Handbook of Clinical Neurology, Vol. 119 (3rd series) Neurologic Aspects of Systemic Disease Part I Jose Biller and Jose M. Ferro, Editors © 2014 Elsevier B.V. All rights reserved

Chapter 5

Neurologic complications of congenital heart disease and its treatment EMILY DE LOS REYES* AND E. STEVE ROACH Division of Child Neurology, Ohio State University, Columbus, OH, USA

HISTORY OF CONGENITAL HEART DISEASE The occurrence of congenital heart disease has been recognized for centuries, but our ability to diagnose and treat congenital heart disease has improved tremendously during the last several decades. Recognition of specific congenital cardiac syndromes (Table 5.1) was facilitated by advances in echocardiography and cardiac catheterization, and a variety of corrective and palliative surgical procedures were developed to aid children with congenital heart anomalies (Mahle et al., 2009). Prenatal diagnosis is now possible in some instances (Mahle et al., 2001). Numerous palliative and corrective surgical procedures (Table 5.2) have been devised to treat congenital heart defects. Robert Grosse successfully ligated a patent ductus arteriosus in 1938 (Kaemmerer et al., 2004). In 1944 Blalock and Taussig developed the first subclavian to pulmonary artery shunt operation for the palliation of infants with tetralogy of Fallot. In 1954, William W. L. Glenn performed a superior vena cava to right pulmonary artery anastomosis to partially bypass the right heart. A modified version of this procedure remains the treatment of choice in total right heart bypass (Waldhausen, 1997). In 1981, Norwood and colleagues described their staged procedure to improve systemic circulation in babies with hypoplastic left heart syndrome (Norwood et al., 1981). Artificial and porcine valve replacement allows correction of cardiac valvular defects. Adaptations of cardiopulmonary bypass techniques and hypothermic circulatory arrest for children allow longer and more complicated procedures to be performed.

These efforts to treat congenital heart disease may have increased the number of children known to have neurologic dysfunction, because, prior to these procedures, most children with severe cardiac anomalies quickly perished. However, continued improvements in medical and surgical therapy and the ability to perform corrective surgery at younger ages may have reduced the frequency of neurologic complications (Mahle et al., 2001).

INCIDENCE OF CONGENITAL HEART DISEASE The estimated incidence of congenital heart anomalies varies in different reports and also depends on the definition used and the method of ascertainment. In developed countries, moderate to severe lesions occur in about 6 of every 1000 individuals. When small septal defects and other less severe lesions are included, the incidence balloons to 75 of every 1000 individuals (Hoffman and Kaplan, 2002). The prevalence of congenital heart lesions varies with age, because many small septal defects close spontaneously and some individuals with more severe lesions do not survive. Because of the diagnostic and therapeutic advances, most individuals with congenital heart disease live well into adulthood with varying degrees of residual dysfunction. Paradoxically, the improved management may facilitate the occurrence of neurologic complications in some instances by allowing individuals to survive who would have quickly perished before such therapy was available. This chapter summarizes the clinical manifestations and neurologic complications resulting from congenital heart disease and its management.

*Correspondence to: Emily de los Reyes, M.D., Professor of Child Neurology, Nationwide Children’s Hospital, Ohio State University, 700 Children’s Drive, Columbus, OH 43205, USA. Tel: þ1-614-722-4625, Fax: þ1-614-722-4633, E-mail: emily.delosreyes@ nationwidechildrens.org

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Table 5.1 Clinical features of selected congenital cardiac anomalies

Atrial septal defect

Patent foramen ovale Ventricular septal defect

Ebstein anomaly

Coarctation of the aorta

Transposition of the great arteries

Tetralogy of Fallot

Cardiac anomalies

Neurologic complications

Ostium secundum defect Ostium primum defect Sinus venosus Persistence of fetal communication between right and left atria Interventricular septum fails to close

Thromboembolism Paradoxical embolism Paradoxical embolus Migraine exacerbation? Thromboembolism Bacterial endocarditis Ischemic stroke Thromboembolism

Apical displacement of tricuspid valve Atrialization of right ventricle Supraventricular arrhythmias Variable atrial septal defect Fibrotic stenosis of aorta Left ventricular dysfunction Associated bicuspid aortic valve Abnormal ventriculoarterial connections

