation)
2. Sequelae: lesion which inevitably happens as a result of surgery (pulmonary regurgitation after tetralogy of Fallot repair, surgical scar)
3. Complications: lesions that happen unexpectedly due to surgery (nerve palsy)
4. Late complications: lesion, unexpected or expected, non-op or post-op, occurred with age (heart failure, sudden death, arrhythmias, thrombosis, cyanotic organ damage)
Residua are observed before surgery and continue postoperatively, such as right ventricular outflow tract stenosis (RVOTS) in repaired tetralogy of Fallot (TOF). Sequelae occur after surgery, such as pulmonary regurgitation (PR) in repaired TOF. An example of an acute complication is unexpected nerve palsy secondary to a surgical procedure. In moderate and severe CHD, there are residua and sequelae specific to the type of CHD. With few exceptions, reparative surgery is not curative and requires long-term surveillance. Residua and sequelae may progress in severity with age and induce late complications, such as arrhythmias, heart failure especially right ventricular (RV) failure, thromboembolism, sudden death, and sometimes reoperation; cardiac intervention and catheter ablation could be necessary long after repair. There are many other obstacles that further complicate ACHD (Table 1.2), including pregnancy and delivery, non-cardiac surgery, hepatitis, psychosocial problems such as depression, cognitive abnormalities, health insurance coverage problems, and extra-cardiac complications inherent in the comprehensive care of these patients, making close follow-up and proper management mandatory. The most common cause of death is postoperative arrhythmia [2]. Therefore, unoperated and postoperative patients with moderate to complex lesions require lifelong surveillance. Postoperative residua, sequelae, and long-term surgical complications vary in severity and require regular medical attention by experienced cardiologists (Tables 1.1 and 1.2). Because of this, a number of specialized centers have been established in the last three to four decades in Europe and North America, and then in Asia and South America, to respond to this need. This evolving field of adult congenital heart disease (ACHD) will now include board certified specialists as one of the internal medicine specialists in North America, and, possibly, the trend will spread into other international regions.
Table 1.2
Clinical problems in adults with congenital heart disease
Cardiac-related issues |
1. Mortality, morbidity, QOL, occupation |
2. Residua, sequelae, complication after initial repair, cardiac surgery, redo surgery |
3. Catheter intervention and ablation |
4. Arrhythmia, heart failure, sudden cardiac death |
5. Pulmonary hypertension |
6. Infective endocarditis |
7. A multi-system systemic disorders in cyanotic CHD |
8. Aortopathy, aortic dilatation, high elasticity of aorta, aortic dissection |
9. Acquired cardiovascular disease (obesity, diabetes mellitus, ischemic disorders, etc.) |
Non-cardiac issues |
1. Reproductive issues, inheritance |
2. Non-cardiac surgery |
3. Influence of aging and metabolic syndrome, smoking, alcohol drinking habit |
4. Exercise, recreational sports |
5. Travel by aircraft, driving license |
6. Transition issues |
7. Psychosocial considerations |
8. Social security (health and life insurance, physically handicapped, pension) |
9. Liver disease (hepatitis, liver cirrhosis, hepatic cancer) |
10. Renal failure |
1.2 History of CHD
In the fifteenth century, Leonardo da Vinci recognized a patent foramen ovale, TOF, bicuspid aortic valve, while these anomalies were actually described by Danish anatomist Steno in 1673 [3], but was not diagnosed in vivo until 1888, by the reports of Fallot [4]. After his report, this complex abnormality was called tetralogy of Fallot. In 1879, Roger described the morphology and clinical features of small ventricular septal defect, then this anomaly consequently referred to as Roger’s disease [5].
Diagnosis and anatomy of CHD was not recognized even in concept until Abbott appeared in the late nineteenth century. In the 1990s, when she came to the McGill Museum, she found the specimen of Holmes heart at the first time. Also, she wrote on the bicuspid aortic valve as follows: “the presence of a bicuspid aortic valve appears to indicate, at least in a portion of the cases in which it occurs, a tendency for spontaneous rupture.” She already knew that bicuspid aortic valve has a tendency to dilate and rapture. Osler advised her to culminate her remarkable anatomical textbook, Atlas of Congenital Heart Disease (1936), which was based on 1000 pathology specimens personally studied [6].
The twentieth century witnessed a remarkable development of diagnostic methods and a tremendous success of cardiac surgery. Until the early twentieth century, it was difficult to establish the diagnosis of CHD during a patient’s lifetime. As a result, CHD drew mostly the attention of pathologists.
1.3 Diagnosis of CHD
Several imaging modalities are applied for CHD to diagnose when it is suggested by the symptoms and physical examination.
