Clinical Evaluation
“Listen to what patients are saying because they are telling you the diagnosis”
In most cases, it is difficult to arrive at an accurate anatomic diagnosis of the specific congenital heart defect after only a history and physical examination. This is possible in some cases, such as for coarctation of the aorta and small ventricular septal defects (VSDs), but for more complex problems, sophisticated imaging studies, such as echocardiography, angiography, and magnetic resonance imaging (MRI), will be necessary.
However, it is extremely important to develop a differential diagnosis using the history, physical examination, chest x-ray, and electrocardiogram. To facilitate this, patients can be categorized on the following pathophysiologic bases. From this, one can plan the appropriate subsequent diagnostic and therapeutic steps.
Cyanotic heart disease with increased pulmonary blood flow
Transposition of the great arteries
Truncus arteriosus
Totally anomalous pulmonary venous return
Hypoplastic left heart syndrome
Tricuspid atresia without pulmonary stenosis or atresia
Tricuspid atresia with transposed great arteries
Cyanotic heart disease with decreased pulmonary blood flow
Tetralogy of Fallot
Pulmonary atresia and VSD
Pulmonary atresia and intact ventricular septum
Ebstein anomaly
Tricuspid atresia with pulmonary stenosis or atresia
Critical pulmonary stenosis (neonate)
Acyanotic heart disease with increased pulmonary blood flow and/or pulmonary congestion
VSD
Atrial septal defect (ASD)
Atrioventricular septal defect
Patent ductus arteriosus
Aorticopulmonary window
Systemic arteriovenous fistula
Pulmonary venous obstruction
Cor triatriatum
Obstructed total anomalous pulmonary venous return
Mitral stenosis
Acyanotic heart disease with ventricular outflow tract obstruction
Aortic stenosis
Pulmonic stenosis
Coarctation of the aorta
Obstructive hypertrophic cardiomyopathy
Acyanotic or cyanotic heart disease with poor systemic perfusion
Septic shock
Coarctation of the aorta (neonate)
Myocarditis
Cardiomyopathy
Critical aortic stenosis (neonate)
Critical pulmonary stenosis (neonate)
The presence of cyanosis is ascertained by observation or using a pulse oximeter. The presence of increased or decreased pulmonary blood flow is ascertained by the appearance of the pulmonary vasculature on chest x-ray. In addition, increased pulmonary blood flow is manifested by increased respiratory rate, poor feeding, failure to thrive, pallor, and intercostal, subcostal, and suprasternal notch retraction and head bobbing with breathing. The same signs and symptoms occur if there is an obstruction to pulmonary venous return such as in pulmonary vein stenosis, mitral valve stenosis, or decreased left ventricular compliance. Low cardiac output is manifested by fatigue, pallor, delayed capillary refill, tachycardia, peripheral cyanosis, syncope, and oliguria.
Unfortunately, with the proliferation of technology in the field of cardiology, trainees and practitioners are becoming less and less skilled in the art of history taking and physical examination. This is unfortunate because when the logical sequence of history, physical examination, chest radiogram, and electrocardiogram, followed by more technical tests such as echocardiography, cardiac catheterization, MRI, and magnetic resonance angiography (MRA) is not followed, mistakes in diagnosis and treatment will occur.
History and Physical Examination
This chapter is not intended to supplant a detailed textbook of history taking and physical examination. Rather, useful suggestions about history taking and physical examination are presented.
History
The historical points of interest, of course, will vary considerably, depending upon the age of the patient and the presenting signs, symptoms, and complaints. When evaluating a
newborn with cyanosis or congestive heart failure, the history will be rather brief. Obviously, one would want to know whether there is a family history of congenital heart disease or premature death and whether the baby was exposed to any teratogenic agents. It is very important to determine whether the baby is feeding well.
newborn with cyanosis or congestive heart failure, the history will be rather brief. Obviously, one would want to know whether there is a family history of congenital heart disease or premature death and whether the baby was exposed to any teratogenic agents. It is very important to determine whether the baby is feeding well.
For older patients, one needs to ascertain the presence of cardiac symptoms such as dyspnea, shortness of breath, palpitations, and syncope. It is important to know that the patient, his/her family, and the physician are all using the same definition of terms. For example, patients often will state that they have “passed out.” When asked what actually happened, it becomes clear that they did not really pass out but were just a bit light-headed. If patients respond that they are “short of breath,” one must have them define and quantify what they mean by “short of breath.”
Confusion frequently occurs when taking a family history of premature death. When asked about premature death, patients may respond that someone in the family died of a “heart attack.” The term heart attack means different things to different individuals. Most physicians equate the term “heart attack” with “myocardial infarction.” To the layperson, however, heart attack may include myocardial infarction, pulmonary embolism, sudden unexplained death (such as might occur with hypertrophic cardiomyopathy, prolonged QT-interval syndrome, or Brugada syndrome), and ruptured aortic aneurysm among many others. Hence, it is important to obtain accurate details to determine why a family member died.
Be aware of patients who do not answer the specific question or are imprecise in their answer.
For example,
Scenario A
Physician: “Have you ever fainted?”
Patient: “I had an aunt who fainted whenever she saw blood… and her sister died when she was 89 and the doctor thought that her heart had exploded.”
Comment: When dealing with a patient such as this, who gives rambling, imprecise answers, it is important to redirect the patient’s focus to the question.
Scenario B
Physician: “How many times have you fainted?”
Patient: “Lots of times.”
Comment: Note that the patient has not answered the question. The follow-up question should be, “Well, have you fainted about 10 times or about 100 times?”
Subsequent questions should be aimed at refining the answer with more and more precision.
Scenario C
Physician: “When you faint, for how long are you unconscious?”
Patient: “A long time.”
Comment: Follow-up question should be “Do you mean many seconds, minutes, hours, or days?”
Obtaining a family history is one of the pitfalls of good medical history taking. This is partly due to the patient’s lack of knowledge of his/her complete family history and may also be due to the poor questions posed by the examiner.
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