Altered consciousness (hypoxia) Syncope from arrhythmia Intracranial arterial aneurysm Arterial hypertension Thromboembolism Seizures Cognitive delay Thromboembolism Cognitive impairment Congenital brain anomalies

Hypoplastic left heart

Overriding aorta Right ventricular obstruction Ventricular septal defect Right ventricular hypertrophy Underdevelopment of the left heart

Atrioventricular septal defect

Incomplete septation of atrioventricular canal

Thromboembolism Cerebral anomalies Cognitive impairment Mental retardation if related to Down syndrome

Table 5.2 Selected surgical procedures for congenital heart disease Procedure

Purpose

Heart lesion

Percutaneous device closure

Septal defect closure

Norwood procedure

Atrial septectomy Right ventricle to pulmonary artery conduit Graft or aortic reconstruction Subclavian artery to pulmonary artery to increase pulmonary flow Cavopulmonary shunt Redirects SVC to right pulmonary artery Inferior vena cava flow to pulmonary arteries

Patent foramen ovale Atrial septal defect First stage procedure for single ventricle

Blalock–Taussig procedure Bidirectional Glenn procedure Fontan procedure Arterial switch

Transection of aorta and pulmonary artery followed by their translocation to the opposite root (aorta to left ventricle, and pulmonary artery to right ventricle)

RA, right atrium; RV, right ventricle; SVC, superior vena cava.

Tetralogy of Fallot Second stage procedure for hypoplastic left heart Third stage procedure for single ventricle physiology Transposition of the great arteries

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SIGNS AND SYMPTOMS OF CONGENITAL HEART DISEASE Any portion of the circulatory system is subject to anomalous development, and the array of anomalies determine the clinical signs and symptoms that develop in a given individual. Neurologic dysfunction is far more likely to occur in individuals with complex congenital heart anomalies than in those with isolated septal defects or other less severe anomalies. Table 5.1 summarizes the more common congenital cardiac anomalies. Cardiac anomalies that result in substantial mixing of the venous and arterial circulations, such as transposition of the great arteries or tetralogy of Fallot, are typically discovered soon after birth because of cyanosis and the early occurrence of cardiac dysfunction. Neonates with more severe forms of congenital heart disease tend to have nonspecific signs such as hypotonia, lethargy, irritability, poor feeding, and temperature instability (Limperopoulos et al., 2000). Acyanotic lesions such as atrial or ventricular septal defects and patent ductus arteriosus may cause few initial symptoms, and smaller lesions sometimes go undiagnosed until later in childhood or adult life. Older children with cardiac dysfunction may exhibit exercise intolerance, poor school performance, or respiratory symptoms. Small septal defects often close or become hemodynamically insignificant over time.

CEREBROVASCULAR COMPLICATIONS OF CONGENITAL HEART DISEASE Congenital heart lesions collectively constitute the most common cause of cerebral embolism (Fig. 5.1) in children and typically account for about a fifth of the ischemic brain infarctions in children (Dowling and Ikemba, 2011). The likelihood of stroke is greatest in individuals with severe structural defects such as tetralogy of Fallot, transposition of the great arteries, or hypoplastic left heart syndrome (Terplan, 1973). Isolated septal defects or valvular anomalies pose a lower stroke risk, although stroke has been documented in individuals with most types of congenital cardiac anomaly. Most ischemic infarctions in children with congenital heart disease result from thromboembolism. Paradoxical embolism and cardiac arrhythmias may be responsible for embolism in some individuals. Polycythemia secondary to cyanotic congenital heart disease may increase the risk of thrombosis, particularly venous thrombosis (Cottrill and Kaplan, 1973; Phornphutkul et al., 1973). Conversely, iron deficiency anemia in children with congenital heart disease may increase the risk for an arterial stroke (Stolz et al., 2007; Munot et al., 2011). In one report, eight of 15 (53%) children (12–38 months of age) with otherwise unexplained stroke

Fig. 5.1. Magnetic resonance scan shows multiple cerebral infarctions in an infant with cardiac emboli. (Reproduced from Roach et al., 2011.)