In the past decades, the number of diagnostic catheterization procedures has steadily replaced by interventional procedures, and imaging methods have shifted toward less invasive or noninvasive techniques. Even so, intracardiac pressure and pulmonary vascular resistance can be measured only by catheterization, and even in these days, cardiac catheterization is necessary in some type of CHD such as candidates for Fontan (single ventricular physiology) or pulmonary hypertension (PH). Echocardiography, MRI, and CT imaging have gradually gained a well-established role in the morphological and functional assessment of the heart and great vessels [7].
1.3.1 Cardiac Catheterization
Diagnosis and treatment of CHD has often depended on cardiac catheterization. In 1844, Bernard, born in Rhone, born from the parents of wine merchant, is famous as an author of the textbook, “Introduction a L’ etude De la Medicine Experimentale” (1865), catheterized the ventricles of a horse [3]. A few years later, intracardiac pressure was measured by Cheveau and Marey [3]. Forssmann, Berlin, performed the first cardiac catheterization using ureter catheter on a living man—he himself—under the influence of former experiment of Bernard [8] in 1929. Cardiac catheter was soon employed for the tool for the diagnosis of CHD. Then, further major step forward is current use of the catheter for therapeutic interventions.
1.3.2 Echocardiography
Echocardiography started in the 1970s–1980s, initially M-mode then B-mode image (2DE). Then, balloon atrioseptostomy in transposition of the great arteries (d-TGA) was performed in NICU under two-dimensional echocardiographic control [9] without using ionizing radiation.
In 1982, Namekawa performed real-time two-dimensional Doppler echocardiography (so-called color Doppler echo), and then it was widely used for evaluation of acquired heart (especially valvular disease) and CHDs [10, 11].
In the 1990s, 80% of children were referred for surgery on the basis of noninvasive diagnosis. As ACHD are much more difficult to examine by echo than children, however, transesophageal echo (TEE) affords accurate diagnosis of CHD in adults. Three-dimensional reconstruction, intravascular echo, and tissue velocity imaging may yield new insights into the anatomy and function of ACHD.
1.3.3 MRI
MRI, which was widely available in the 1980s, is extremely useful for delineation of the anatomy of the heart and great vessels, as well as for quantifiable assessment of blood flow characteristics. MRI provides excellent spatial resolution without limitations in the orientation of views. The development of specific techniques (fast gradient echo, velocity mapping, echo planner imaging, myocardial tagging, and spectroscopy) allows us for quantification of physiological and pathological hemodynamic conditions. The late gadolinium enhancement technique provides assessment of the fibrosis and scarring of the myocardium of ventricles. The clinical indications for MRI in ACHD are well established for the evaluation of anatomy and/or function especially in complex CHD. It is considered a gold standard for the anatomical and functional evaluation of the RV [7]. However, MRI cannot directly measure the pressure and resistance of the vessels that is important to assess hemodynamics of Fontan circulation or PH. Also, in patients with arrhythmias such as atrial fibrillation, or with pacemaker, MRI could not apply until recently.
MRI angiography also used for the detection of coronary artery lesions and ventricular performance in patients with Kawasaki disease and coronary artery aneurysm [12].
1.3.4 CT
Several newer CT technologies (e.g., spiral and multislice CT, dual-source CT) are in use as minimally invasive procedure: the high resolution of the image provides excellent spatial separation. A CT angiography is an inevitable examination before operation especially reoperation. Coronary arteries are well visualized especially in patients with Kawasaki disease (KD) with coronary artery aneurysm or stenosis [13]. However, common finding of calcification of the coronary artery aneurysm with stenotic lesion in KD is an obstacle for evaluation. Ionizing radiation of CT was also demerit for use especially in children and young adults with CHD.
Unfortunately, neither MRI nor CT can accurately define intraluminal pressures and pulmonary vascular resistance. Therefore, catheterization is currently the only way to measure systemic or pulmonary pressure and resistance accurately.
1.4 Management of CHD
1.4.1 Catheter Intervention (Table 1.3)
Table 1.3
Milestones in the history of catheter intervention for CHD
Procedure | First performed (years) | Reporter |
|---|---|---|
Balloon atrioseptostomy | 1966 | Rashkind WJ, Miller WW [14] |
Balloon valvuloplasty of pulmonary stenosis | 1982 | Kan JS, White RI, Mitchell SE et al. [15] |
Balloon valvuloplasty of aortic stenosis | 1984 | Lababidi Z, Wu RJ, Walls TJ [16] |
Balloon dilatation of coarctation of the aorta | 1983 | Lock JE, Bass JL, Amplatz K et al. [17] |
Transcatheter closure of patent ductus arteriosus | 1966 | Porstmann W, Wierny L, Warnke H [18] |
Transcatheter closure of atrial septal defect | 1974 | King TD, Mills NL [19] |
Transcatheter closure of atrial septal defect | 1997 | Masura J, Gavora P, Formanek A, Hijaji ZM [20] |
Transcatheter closure of ventricular septal defect | 1987 | Lock JE, Block PC, McKay RG, Baim DS, Keane JE [21] |
Nowadays, catheter technique is no longer used only for diagnostic purpose, and catheter intervention may replace certain cardiac surgical procedures in CHD. Balloon atrioseptostomy in the critically ill newborns with d-transposition of the great arteries (d-TGA) was reported in 1966 [14]. Balloon percutaneous valvuloplasty of pulmonary valve stenosis was performed in 1982 [15] and that of aortic valve stenosis in 1984 [16].
