The first step for approach to the patient suspected of having a congenital heart disease is a thorough medical history. Data collection should be returned back to the fetal life. Some information related to the mother’s pregnancy could be very important. For example, infants born of mothers with diabetes mellitus may have different kinds of congenital heart defects (Rowland et al. 1973). According to one study, the incidence of congenital heart disease in this group is 4 %, which is five times the incidence in the general population (Mace et al. 1979). The defects are of a wide variety, but the most common lesion is the transposition of the great arteries (Driscoll et al. 1960). History of maternal systemic lupus erythematosus is also important because of its association with congenital cardiac disorders in the fetus.

Other maternal historical notes which are of diagnostic importance are rubella syndrome babies, premature infants, and children who were born and lived at high altitude. In all three situations, patent ductus arteriosus is possible (Moss 1992).

A history of maternal exposure to alcohol or drugs may provide a clue to diagnose the cardiac defect. A variety of drugs may cause different types of malformations in the offspring.

The physician should also ask about perinatal history that includes premature rupture of membrane, gestational age and Apgar score, asphyxia and cyanosis at birth, and any defects (even not heart-related) diagnosed at birth.

Another aspect of history taking is the family history. The presence of a congenital heart disease in a first-degree relative may be very important. According to Nora, the recurrence rate in a first-degree relative is 1–4 % (Nora and Nora 1976). The atrial septal defect, tetralogy of Fallot, ventricular septal defect, and patent ductus arteriosus are the most recurring lesions.

Now the physician should focus on the patient’s condition. The growth and development of the child should be considered very carefully. Height and weight gain can be affected by poor cardiac function, pulmonary edema, or a left-to-right shunt.

Inappropriate sweating has been frequently seen in infants with large left-to-right shunt. It is generally accepted that inappropriate sweating in an infant, particularly while feeding, is a reliable sign of overt or impending heart failure.

Syncope of cardiac origin is relatively rare in infants and children. When it occurs, it is almost always due to an arrhythmia (Nora 1968; Nora and Nora 1976; Moss 1992).

Endurance and exercise tolerance may be affected by underlying cardiac diseases, especially those involving obstructive lesions such as aortic and pulmonic stenosis.

Chest pain may be a symptom of congenital heart disease in children, although it is not common. The pain character can be atypical. It is usually induced by effort, but it can occur at rest. Aortic stenosis, pulmonic stenosis, mitral valve prolapse, and primary pulmonary hypertension are some congenital cardiac causes of chest discomfort (Selbst et al. 1990).

In the past, history of squatting was very common in patients with tetralogy of Fallot. Nowadays, this sign has been found infrequently.

Also, the physician should ask about palpitation. This can suggest sinus tachycardia, supraventricular or ventricular arrhythmia, and other irregular rhythms.

Each examiner should follow five steps in order to perform a complete cardiac physical examination: vital signs, inspection, palpation, percussion, and auscultation.

The first step is vital sign assessment. Heart rate and respiratory rate changes can be the first clues of myocardial failure, pulmonary congestion, or arrhythmia, well before changes in blood pressure occur. On the initial visit, blood pressures should be measured in both upper extremities and one lower extremity. Blood pressure measurement in young infants is achieved by following a special maneuver (Cobben et al. 2014; Strobel and Lu le 2015; Thomas and Battle 2015).

Each patient should be inspected for general appearance, nutritional status, skin color, and any kind of discomfort. All of the abovementioned items may be very important in diagnosis of underlying disease.

Cyanosis could be an important sign of cardiac lesion. It is categorized as peripheral and central cyanosis. Central cyanosis, which is due to the lesions of the lungs or the heart, involves the skin and the mucosa, in contrast to peripheral cyanosis. The differentiating point between pulmonary cyanosis and cardiac cyanosis is that the first diminishes with oxygen and crying. Cyanosis is clinically detectable when arterial saturation is less than 80 % to 85 % unless the patient is anemic. Cyanosis is a helpful clue because it places the defect within the cyanotic group of heart diseases (Moss 1992). The age at which cyanosis is first observed has important diagnostic implications. For example, most neonates with transposition of great arteries have obvious cyanosis in the first days of life, but in tetralogy of Fallot, cyanosis may be delayed for weeks or months (Levin et al. 1977).

Palpation is one of the most important parts of physical examination. Peripheral pulses, the chest, the abdomen, and the back should be palpated in each cardiac examination.

Visible or palpable pulsations sometimes provide a helpful clue to diagnosis, for example, pulsations in the suprasternal notch can occur with aortic stenosis or insufficiency. On the other hand, a diminished pulsation in the lower extremity is the hallmark of coarctation.

Percussion is primarily used to evaluate the total span of the liver. Chest percussion can detect pulmonary consolidation or effusion.

Auscultation is the final and probably most important step in physical examination. The examiner should recognize heart sounds and describe murmurs in terms of location, timing, severity, and radiation. The analysis of auscultation findings may lead to diagnosis of heart lesion.

The signs of congestive heart failure should be sought. These include pallor, sweating, cool extremities, tachypnea, tachycardia, jugular venous distention, hepatomegaly, edema, and ascites.

The association between cardiac defects and some genetic syndromes should be considered. The knowledge that some specific heart lesions predominate in some syndromes helps to provide the diagnosis (Grifka 1999).

Cardiac failure due to a congenital heart defect occurs mainly during infancy. At a given age, certain defects predominate. Thus, the age when heart failure begins is a helpful clue to diagnosis (Moss 1992).