had iron deficiency anemia, while only 14 of 143 (9%) of their age-matched control group were anemic (Maguire et al., 2007). It is likely that the occurrence of iron deficiency in an individual with congenital heart disease increases the risk of both venous and arterial occlusion. Venous emboli are normally prevented from entering the arterial circulation by the pulmonary vascular bed. A venous to arterial (“paradoxical”) embolism can result from any cardiac defect that allows a venous clot to bypass the pulmonary vascular bed and enter the systemic circulation. In practice, however, a diagnosis of paradoxical embolism is usually reserved for individuals with septal defects or other lesions without a high intrinsic stroke risk. Small septal defects usually produce arterial to venous shunting of blood, but the direction of flow may reverse in individuals with pulmonary hypertension or during Valsalva maneuver. In the fetus, oxygenated blood from the umbilical veins is shunted directly from the right atrium to the left atrium via the foramen ovale, bypassing the pulmonary circulation. A patent foramen ovale (PFO) persists in about a quarter of the general population and can be demonstrated by echocardiography with intravenous injection of agitated saline during a Valsalva maneuver. The extent to which a PFO constitutes an avenue for paradoxical embolism is a topic of debate. Endovascular closure offered no benefit over medical therapy (with aspirin or warfarin) in

52 E. DE LOS REYES AND E. STEVE ROACH the reduction of the risk of recurrent stroke or transient among them associated congenital brain anomalies, ischemic attack (Furlan et al., 2012). coexisting genetic disorders that result in brain dysfuncAtrial septal aneurysms are documented in 6–15% of tion, cerebrovascular complications, and complications patients with suspected embolic stroke who undergo of therapy. Prematurity and low birthweight contribute transesophageal echocardiography (TEE) and in 1% of to long-term cognitive impairment in some children with autopsies (Silver and Dorsey, 1978; Pearson et al., 1991; congenital heart disease. Agmon et al., 1999). These lesions consist of redundant The likelihood of an underlying genetic disorder is hypermobile septal tissue that results in turbulent flow substantial even in the absence of a well-recognized that may predispose to arterial embolization. Atrial septal genetic syndrome. In one study, for example, 18.3% of aneurysm can occur in isolation, but it is more commonly the patients with tetralogy of Fallot had a genetic abnorassociated with a PFO or atrial septal defect (Mugge et al., mality (Zeltser et al., 2008). Many genetic disorders 1995). The occurrence of an atrial septal aneurysm (Table 5.3) that cause congenital heart disease also lead together with a PFO increases the risk of recurrent strokes to cognitive impairment independent of cardiac disease. in individuals younger than 55 years of age (Mas et al., Down syndrome, velocardiofacial syndrome, and 2001). The occurrence of atrial fibrillation in an individual CHARGE (Coloboma, Heart disease, choanal Atresia, with an atrial septal aneurysm increases the likelihood of Retarded growth and central nervous system anomalies, thromboembolism (Krumsdorf et al., 2004). An American Genital anomalies or hypogonadism and Ear anomalies) Academy of Neurology evidence-based practice parasyndrome are commonly associated with neurodevelopmeter concluded that an isolated PFO is not associated mental dysfunction even in the absence of congenital with a significant risk of recurrent stroke in individuals heart disease. Deletions on chromosome 22q12 are docuwith an unexplained stroke but that a PFO plus an atrial mented in over 50% of children with conotrucal defects septal aneurysm conveyed an increased stroke risk and in 16% of those with tetralogy of Fallot (Goldmuntz (Messe et al., 2004). et al., 1998). Cardiac lesions that are associated with severe hypINFECTIVE EMBOLISM FROM oxia and hypoperfusion carry a greater risk of long-term CONGENITAL HEART DISEASE cognitive dysfunction. Children with transposition of the great arteries or hypoplastic left heart syndrome, for Infective endocarditis with secondary embolism occurs example, are profoundly hypoxemic until mixing of oxywith increased frequency in children with various forms genated and deoxygenated blood can be increased. The of congenital heart disease (Niwa et al., 2005). In a large duration and severity of hypoxemia no doubt contributes series of Japanese children and adults with infective to the eventual cognitive deficits in these individuals, and endocarditis and congenital heart disease, the most comearlier corrective of palliative surgery should theoretimon bacterial organisms were streptococci species (50%) cally improve long-term function. and staphylococci species (37%) (Niwa et al., 2005). Some Improved survival of children with congenital heart reports suggest brain complications are more likely to defects has resulted in greater emphasis on long-term occur with endocarditis due to Staphylococcus aureus cognitive function. Severe neurologic disability occurs than from enterococcus or other pathogens (Saiman in about 5% of children undergoing surgery for congenet al., 1993; McDonald et al., 2005). ital heart disease, but at least 28% of children with varIn one cohort of 115 children with infective endocarious congenital cardiac lesions have some type of ditis, seven individuals had stroke and four of these had residual neurologic dysfunction (Majnemer et al., congenital heart disease (Venkatesan and Wainwright, 2006). Children selected for more severe cardiac lesions 2008). In contrast, approximately half of the children tend to have even more difficulty. The most common with infective endocarditis have a congenital heart lesion residual neurologic impairments are hypotonia, fine (Saiman et al., 1993). Infarction can occur in any portion and gross motor incoordination, and developmental of the brain but is most likely to occur in the distribution delay (Majnemer et al., 2006). of the internal carotid artery. Infective endocarditis can McGrath and colleagues (2004) evaluated children also result in infective cerebral aneurysms as well as who underwent surgery for transposition of the great bacterial meningitis and cerebral abscess formation arteries at 1, 4, and 8 years. At 1 year, Bayley scores (Dziuban et al., 2008). were lower in children who underwent circulatory arrest and in those who had electrographic seizures. COGNITIVE DISTURBANCES WITH After 4 years, the circulatory arrest group continued CONGENITAL CARDIAC DISEASE to score lower on tests of fine and gross motor function Cognitive impairment in individuals with congenital carand language function. Deficits of visual-spatial and diac disease probably has multiple contributing factors, visual-motor integration were also common. By 8 years