Balloon angioplasty, possibly combined with stenting, can be used to manage aortic coarctation, even in native aortic coarctation [17]. Especially, in patients with re-coarctation, catheter dilatation with stenting is the procedure of choice recently.
Closing a patent ductus arteriosus performed by Porstmann, Geyersdorf, in 1967 [18] was the first catheter-based closing technique in CHD. After the advance of more sophisticated devices, interventional closure of patent ductus arteriosus (PDA) has been getting broader acceptance. Many ACHD patients are benefitted from the development of interventional closure of atrial septal defect (ASD) or a patent foramen ovale (PFO). Catheter-based closure of ASD was initially reported in 1974 [19], and the method has found a wide acceptance since the 2000s, when Amplatzer septal occluder became available [20]. The transcatheter closure of ventricular septal defect (VSD) is used for muscular defects and then for perimembranous VSD [21]. However, device closure of perimembranous VSD develops complete atrioventricular block that results in pacemaker implantation in some cases.
1.4.2 Cardiac Surgery (Table 1.4)
The successful history of PDA ligation dates from 1938 when Gross, Boston Children’s Hospital, ligated the PDA of a 7-year-old girl in the hope of preventing subsequent infective endocarditis and reducing volume overload of the heart [22] and was performed independently by Frey, Dusseldorf, in the same year [23].
Table 1.4
Milestones in the history of cardiovascular surgery for CHD
Congenital heart disease | First surgery (year) | Report (surgeon) |
|---|---|---|
Patent ductus arteriosus | 1938 | Gross R, Boston [22] |
Frey EK, Dusseldorf [23] | ||
Coarctation of the aorta | 1944 | Crafoord C, Nylin G, Stockholm [24] |
Blalock-Taussig shunt | 1944 | |
Tetralogy of Fallot | 1954 | Lillihei WC, Minneapolis [27] |
Transposition of the great arteries (atrial switch) | 1958 | Senning A, Stockholm [28] |
Transposition of the great arteries (atrial switch) | 1963 | Mustard WT, Toronto [29] |
Transposition of the great arteries (arterial switch) | 1975 | Jatene AD, Brazil [30] |
Transposition of the great arteries (arterial switch) | 1976 | Jacoub MH, London [31] |
Tricuspid atresia | 1968 | Fontan F, Bordeaux [32] |
Hypoplastic left heart syndrome (HLHS) | 1980 | Norwood W, Boston [33] |
Cavo-pulmonary connection (CPC) | 1988 | Leval M de, London [34] |
Crafoord, Stockholm, performed the first surgical repair of coarctation of the aorta (COA) in 1944 [24].
Blalock first created palliative subclavian and pulmonary anastomosis in TOF as suggested by the pediatric cardiologist Taussig, in 1944 [25, 26]. Thomas V, surgical technician and assistant of Blalock, developed this technique using animals with Blalock, before Blalock performed the so-called Blalock-Taussig (BT) shunting [3]. Late after that episode, the Vivien Thomas Young Investigator Award, given by the Council on Cardiovascular Surgery and Anesthesiology, was beginning in 1996.
Gross in 1952 closed ASD in the open heart using direct suture. Closure of a VSD and correction of TOF in the open heart employing controlled cross-circulation were pioneered by Lillehei in 1954 [27]. Techniques of managing d-TGA by redirecting venous return at atrial level were proposed by Senning from Stockholm [28] and by Mustard from Toronto [29]. Anatomical correction of TGA (arterial switch) was devised by Jatene in Sao Paulo in 1975 [30].
In 1968, the concept of total right heart bypass becomes reality, when Fontan performed his first atriopulmonary connection in order to place the pulmonary and systemic circulation in a patient with tricuspid atresia (TA). Since the initial report published in 1971 by Fontan and Baudet [32], the original technique of Fontan has undergone several modifications. Total cavo-pulmonary connection (TCPC) was introduced in 1988 by M de Leval. Fontan operation has been extensively applied for palliation of wide variety of complex cyanotic CHD with one available ventricle [34].
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