† Deceased.
Congenital malformations of the heart, by definition, originate in the embryo, then evolve during gestation, and change considerably during the course of extrauterine life. Before World War II, these malformations were regarded as hopeless futilities. Abbott was advised by William Osler to devote herself to the anatomic specimens in the collection at McGill University, and Helen Taussig was advised to occupy herself with the hopeless futilities in the Harriet Lane Children’s Clinic at Johns Hopkins University. Congenital heart disease (CHD) in adults was then an oxymoron.With the advent of relatively recent refined surgical, anesthesic, and interventional techniques, these infants and children are now surviving into adulthood, and CHD in adults has become a reality.
Clinical recognition of congenital malformations of the heart has long depended on information from four primary sources—the history, the physical examination, the electrocardiogram (ECG), and the chest radiograph. Routine diagnostic tools now include transthoracic echocardiography (see Chapter 6 ).
The medical history is an interview—a clinical skill not easily mastered. Questions must be pertinent and one must learn to listen.
The physical examination includes the general physical appearance, the arterial pulse, the jugular venous pulse, inspection of the chest, precordial percussion and palpation, and auscultation.
The ECG (Willem Einthoven, 1903) and chest radiograph (Wilhelm Conrad Roentgen, 1895) continue to provide key diagnostic insights in 2016, even in complex CHD.
Echocardiography —two-dimensional (2D) echocardiography with color flow imaging and Doppler interrogation—has taken its place routinely as a part of the clinical assessment alongside the time-honored ECG and chest radiograph, and is reviewed in detail in [CR] .
Maximum information should be extracted from each of these sources while relating information from one source to that of another, weaving the information into an integrated whole. Each step should advance our thinking and narrow the diagnostic possibilities. By the end of the clinical assessment, untenable considerations should have been discarded, the possibilities retained for further consideration, and the probabilities brought into sharp focus.
Diagnostic thinking benefits from anticipation and supposition. After drawing conclusions from the history, for example, it is useful to pause and ask, “If these assumptions are correct, what might I anticipate from the physical examination, ECG, the radiograph, or the echocardiogram to support or refute my initial conclusions?” Anticipation heightens interest and fosters synthesis of each step with the next.
Medical History
In adults with CHD, the history begins with the family history. Has CHD occurred among first-degree relatives? Was there maternal exposure to teratogens or environmental toxins during gestation? Was birth premature or dysmature? How soon after birth was CHD suspected or identified? Did the child squat or have cyanotic spells? The maternal parent is likely to be the best source of this important, if not crucial, information. The mother will surely recall whether her neonate remained in the hospital after she was discharged and is likely to remember whether the initial suspicion of CHD was a murmur or cyanosis. In mentally impaired patients, the history is necessarily secured through a parent or guardian.
The ABCs of the medical history in adults with CHD reside in determining (1) the anatomy, that is, the cardiac anomaly the patient had at birth; (2) the beneficial intervention, that is, what intervention (if any) the patient underwent and at what time (age and calendar time); and (3) the common cardiac sequela after intervention.
Anatomic Diagnosis
Identifying the anatomic diagnosis at birth through the interview with the patient/parent or through chart review is of fundamental importance. This immediately sets the stage for which surgery or intervention the patient likely underwent and for possible cardiac residual sequelae the patient may have.
Surgical/Interventional Treatment
Determining which surgical or interventional treatment(s) the patient has undergone, at what age, and what calendar year the intervention occurred will help sharpen your focus for the rest of the history taking while you look for specific symptoms. For example, a patient with D transposition of the great arteries (DTGA) who underwent a surgical procedure in the 1980s likely had a Mustard procedure (atrial switch) and may complain of dyspnea on exertion because of systemic right ventricular failure. On the other hand, a patient with DTGA who underwent a procedure after 1990 likely had an arterial switch and will be asymptomatic or rarely have chest pain from coronary artery stenosis from relocation. Similarly, a patient who underwent coarctation repair in infancy may have evidence of recoarctation of the aorta on physical examination with systemic hypertension, whereas a patient who underwent repair in late childhood may have residual systemic hypertension from abnormal noncompliant arterial vessels.