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Table 5.3 Selected genetic causes of congenital heart disease Syndrome

Genetic abnormality

Cardiac anomaly

Velocardiofacial syndrome/ DiGeorge syndrome

Chromosome 22 microdeletion

Down syndrome

Trisomy 21

Alagille syndrome

JAG1 or NOTCH2 mutation

Holt–Oram syndrome Williams syndrome

TBX5 gene 7q11 deletion

Noonan syndrome

PTPN11, SOS1, and perhaps other genes

Turner syndrome

Monosomy X

VACTERL* association

Unknown

CHARGE{ syndrome

Unknown

Conotruncal defects Tetralogy of Fallot Interrupted aortic arch Truncus arteriosus Endocardial cushion defect Ventricular septal defect Atrial septal defect Tetralogy of Fallot Pulmonary valve stenosis Pulmonary hypoplasia Atrial septal defect Supravalvular aortic stenosis Large vessel vasculopathy Pulmonary valvular stenosis Atrial septal defect Pulmonary artery stenosis Hypertrophic cardiomyopathy Bicuspid aortic valve Coarctation of the aorta Ventricular septal defect Atrial septal defect Tetralogy of Fallot Transposition of great arteries Truncus arteriosus Tetralogy of Fallot Patent ductus arteriosus Ventricular septal defect Atrial septal defect

*VACTERL, Vertebral anomalies, imperforate Anus, Cardiac anomalies, TracheoEsophageal fistula, Renal anomalies, and Limb anomalies. { CHARGE, Coloboma of the eye, Heart disease, choanal Atresia, Retardation of growth, Genital/urinary abnormalities, Ear anomalies and deafness.

after surgery, more than half of the children had normal intelligence quotients (McGrath et al., 2004). Another study concluded that the neurodevelopmental outcome was better in children with transposition of the great arteries than those with tetralogy of Fallot, probably because more of the individuals with tetralogy of Fallot had underlying genetic abnormalities (Bellinger et al., 2001). Continued improvements in medical and surgical management have improved the cognitive outcome in children with hypoplastic left heart syndrome and other severe cardiac anomalies (Atallah et al., 2008). The long-term outcomes in hypoplastic left heart syndrome indicate that children with this lesion are at high risk for mental retardations and attention deficit hyperactivity disorder. The association of seizures presents as a significant risk factor for the development of learning problems. Infants who underwent cardiac transplantation did not fare better (Mahle et al., 2006).

Children with treated congenital heart disease have a quality of life that approaches that of normal individuals. However, children with corrected congenital cyanotic disease tend to have a lower exercise tolerance than others and tend to be more withdrawn and engage in fewer activities (Casey et al., 1994). About a fifth of children with normal intelligence following cardiac surgery have behavioral and psychosocial dysfunction or abnormal attention (Bellinger et al., 2009). Socioeconomic status and parental intelligence also influences the neurocognitive outcome of children with congenital heart disease (Forbess et al., 2002).

