Evaluation of Suspected and Known Adult Congenital Heart Disease
Andrew R. Pistner
Anitra W. Romfh
INTRODUCTION
Epidemiology
Congenital heart disease (CHD) is the most common birth defect. The prevalence of CHD varies between 4 and 10 cases per 100 births and eventually 6 per 1000 in the adult population.1,2 In one study, adult congenital heart disease (ACHD) was found to be slightly more prevalent in women than in men.1 In addition, shunt lesions such as atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), or atrioventricular (AV) septal defects were found to be more common in women. In contrast, transposition of the great arteries (complete and congenitally corrected) and aortic coarctation are more commonly found in men.2
Risk Factors
Various risk factors increase the probability of CHD such as patient genetics, maternal characteristics, and prenatal exposures. Much of the data describing these risk factors come from retrospective, population-based studies. The association between these risk factors and CHD is nonspecific in relation to the individual defects.
The presence of maternal CHD is associated with an increased risk of CHD in their offspring estimated at 4% to 5%.3 The risk to offspring varies significantly among the cardiac defects but is at least twice as great when compared to mothers without CHD.3 Maternal diabetes is associated with an increased risk of CHD in their offspring.4 Pregestational diabetes mellitus is associated with an increased risk of conotruncal defects, D-transposition of the great arteries, AV septal defects, heterotaxy syndromes, and single ventricle physiology.4,5,6 The risk of CHD is greater in offspring of women with preexisting diabetes compared to those who develop gestational diabetes.6 In the National Birth Defects Prevention Study, tobacco use in the periconceptional period and first trimester of pregnancy was associated with an increased risk of right-sided obstructive cardiac defects as well as both ASDs and VSDs.7 Maternal use of certain medications in the periconceptional period and first trimester of pregnancy has also been associated with an increased risk of CHD; folic acid antagonists, such as methotrexate, are associated with a twofold increase in CHD [4]. The association between maternal lithium use and Ebstein anomaly in the fetus was described in the early 1970s,8 and more contemporary studies continue to show an increased risk ratio of 2.6.9
Genetic Syndromes
Various syndromic and nonsyndromic abnormalities are associated with CHD. With advances in genetic testing, diagnosis of these conditions in the pediatric period has become more common. However, patients with more subtle phenotypes of these syndromes may elude diagnosis into adulthood. The recognition of the features of these syndromes and their associated conditions provides direction in the evaluation of suspected CHD.
SYNDROMES ASSOCIATED WITH CONGENITAL HEART DISEASE
Down syndrome is the most common chromosomal abnormality associated with CHD and is most frequently caused by trisomy 21. Patients with this condition have facial dysmorphism, short stature, and cognitive defects. CHD is found in 40% to 50% of patients with Down syndrome, with the most common defects being AV septal defects, VSD, and ASD. Tetralogy of Fallot and PDA are seen more rarely. The adult patient with Down syndrome needs screening for comorbidities including sleep apnea, hypothyroidism, diabetes mellitus, and obesity which exacerbate cardiac disease. Evidence-based guidelines on the medical management of the adult with Down syndrome have recently been published.10
Turner syndrome is caused by a complete or partial absence of one of the X chromosomes and only affects females. Features of this syndrome include short stature, primary ovarian insufficiency, and a webbed neck. Cardiac manifestations of Turner syndrome include coarctation of the aorta and bicuspid aortic valve. Care of these patients benefits from a multi-disciplinary approach with close involvement of cardiologists, endocrinologists, and gynecologists.11
DiGeorge syndrome is characterized by deficiency or absence of the thymus and or parathyroid gland, craniofacial defects, and cardiac defects. Ninety percent of patients
with DiGeorge syndrome have a microdeletion of chromosome 22. The most common defects seen with 22q11 deletion include tetralogy of Fallot, interrupted aortic arch type B, truncus arteriosus, conoventricular VSDs, and other aortic arch abnormalities.12 Mild cognitive impairment and neuropsychiatric disease including schizophrenia are commonly seen in adult patients with DiGeorge syndrome and should be screened for as part of their care for early intervention and prevention of gaps in care.13 Given the autosomal dominant pattern of inheritance, women with suspected DiGeorge syndrome should be offered genetic testing in their preconception counseling visits.
with DiGeorge syndrome have a microdeletion of chromosome 22. The most common defects seen with 22q11 deletion include tetralogy of Fallot, interrupted aortic arch type B, truncus arteriosus, conoventricular VSDs, and other aortic arch abnormalities.12 Mild cognitive impairment and neuropsychiatric disease including schizophrenia are commonly seen in adult patients with DiGeorge syndrome and should be screened for as part of their care for early intervention and prevention of gaps in care.13 Given the autosomal dominant pattern of inheritance, women with suspected DiGeorge syndrome should be offered genetic testing in their preconception counseling visits.
