1.2.1 Gestational History

The gestational history includes the following specific questions:

• 
  

  Were there any indications of a congenital heart defect in the fetal ultrasound examinations? A large percentage of congenital heart defects can now be diagnosed prenatally using fetal echocardiography.

  
  
• 
  

  Were any chromosome anomalies or genetic diseases suspected or diagnosed prenatally?
  A number of genetic syndromes are associated with congenital heart defects (Chapter 23.1). Some of the most important are:

  
  
  
  
  • 
    

    Trisomy 21 (atrioventricular [AV] canal defect, ventricular septal defect [VSD], tetralogy of Fallot)

    
    
  • 
    

    Trisomy 13 (VSD)

    
    
  • 
    

    Trisomy 18 (VSD)

    
    
  • 
    

    VACTERL association (VSD)

    
    
  • 
    

    Microdeletion 22q11 (conotruncal heart defects such as tetralogy of Fallot, pulmonary atresia, truncus arteriosus communis)

    
    
  • 
    

    Noonan syndrome (pulmonary stenosis, hypertrophic cardiomyopathy)

    
    
  • 
    

    Turner syndrome (coarctation of the aorta, aortic stenosis, cardiomyopathy)

    
    
  • 
    

    Williams–Beuren syndrome (supravalvular aortic stenosis, peripheral pulmonary stenosis, coarctation of the aorta)

    
    
  • 
    

    Marfan syndrome (aortic root dilatation, aortic insufficiency, mitral valve prolapse, mitral valve insufficiency)

  
  
• 
  

  Did the mother take any medication or drugs or drink alcohol during pregnancy?
  Many medications are considered to be teratogenic. Taking any of the following products during pregnancy has been associated with congenital heart defects:

  
  
  
  
  • 
    

    Phenytoin (pulmonary stenosis, aortic stenosis, coarctation of the aorta, patent ductus arteriosus [PDA])

    
    
  • 
    

    Valproate (ASD, VSD, aortic stenosis, pulmonary atresia with intact ventricular septum, coarctation of the aorta)

    
    
  • 
    

    Lithium (Ebstein anomaly)

    
    
  • 
    

    Retinoic acid (conotruncal heart defects such as tetralogy of Fallot, truncus arteriosus communis)

    
    
  • 
    

    Amphetamines (VSD, PDA, ASD, transposition of the great arteries [TGA])

    
    
  • 
    

    Progesterone/estrogen (VSD, TGA, tetralogy of Fallot)

    
    
  • 
    

    Alcohol (VSD, PDA, ASD, tetralogy of Fallot)

  
  
• 
  

  Did or does the mother have diabetes mellitus or gestational diabetes mellitus?
  If the mother has diabetes mellitus, the child is at an increased risk of hypertrophic cardiomyopathy (reversible), TGA, VSD, and coarctation of the aorta.

  
  
• 
  

  Does the mother have systemic lupus erythematosus (SLE)?
  If the mother has SLE, the child has an increased risk of developing a congenital AV block. The transplacental transmission of maternal antibodies can destroy the child’s cardiac conduction system. Sometimes SLE has not yet been detected in the mother and is not diagnosed until an AV block is found in the child.

  
  
• 
  

  Did the mother contract a viral infection during pregnancy?
  A maternal infection with rubella in the first trimester can lead to peripheral pulmonary stenosis, PDA, and/or VSD.
  Infections with cytomegalovirus, herpes simplex, or Coxsackie B virus are considered to be potentially teratogenic. In late pregnancy, viral infections can cause congenital myocarditis.

1.2.2 Perinatal History

The perinatal history must include the following:

• 
  

  Birth weight, gestational age?
  The birth weight is the basis for monitoring progress. A low birth weight (“small for gestational age” [SGA]) can be an indication of an intrauterine infection.
  Neonates of mothers with diabetes mellitus are typically abnormally large and heavy.
  Neonates with TGA also frequently have a relatively high birth weight, but the cause for this is unclear.

  
  
• 
  

  Assessment of postnatal adaptation (Apgar score, pH)
  Cyanotic heart defects are a risk factor for perinatal asphyxia.

  
  
• 
  

  If cyanosis occurred, was there improvement after oxygen was administered?
  Hyperoxia test—an increase in pulse oximetry oxygen saturation after the administration of oxygen is more indicative of a pulmonary problem than of a cardiac problem.