BRAIN ANOMALIES WITH CONGENITAL HEART DISEASE Individuals with congenital heart disease frequently have structural brain anomalies as well. These brain lesions probably occur because of the same underlying genetic

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and environmental factors that caused the heart lesion, although in most individuals these factors are not well known. In some individuals, associated brain anomalies impaired neurodevelopmental function far more than the associated cardiac anomaly. The most common associated brain anomaly is focal cortical dysplasia and other migrational abnormalities. Migrational abnormalities, holoprosencephaly, agenesis of the corpus callosum, and dysmorphic features were found at autopsy in 41 patients (Glauser et al., 1990). In general, brain anomalies are more likely to occur in individuals with more severe cardiac lesions. Routine autopsy studies of children with congenital heart disease also identified anomalies of the brain. Gyral malformations affecting the frontal and parietal lobes were the most common lesions. Other abnormalities also include alterations of the shape of the lobes and anomalies of the sylvian or rolandic fissures (Jones, 1991). The advent of magnetic resonance imaging has also allowed clinicians to investigate risk factors that may impact the child’s future neurodevelopmental sequelae. Neuroimaging abnormalities were found in a series of patients who underwent neuroimaging prior to their cardiac procedures. White matter injury was observed at higher frequency in newborns with congenital heart disease. It has been hypothesized that these abnormalities are secondary to impaired brain development in utero which may be related to impaired cerebral oxygenation delivery (Miller et al., 2007).

A

CEREBRAL ANEURYSM AND AORTIC COARCTATION The association of intracranial aneurysm (Fig. 5.2) and congenital coarctation of the aorta is well recognized. The signs and symptoms of a cerebral aneurysm in an individual with aortic coarctation are identical to those in other aneurysm patients aside from the arterial hypertension that typically accompanies coarctation of the aorta. Despite the congenital nature of aortic coarctation, individuals with an associated intracranial aneurysm seldom become symptomatic until after adolescence or adulthood. On occasion, coarctation of the aorta is diagnosed only after an aneurysm ruptures (LeBlanc et al., 1968; Mercado et al., 2002). Estimates of the incidence of intracranial aneurysm among individuals with aortic coarctation vary with the method of diagnosis but range from 2.5% to 10% (Tyler and Clark, 1958; Connolly et al., 2003). In one cohort of 100 people with coarctation of the aorta who underwent magnetic residence angiography, 10 individuals with an intracranial aneurysm were identified, a fivefold increase above the expected rate in the general population (Connolly et al., 2003).

COMPLICATIONS OF MANAGEMENT Stroke occurs with increased frequency during surgery for congenital heart disease and during cardiac catheterization (Treacy et al., 1991; Oski et al., 1996; Liu et al.,

B

Fig. 5.2. Lateral (A) and anterior-posterior (B) views of a catheter angiogram shows an aneurysm (arrow) of the proximal left middle cerebral artery in an adolescent with coarctation of the aorta. (Reproduced from Roach et al., 2011.)