Williams syndrome is an autosomal dominant condition caused by the deficiency of elastin and LIM kinase with a phenotypic presentation consisting of cardiac defects, infantile hypercalcemia, skeletal and kidney abnormalities, cognitive defects, and a “social personality.” CHD occurs in approximately 75% of children with Williams syndrome, and the most frequent defect is supravalvar aortic stenosis, often with concomitant coronary artery abnormalities; pulmonary artery stenosis is the second most common cardiovascular abnormality. Ninety percent of patients present with a microdeletion of chromosome 7q11.23. Cognitive performance declines earlier in patients with Williams syndrome compared with the general population,14 and this should be kept in mind with the adult patient.
Alagille syndrome is also an autosomal dominant condition and has features of cholestasis, skeletal and facial abnormalities along with cardiac defects such as peripheral pulmonary artery hypoplasia/atresia, tetralogy of Fallot, pulmonary stenosis, ASD, and VSD and is often associated with mutations in the JAG1 gene. Adult patients with Alagille syndrome require a multidisciplinary approach, given that liver disease and nutrition are significantly impacted.
Noonan syndrome patients often present with short stature, facial dysmorphism, webbed neck, and chest deformity. Associated CHD includes valvar pulmonic stenosis, AV septal defect, aortic coarctation, and hypertrophic cardiomyopathy. The majority of Noonan cases are owing to mutations in the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene.
The last major genetic syndrome associated with CHD is Holt-Oram syndrome, an autosomal dominant syndrome consisting of upper extremity defects (often hypoplastic or absent thumb) along with cardiac abnormalities such as an ASD or VSD. This syndrome is commonly caused by mutations in the T-box 5 (TBX5) transcription factor.12
The VACTERL association is the clinical description of various combinations of six conditions (supplying the acronym): vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb anomalies. Cardiac anomalies are common in the VACTERL association relative to the other components, with VSDs being the most common cardiac defect.15 Unlike the conditions described above, the genetics and causative etiology are not well understood at this time.
CLINICAL PRESENTATION
Patient History
The details of a patient’s initial diagnosis and treatment of CHD may be provided by the patient or a parent and collateral history is key, as patients themselves may not know or recall the decision-making regarding childhood surgeries. It is important to elicit exercise tolerance from childhood and adolescent activities (ie, physical education, sports) with respect to peers. This is key in both the undiagnosed patient who may be referred for suspected disease in adulthood (such as an ASD) and in the patient with known CHD to bring out a gradual change that has occurred as a result of a previously dormant lesion. One of the most important “stress tests” in adulthood for women is the tolerance of pregnancy and provides clues as to the impact of a specific lesion on functional status.
In addition, obtaining the operative reports from the originating institution may provide a wealth of details regarding both the patient’s initial presentation and the intracardiac anatomy that influenced one surgical procedure over another. The past often informs the future, and these details are essential in planning subsequent surgical and percutaneous interventions. Of note, female patient records will often require searching under a maiden name if a name change has occurred in adulthood through marriage, for example.
Physical Examination
Vital Signs
Vital signs can provide clues to underlying CHD and alert to alterations in cardiac physiology of those with known CHD. For example, a resting heart rate at the upper limit of normal in an atriopulmonary Fontan patient may heighten suspicion of an arrhythmia despite the seemingly “slow” rate, given the intra-atrial conduction delay. Baseline oximetry is an important measure, and additional measurement of pulse oximetry with ambulation provides information regarding latent ventilation/perfusion mismatch.
Four-Limb Blood Pressure
Measurement of blood pressure is part of the routine physical examination for patients with both acquired and CHD. In patients with known or suspected CHD, measurement of blood pressure in both arms, and at least one—but preferably both—leg provides a noninvasive assessment of the presence of aortic and peripheral arterial pathology. The systolic blood pressure should not differ more than 10 mm Hg between both arms. The presence of a greater arm blood pressure differential may be seen in left subclavian artery stenosis and aortic coarctation that is proximal to the left subclavian artery. Similarly, blood pressure in the lower extremities should be greater than that in the upper extremities owing to pulse wave amplification. Should the lower extremity blood pressure be lower by 20 mm Hg or more, the presence of aortic coarctation or restenosis after repair of coarctation should be suspected.16 With the increased use of percutaneous procedures for the treatment of CHD and repeated femoral arterial access, the presence of a
unilateral (usually right-sided) decreased blood pressure in a leg raises the possibility of femoral artery stenosis.
unilateral (usually right-sided) decreased blood pressure in a leg raises the possibility of femoral artery stenosis.
Inspection
Cyanosis is an abnormal blue discoloration of the skin and mucosa. Physiologically, cyanosis is the result of an increased absolute amount of deoxygenated hemoglobin present at the level of the capillaries. As such, the presence of cyanosis is dependent on the hemoglobin concentration (ie, a patient with increased hemoglobin may have a greater amount of deoxygenated hemoglobin compared to a patient with anemia).17 As such, cyanosis in anemic patients may elude the examiner. Central cyanosis is most easily appreciated in the gums and mucosa of the mouth where there is dense capillary structure, whereas peripheral manifestations may only be seen through clubbing. Digital clubbing is the focal swelling of the distal phalanx resulting from the growth of connective tissue.18 Clubbing can be the result of long-standing cyanosis but is also seen in other etiologies including malignancy, pulmonary disease, infection, inflammatory disease, and certain genetic conditions. Differential cyanosis (normal saturation of the upper extremity with lower saturation in the lower extremity) should raise the suspicion for a PDA with Eisenmenger physiology and in these patients, a toe saturation should be part of the routine examination.