Common Sequela Post Intervention
Knowing the common sequela after cardiac surgery or catheter intervention for each specific cardiac diagnosis will help you focus your history taking and anticipate your findings on physical examination. For example, a patient with tetralogy of Fallot (TOF) who underwent primary repair in the 1990s likely had a transannular patch repair and now has significant right ventricular dilation from free pulmonary regurgitation. The history will then focus on the presence or absence of palpitation and/or syncope from ventricular tachycardia and symptoms of right-sided heart failure. Similarly, in a patient who underwent a Fontan procedure, history taking will focus on the presence or absence of palpitations since 30% or more of Fontan patients develop arrhythmias in adulthood.
Symptomatology
Exercise capacity or dyspnea (New York Heart Association [NYHA] class) in acyanotic patients can be judged by comparing their ability to walk on level ground with their ability to walk up an incline or stairs. In judging the presence and degree of symptoms, it is good to remember that patients who describe themselves as asymptomatic before surgery often realize that they are symptomatically improved after surgery.
The presence or absence of chest pain and the characteristics of it (at rest vs. on exertion, pleuritic vs. angina, etc.) must be documented.
A history of palpitations can often be clarified by asking the patient to describe the onset and termination of the rapid heart action, the rapidity of the heart rate, and the regularity or irregularity of the rhythm. Physicians can simulate the arrhythmic pattern—rate and regularity or irregularity—by tapping their own chest to assist the patient in identifying the rhythm disturbance. Palpitations accompanied by dizziness or syncope are an ominous sign and need further workup.
A cyanotic congenital cardiac malformation or a postoperative heart with valvular prosthesis or residual shunt peripatch can be a substrate for infective endocarditis. Questions should focus on routine day-to-day oral hygiene of teeth and gums and on antibiotic prophylaxis before dental work.
Physical Examination
Physical examination of the heart and circulation includes the general physical appearance, the arterial pulse, the jugular venous pulse, the chest inspection, precordial percussion and palpation, and auscultation.
Physical Appearance
Certain physical appearances predict specific types of CHD. Down syndrome ( Fig. 5.1 ) is associated with an atrioventricular (AV) septal defect. Coexisting cyanosis predicts a nonrestrictive inlet ventricular septal defect with pulmonary vascular disease, to which Down syndrome patients are especially and prematurely prone. Williams syndrome is associated with supravalvular aortic stenosis and an increase in the right brachial arterial pulse. The probability of coexisting peripheral pulmonary arterial stenosis demands auscultation at nonprecordial thoracic sites. Differential cyanosis connotes flow of unoxygenated blood from the pulmonary trunk into the aorta distal to the left subclavian artery, a distinctive feature of a nonrestrictive patent ductus arteriosus with pulmonary vascular disease and reversed shunt. A patient with a webbed neck and short stature will likely have Turner syndrome and may carry a bicuspid aortic valve, a dilated aorta, and/or a coarctation of the aorta.
Arterial Pulse
With careful practice, the trained finger can become a most sensitive instrument in the examination of the pulse.
The ancient art of feeling the pulse remains useful in contemporary clinical medicine. The arterial pulse provides information on blood pressure, waveform, diminution, absence, augmentation, structural properties, cardiac rate and rhythm, differential pulsations (right-left, upper-lower extremity), arterial thrills, and murmurs.
In Williams syndrome, a disproportionate increase in the right brachial arterial pulse is attributed to the exaggerated Coanda effect associated with supravalvular aortic stenosis.
When coarctation of the aorta obstructs the orifice of the left subclavian artery, the left brachial pulse is diminished or absent, whereas the right brachial artery is hypertensive. An absent right or left radial pulse may corroborate the history of a right or left classic Blalock-Taussig shunt ( Table 5.1 ).