NEUROLOGIC COMPLICATIONS OF CONGENITAL HEART DISEASE AND ITS TREATMENT 55 2001). However, it can be difficult to determine in these only eight children with evidence of right-sided brain individuals whether the infarction resulted from the prolesions among 59 surviving patients who underwent cedure or from the cardiac defect itself. Neuroimaging ECMO as infants (Schumacher et al., 1988). In another abnormalities are common among individuals who cohort, none of 22 consecutive surviving ECMO patients undergo surgery for congenital cardiac lesions. In one had evidence of cerebral infarction by cranial ultrasound study, 62 near-term neonates with congenital heart or magnetic resonance imaging (Griffin et al., 1992). Some disease underwent presurgical magnetic resonance patients develop intracerebral hemorrhage (Taylor et al., imaging and 53 babies underwent postoperative scans 1989a). Despite the ligation of the right internal carotid (McQuillen et al., 2007). It was found that 56% of these artery required by ECMO, there is little difference in patients had some type of brain injury, but 39% had evithe frequency of infarctions between the two hemispheres dence of brain injury even before surgery. In the preop(Mendoza et al., 1991; Taylor et al., 1989b). This suggests erative scans, 11 (18%) babies had evidence of white that hypoxia probably plays at least as great a role as matter injury, 13 (21%) had an ischemic stroke, and five carotid ligation in causing infarction. (8%) had intraventricular hemorrhage. Postoperative Deep hypothermic circulatory arrest (DHCA) was brain injury in this cohort was more likely to consist of developed by Kirlin and associates in the mid-twentieth white matter injury than stroke and occurred more often century and subsequently applied to children with conin association with surgery for single-ventricle syngenital heart disease (Barratt-Boyes et al., 1971). DHCA dromes and aortic arch obstruction. New postoperative facilitates a bloodless operative field during intracardiac white matter injury was more likely to occur in individsurgery, but some studies suggest that the risk of neurouals who had low mean blood pressure during the first logic dysfunction increases when the duration of circupostoperative day (McQuillen et al., 2007). Not surprislatory arrest exceeds 45–50 minutes. The Boston ingly, the frequency of brain injury is higher among Circulatory Arrest Trial documented lower IQ, higher babies with clinical or electrographic seizure activity rate of acute clinical seizures, and abnormal EEG in chil(Gaynor et al., 2005). dren undergoing circulatory arrest than in those who Stroke can occur in conjunction with any of the surwere managed with low flow cardiopulmonary bypass. gical procedures (Table 5.2) used to treat congenital Longer DHCA times were associated with lower IQ heart disease. Focal infarctions during surgery typically scores (Wypij et al., 2003), but 8 years later, the only preresult from thromboemboli, although stroke due to air or dictor of significant cognitive dysfunction was a longer gas embolism has been recorded (Buompadre and circulatory arrest time (McGrath et al., 2004). Arroyo, 2008). Although the procedure-related stroke Seizures following cardiac surgery often signal brain risk is substantial, in many instances the infarction ischemia or thromboembolism. Neonates are more likely clearly occurs prior to the surgery (McQuillen et al., to develop seizures after cardiac surgery than infants or 2007; Chen et al., 2009). Depending on their size and older children. Gaynor and colleagues documented elecnumber, emboli can cause either large artery ischemic troencephalographic seizures in 15 (14%) of 110 neonates strokes or diffuse neurologic dysfunction from multiple and five (7%) of 68 older infants (Gaynor et al., 2005). small artery occlusions. Microemboli can be detected in Although seizures are clinically obvious in many individsome individuals by transcranial Doppler during cardiouals, electroencephalographic changes in the absence of pulmonary bypass, but the extent to which microemboli obvious clinical seizures are common, especially among correlate with an increased risk of stroke is uncertain neonates. One report documented 21 (11.5%) neonates (Rodriguez and Belway, 2006). Exposure of circulating with electroencephalographic seizures among 183 indiblood in the bypass circuit materials may increase the viduals undergoing cardiac surgery, and none of the stroke risk by activating coagulation responses. babies had clinically obvious seizures (Clancy et al., Extracorporeal membrane oxygenation (ECMO) is 2005). Patients with clinical or electrographic seizures sometimes utilized in cardiac surgery in children who have following cardiac surgery are more likely to exhibit difficulty separating from the cardiopulmonary bypass or long-term neurologic dysfunction and more apt to have other issues (Aharon et al., 2001; Ravishankar et al., 2006). abnormal findings on brain magnetic resonance imaging Given the very severe illnesses that necessitate the use of (Rappaport et al., 1998). Individuals who require longer ECMO, these individuals have a predictably high mortality bypass times or longer periods of hypothermia are and morbidity rate (Huang et al., 2005). The mortality rate more likely to develop seizures (Gaynor et al., 2005), for individuals requiring prolonged ECMO is even higher so the occurrence of postoperative seizures may only (Ravishankar et al., 2006). Despite the sacrifice of the right indicate the occurrence of ischemic or other complicacarotid artery in an individual who is typically very hyptions. Nevertheless, frequent or prolonged seizures oxic, ischemic stroke is relatively uncommon in patients could exacerbate the effects of an earlier ischemic undergoing ECMO. In one report, for example, there were injury.

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Choreoathetosis and other movement disorders have been documented in children with congenital heart disease. The abnormal movements most often affect the limbs, orofacial musculature, or the tongue (Gherpelli et al., 1998). Choreoathetosis typically occurs during the postsurgical period. Most postoperative movement disorders are transient, but symptoms persist in some individuals (Wong et al., 1992).