Visualization of the jugular venous wave in the neck provides an estimation of the right atrial filling pressures and is a useful tool in evaluating suspected or known CHD, with a few caveats. In those patients with large and compliant right atrium, such as that seen in Ebstein anomaly, the pressure generated through the cardiac cycle may not be well transferred into the internal jugular veins. Similarly, the presence of stenosis between the internal jugular vein and the right atrium may also affect the appearance of the jugular venous pulse or may give clues to superior vena cava syndrome owing to systemic baffle obstruction in a patient with known complete transposition repaired by the atrial switch procedure. These patients may appear normal when seated upright on the exam table but may display a plethora of the head and neck when lying supine.
The presence of a pectus deformity of the chest may be seen in patients with CHD. Pectus excavatum or carinatum may be observed. There is also an increased incidence of scoliosis in patients with CHD.19 Early literature indicated that scoliosis was more prevalent in cyanotic forms of CHD,20 but the etiology is multifactorial.21 In addition, chest asymmetry with a left parasternal bulge may indicate a right ventricular pressure or volume condition prior to maturation of the ribs.22
The presence of surgical scars provides a road map to the patient’s previous surgeries. A median sternotomy is used in most CHD surgical procedures, and the presence of a right thoracotomy is commonly used in a right-sided Blalock-Thomas-Taussig (BTT) shunt. A left thoracotomy may indicate repair of coarctation of the aorta or that a left BTT shunt was performed in a patient with a right aortic arch.26 Of note, both a BTT shunt and coarctation repaired by subclavian flap have been associated with ipsilateral Horner syndrome, so a careful neurologic examination must be documented once a thoracotomy scar is found.23,24 In addition, accompanying growth asymmetry or restriction may be seen on the same side as the thoracotomy scar. A clamshell incision may have been employed with more complex cardiopulmonary lesions for improved exposure.25 With advances in percutaneous treatments, some patients may not have scars aside from those related to vascular access. It is important to note areas of prior vascular cutdown as this may negatively impact future percutaneous access. (See Figure 103.1.)
Palpation
Palpation of the chest reveals the point of maximal impulse, which is associated with the apex of the ventricles. This can be used to identify cardiac position within the left or right hemithorax in addition to other examination maneuvers. In patients with levocardia, the point of maximal impulse is located approximately at the fifth intercostal space, along the midclavicular line.27 The intensity, location, size, and duration of the point of maximal impulse may help identify cardiomegaly, as in other cardiology patients. Palpation of the parasternal area may reveal a precordial impulse that is variably referred to as a heave, lift, or thrust which suggests the presence of right ventricular pressure or volume overload.28 In patients with pulmonary hypertension with an enlarged pulmonary artery, a “tap” may be felt near the left midclavicular line near the second interspace.
Palpation of the upper abdomen identifies the position of the liver, which may be helpful in the heterotaxy patient with the recognition that the liver may occupy a position other than the right upper quadrant. The presence of hepatomegaly and tenderness with palpation indicates congestion of the liver. Pulsatility may also be seen in this scenario when there is concomitant tricuspid valve disease (either regurgitation or stenosis). If known cirrhosis is present, such as in a Fontan patient, one should palpate for the presence of splenomegaly, which would be indicative of portal hypertension.
Peripheral pulses may be abnormal in patients with CHD. For example, a diminished or absent brachial or radial pulse suggests a previous ipsilateral classic BTT shunt or subclavian flap repair of aortic coarctation. In this situation, if blood pressure is taken on the ipsilateral side of the scar, it may be notably low owing to collateralization. As such, patients should be educated to instruct medical providers to avoid blood pressure cuff measurement and arterial lines in this arm. The presence of a radio-femoral or brachio-femoral delay is critical in evaluating a patient with suspected coarctation of the aorta or re-stenosis following repair of this condition, because the presence of collateral vessels in a chronic coarctation may mask an upper to lower blood pressure gradient. In patients with severe native coarctation of the aorta, the dorsalis pedis and posterior tibialis pulses may be diminished and only detectable with the use of a Doppler probe.
Auscultation
Auscultation is a central part of the cardiac examination. The traditional four locations of cardiac auscultation must be adapted to the location and orientation of the heart within the
chest in patients with CHD. As such, the presence of “distant heart sounds” near the left fifth intercostal space at the midclavicular line may actually be the result of dextrocardia, and heart sounds should be auscultated on the right chest instead.
chest in patients with CHD. As such, the presence of “distant heart sounds” near the left fifth intercostal space at the midclavicular line may actually be the result of dextrocardia, and heart sounds should be auscultated on the right chest instead.
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