| Scar Location | Palliative Procedure | |
|---|---|---|
| Cyanotic heart disease | Right lateral (or thoracotomy) Left lateral (or thoracotomy) Midline sternotomy | Right Blalock-Taussig shunt (right subclavian artery to right pulmonary artery shunt) for PA-VSD, TOF, univentricle Left Blalock-Taussig shunt (left subclavian artery to left pulmonary artery shunt) for PA-VSD, TOF, univentricle Waterston shunt (ascending aorta to right pulmonary artery shunt) Potts anastomosis (descending aorta to left pulmonary artery shunt) for PA-VSD, TOF, univentricle |
| Acyanotic heart disease | — Left lateral (or thoracotomy) Midline sternotomy | Repair For coarctation <1980: for ASD, VSD, LVOTO, RVOTO, Ebstein, Mustard/Senning >1980: for Fontan, TOF >1990: for arterial switch |
Veins: Jugular and Peripheral
In 1902 James Mackenzie established the jugular venous pulse as an integral part of the cardiovascular physical examination, and in the 1950s Paul Wood furthered that interest. The jugular pulse provides information on conduction defects and arrhythmias, waveforms and pressure, and anatomic and physiologic properties. First-degree heart block is identified by an increase in the interval between an a wave and the carotid pulse, which is the mechanical counterpart of the PR interval, as often seen in congenitally corrected transposition of the great arteries; second-degree heart block, which is almost always 2:1 with this malformation, is identified by two a waves for each carotid pulse. In congenital complete heart block, a normal atrial rate is dissociated from a slower ventricular rate that arises from an idioventricular focus. Independent a waves are intermittently punctuated by cannon waves (augmented a waves), which are generated when right atrial contraction fortuitously finds the tricuspid valve closed during right ventricular systole.
In the normal right atrial and jugular venous pulse, the a wave is slightly dominant, whereas in the normal left atrial pulse the a and v crests are equal. A nonrestrictive atrial septal defect permits transmission of the left atrial waveform into the right atrium and into the internal jugular vein, so the crests of the jugular venous a and v waves are equal.
In TOF and in Eisenmenger ventricular septal defect, the right atrial pulse and jugular venous pulse may be abnormally elevated as a result of a restrictive right ventricle (in the case of TOF) or failing right ventricle (in the case of Eisenmenger syndrome).
In Ebstein anomaly, the waveform and height of the jugular pulse are normal despite severe tricuspid regurgitation because of the damping effect of the large right atrium. In severe isolated pulmonary stenosis, jugular a waves are large if not giant because of the increased force of right atrial contraction needed to achieve presystolic distention sufficient to generate suprasystemic systolic pressure in the afterloaded right ventricle (Starling law). Large a waves in tricuspid atresia coincide with restrictive interatrial communication; if the atrial septal defect is nonrestrictive, the right atrial waveform is determined by the distensibility characteristics of the left ventricle with which it is in functional continuity. Similarly, but for a different reason, the right atrial waveform, after an atrial switch operation for complete transposition of the great arteries, is determined by the distensibility characteristics of the left ventricle via the systemic venous baffle. After a Fontan operation, the waveform of the jugular venous pulse necessarily disappears because the right internal jugular vein and superior vena cava reflect nonpulsatile mean pulmonary arterial pressure.
Varicose veins are the most common clinically important vascular abnormality of the lower extremities and are important sources of paradoxic emboli via the right-to-left shunts of cyanotic CHD. Varices are commonly overlooked and often underestimated during routine physical examination because the legs are not exposed when the patient is lying on the examining table. Gravity distends the leg veins, so examination in the standing position is obligatory.
Chest Inspection
The presence of scars will confirm the history of a surgical intervention, and the location of scars helps you define its nature. Midline sternotomy are performed for intracardiac repair, whereas lateral scars (or thoracotomy scars) are often seen in Blalock-Taussig shunt (right or left) or coarctation repair (left) (see Table 5.1 ).
The presence of a pectus excavatum or carinatum may indicate some connective tissue disorders such as Marfan syndrome or Loeys-Dietz syndrome.
Precordial Percussion and Palpation
Information derived from percussion serves two purposes: (1) determination of visceral situs (heart, stomach, and liver) and, much less importantly, (2) approximation of the left and right cardiac borders. Situs inversus with dextrocardia is the mirror image of normal, so gastric tympany is on the right, hepatic dullness is on the left, and cardiac dullness is to the right of the sternum ( Fig. 5.2A ). All but a small percentage of patients with mirror image dextrocardia have no coexisting CHD, but if the malposition is not identified, the pain associated with myocardial ischemia, cholecystitis, and appendicitis will be misleading. In situs solitus with dextrocardia, gastric tympany is on the left and hepatic dullness is on the right, but cardiac dullness is to the right of the sternum (see Fig. 5.2B ). Predictable patterns of CHD coexist in most, if not all, patients with situs solitus and dextrocardia (see later). In situs inversus with levocardia, gastric tympany is on the right and hepatic dullness on the left (mirror image), but cardiac dullness is to the left of the sternum (see Fig. 5.2C ). CHD always coexists, but the type is not predictable.