LABORATORY INVESTIGATIONS A complete discussion of the diagnosis of congenital heart anomalies is beyond the scope of this chapter. Congenital heart lesions are usually suspected on the basis of characteristic signs and symptoms, although some heart lesions are discovered in an individual without cardiac symptoms who has had a stroke. Increasingly, genetic testing allows confirmation of underlying syndromes that feature congenital cardiac anomalies (Table 5.3). Congenital heart defects are often confirmed by echocardiography, and this study may be sufficient for children with relatively straightforward lesions. Echocardiography also helps to pinpoint structural cardiac defects, intraluminal thrombus, vegetations, and cardiac tumors. Individuals with more complex cardiac anomalies usually require cardiac catheterization. Transesophageal echocardiography is more sensitive than transthoracic echocardiography for the detection of structural cardiac lesions in adults (de Bruijn et al., 2006). In children, however, transesophageal echocardiography can be technically more difficult and less useful, particularly in small children with thin chest walls (Hubail et al., 2011). In one study, transthoracic and transesophageal echocardiography were compared in the assessment of patent foramen ovale among 50 children less than 1 year of age. Transthoracic echocardiography was conclusive in 43 of 50 (83%) children, and the two techniques differed in only one of the 43 children with conclusive results (Hubail et al., 2011). Transthoracic studies are less sensitive for valvular vegetations. Saiman and colleagues (1993) found vegetations by echocardiography in only 25 of 49 children with confirmed endocarditis. Echocardiography with either technique has a low yield in children with a normal cardiac examination, an unremarkable chest X-ray, and a normal electrocardiogram. Nevertheless, echocardiography is reasonable when there is a strong suspicion of a cardiac lesion. Neurologic abnormalities in patients with cardiac anomalies are identified in the same fashion as they are in other individuals, and these studies are reviewed in more detail in other chapters. Magnetic resonance imaging can identify cerebral embolic infarctions,

migrational anomalies, and periventricular leukomalacia (Galli et al., 2004). Psychological testing helps to document the extent of cognitive impairment. Catheter angiography and computed tomographic angiography may be necessary to demonstrate infectious aneurysms.

MANAGEMENT Management of acidosis, hypoglycemia, hypoxemia, and volume depletion is essential. Appropriate medical therapy of arrhythmias and congestive heart failure is also recommended (Roach et al., 2008). Administration of prostaglandin E is a useful means of maintaining patency of the ductus arteriosus in individuals whose cardiac anomaly requires it. Most complex congenital heart disease requires immediate corrective or palliative surgical intervention, and the trend in recent years has been to perform surgery as early as is feasible. Optimal correction probably reduces the child’s risk of thromboembolism and may improve the eventual development and cognitive function in some individuals. Palliative surgery is associated with a higher degree of adverse neurodevelopmental outcome compared to corrective surgery (Dittrich et al., 2003). Anticoagulation is recommended for individuals with congenital cardiac disease who are at substantial risk for recurrent embolic stroke. Low molecular weight heparin or warfarin is recommended for 1 year or until the lesion responsible for the risk has been corrected (Roach et al., 2008). For children with a suspected cardiac embolism with a lower or unknown risk for recurrent stroke, it is reasonable to consider aspirin (Roach et al., 2008). Treatment of infective endocarditis with appropriate antimicrobial agents is essential. Anticoagulation is not advised because of the risk of hemorrhage in these individuals (Roach et al., 2008). The American Heart Association guidelines for the prevention of infective endocarditis recommend antibiotic prophylaxis for individuals with high risk congenital cardiac lesions who are undergoing dental procedures that involve gingival manipulation or perforation but not for those undergoing genitourinary or gastrointestinal tract procedures (Wilson et al., 2007).

CONCLUSION The progress of medical and surgical interventions has dramatically improved survival and reduced morbidity and mortality in individuals with congenital heart disease. Palliative and corrective surgical procedures allow most of these individuals to survive into adult life. Neurologic complications from congenital heart anomalies include embolic stroke and infectious aneurysm.

NEUROLOGIC COMPLICATIONS OF CONGENITAL HEART DISEASE AND ITS TREATMENT Neurodevelopmental impairment occurs in some individuals. Identification of genetic abnormalities that promote complex congenital cardiac disease facilitates genetic counseling and the identification of other anomalies. An interdisciplinary team that cares for these children into adulthood is ideal.

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Neurologic complications of congenital heart disease and its treatment.

Advances in surgical and medical management have dramatically improved the survival of individuals with congenital cardiac anomalies. Various neurolog...
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