Physical Address
304 North Cardinal St.
Dorchester Center, MA 02124
Clinical Assessment
† 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.
You're Reading a Preview
Become a Clinical Tree membership for Full access and enjoy Unlimited articles
If you are a member. Log in here