  
  
• 
  

  Was a heart murmur found soon after birth?
  Cardiac defects that lead to obstruction (e.g., aortic stenosis, pulmonary stenosis) generally cause a heart murmur at an early stage. On the other hand, a murmur from a shunt defect (VSD, PDA) can usually not be heard until the pulmonary vascular resistance is lowered when the flow in the shunt increases.

1.2.3 Family History

The family history can determine whether there is a familial disposition for cardiac disease.

• 
  

  Have there been any congenital heart defects among close relatives?
  Around 1% of all neonates have a congenital heart defect. The risk is greater if there are close relatives with a congenital heart defect. In general, the risk is about 3% if a sibling has had a congenital heart defect. However, this risk varies depending on the kind of heart defect (Table 1.1). If the mother had a congenital heart defect, the risk is greater than if the father was affected (Table 1.2).

  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  

  Table 1.1 Risk of repetition of heart defects if a sibling is affected (from Nora JJ, Nora AH 1978)

  Heart defect	Risk of repetition
  VSD	3%
  PDA	3%
  ASD	2.5%
  Tetralogy of Fallot	2.5%
  Pulmonary stenosis	2%
  Coarctation of the aorta	2%
  Aortic stenosis	2%
  TGA	1.5%
  AV canal	2%
  Endocardial fibroelastosis	4%
  Tricuspid atresia	1%
  Ebstein anomaly	1%
  Truncus arteriosus communis	1%
  Pulmonary atresia	1%
  Hypoplastic left heart syndrome	1%

  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  

  Table 1.2 Child’s risk of certain heart defects if a parent is affected by this defect (from Nora JJ, Nora AH 1978)

  Heart defect	Mother affected	Father affected
  Aortic stenosis	13–18%	3%
  ASD	4–4.5%	1.5%
  AV canal	14%	1%
  Coarctation of the aorta	4%	2%
  PDA	3.5–4%	2%
  Pulmonary stenosis	4–6.5%	2%
  Tetralogy of Fallot	6–10%	1.5%
  VSD	6%	2%

  
  
• 
  

  Are there any genetic diseases associated with a heart defect or arrhythmia in the family?
  The most common genetic diseases associated with heart defects have already been listed above (e.g., Marfan syndrome). Examples of familial arrhythmia are long QT syndrome, Brugada syndrome, or familial atrial fibrillation.

  
  
• 
  

  Have there been frequent deaths or syncopes of unknown origin in the family?
  If the family history yields any such information, a differential diagnosis of ventricular arrhythmia, long QT syndrome, Brugada syndrome, and hypertrophic cardiomyopathy must be considered.

  
  
• 
  

  Has any family member had a heart attack at a young age?
  In this case, possible coronary anomalies and risk factors for coronary heart disease such as hereditary thrombophilia or hypertension must be explored.

1.2.4 Development of the Child

In this part of the medical history, specific questions are asked about symptoms that could indicate heart failure or cyanosis.

Weight gain

Insufficient weight gain is a typical sign of heart failure. Weight gain is generally more affected than growth in length in children with heart failure.

Feeding behavior

Feeding difficulties may indicate heart failure, especially when associated with rapid fatigue or sweating when feeding.

Physical performance in comparison with age group

Reduced exercise capacity can be a sign of heart failure and a symptom of all relevant cardiac diseases—for example, shunt defects, cyanotic heart disease, relevant valve obstruction, valve insufficiency, or severe arrhythmia.

In neonates and infants, physical capacity is best evaluated by observing feeding.

Tachypnea, dyspnea

Tachypnea and/or dyspnea are typical signs of heart failure. The symptoms generally increase under stress.

Frequent respiratory infections

Heart defects with a relevant left-to-right shunt and excessive blood flow to the lungs (e.g., a large VSD or AV canal) are predisposing factors for pulmonary infections. Chronic respiratory problems should alert to the possibility of vascular rings that compress the trachea (e.g., a dual aortic arch or right aortic arch with a left ductus/ligamentum).

Edema

Edema is a typical sign of heart failure. In neonates and infants, the first edema seen is generally eyelid edema.

1.2.5 Current Symptoms

The symptoms listed below are frequently the reason for consulting a pediatric cardiologist. The detailed differential diagnoses of the symptoms are presented in Chapters 11 to 15.

Chest pain

Most instances of chest pain in childhood and adolescence are not related to cardiac disease. The most frequent causes are costochondritis, muscle problems, respiratory diseases, or trauma. Gastroesophageal reflux or gastritis can also lead to chest pain.

Cardiac diseases that can cause chest pain include mainly myocarditis and pericarditis; other possibilities are relevant aortic stenosis, hypertrophic obstructive cardiomyopathy, pulmonary hypertension, mitral valve prolapse, myocarditis, or pericarditis.

Syncopes

When syncopes occur under stress and/or are associated with chest pain, a cardiac cause must be ruled out. Possible cardiac causes are arrhythmia (e.g., in the context of long QT syndrome), relevant aortic stenosis, or hypertrophic obstructive cardiomyopathy. Furthermore, congenital or already surgically treated heart defects in patients with syncopes must always alert to the possibility of a cardiac cause. The most important differential diagnoses are vasovagal syncopes and cerebral seizures.

Palpitations

Palpitations can be caused by paroxysmal or permanent tachycardia or extrasystoles. A mitral valve prolapse or hyperthyroidism should be ruled out.

Cyanosis

Parents are often concerned about cyanosis in young infants. If only the hands and feet are affected, it is generally a harmless peripheral cyanosis. However, cyanosis that occurs in mucosa and fingernail beds is indicative of central cyanosis. The time when the cyanosis first occurred needs to be clarified (at birth, a few days after birth), whether it is continuous or paroxysmal, and whether it increases under stress (e.g., during feeding). In addition to cyanotic heart defects, “breath-holding spells” should be considered, in which infants hold their breath, especially after exertion, and become cyanotic.

1.3.1 Inspection

The first step of the clinical examination is inspection. The examiner can get a first impression of the child while taking the medical history. The inspection should focus on the following aspects.

Nutritional condition

Heart defects that are associated with a large left-to-right shunt, pulmonary edema, or reduced ventricular function can lead to slow weight gain. Cardiac related failure to thrive is an indication for anti-congestive therapy (digoxin, diuretics, ACE inhibitors, possibly beta blockers) and for caloric supplementation if needed.

Extracardiac malformations

Extracardiac malformations occur in around 20% of all children with congenital heart defects. They frequently occur in combination with syndromal diseases. The most common syndromal diseases associated with a heart defect are presented in Chapter 23.

Skin color

If the hemoglobin level is normal, cyanosis will be noted if oxygen saturation is below 85%. Peripheral cyanosis and central cyanosis must be distinguished. In central cyanosis, arterial oxygen saturation is reduced. Correspondingly, the mucosa, tongue, and fingernail beds are cyanotic. In peripheral cyanosis, however, arterial oxygen saturation is normal. In this case, the cyanosis is caused by increased oxygen depletion at the periphery—for example, resulting from vasoconstriction due to cold or reduced cardiac output (heart failure). Isolated perioral cyanosis is observed especially in neonates and infants with pale skin and usually has no pathological significance.

Pronounced pallor can be a sign of vasoconstriction, when associated with heart failure or shock, for example.

Clubbing

Curvature of the nails and clubbed fingernails and toenails are typical signs of chronic cyanosis. Today they are seen almost only in adult patients with an Eisenmenger reaction.

Edema

In neonates and infants, edema occurs primarily around the eyelids and flanks. Pretibial edema and edema at the dorsum of the foot usually do not occur until children are older.

Sweating

Children with heart failure experience cold sweats due to activation of the sympathetic nervous system. The forehead is especially affected in children.

Thorax

When evaluating the thorax, thorax malformations should be noted. A funnel chest (pectus excavatum) and a pigeon chest (pectus carinatum) occurs frequently with Marfan syndrome. Scoliosis can be the result of a thoracotomy. A bulging chest (voussure) occurs in association with cardiomegaly. Hyperactive precordium is characteristic for volume overload (especially associated with a pronounced left-to-right shunt or severe valve insufficiency).

Respiration

Tachypnea can be characteristic not only of parenchymal lung disease, but is also a classic sign of a shunt defect with pulmonary hypertension, pulmonary edema, or metabolic acidosis. Tachypnea is often associated with subcostal, intercostal, or substernal retractions that indicate reduced pulmonary compliance. A Harrison groove (groove along the lower border of the thorax at the insertion of the diaphragm) indicates chronic reduction of pulmonary compliance or chronic dyspnea.

Orthopnea is a sign of reduced left ventricular function or increased pulmonary venous pressure.

Jugular veins

The jugular veins should not be visible in a half-sitting position at a 45° angle. Visible filling and pulsation of the jugular veins are signs of increased venous pressure (heart failure).