Description
A congenital heart defect diagnosis can be made either before or after the baby is born. Fetal ultrasonography, which is a common prenatal test, can reveal signs of some cardiac problems. A healthcare provider may suspect a congenital heart abnormality in a newborn if the child has: Growth pauses. Variations in nail, tongue, or lip color. Treatment procedures need to be followed either before or during the diagnosis-making process.
Résumé
- Maternal history plays a crucial role in diagnosing congenital heart disease (CHD). Factors like maternal infections (e.g., Rubella), maternal diabetes, autoimmune diseases, advanced maternal age, and exposure to medications, smoking, or alcohol during pregnancy can significantly increase the risk of CHD in the offspring. Birth weight and weight gain patterns also provide valuable clues.
- Infant feeding patterns, particularly difficulty feeding, prolonged feeding times exceeding 30 minutes, or "suck-rest-suck" cycles, can be indicative of congestive cardiac failure (CCF). Exercise intolerance or dyspnea in older children are equivalent symptoms. Cyanosis is a key indicator, and ruling out respiratory or metabolic causes is essential to suspect cyanotic heart disease. Chest pain is not a common symptom but may occur in aortic stenosis, anomalous left coronary artery (ALCAPA), or Kawasaki disease.
- Physical examination begins with general appearance, noting the child's nutritional status (cardiac malnutrition), growth parameters (plotted on growth charts), and circulation. Respiration, including tachypnea and basal rales, is assessed. Cyanosis, clubbing, edema, and excessive sweating are also important observations. Extra-cardiac anomalies, venous pulsations, and blood pressure in all extremities are checked.
- Cardiac examination includes assessing the chest shape, palpating for heaves and thrills, and determining the point of maximal impulse (PMI). Percussion, although less common now, can help detect cardiomegaly or pericardial effusion. Auscultation should be methodical, listening for heart sounds, murmurs, and pericardial rubs in all four areas. Radiological examination (chest X-ray) provides additional information.
- CHD can be classified as structural (organic), functional (conduction defects or arrhythmias), or positional (dextrocardia). Manifestation can occur at birth, any time during life, or remain undetected until autopsy. Tachycardia, tachypnea, and irritability are non-specific signs, requiring further investigation.
- Distinguishing major and minor criteria (Nadas criteria) aids in diagnosis. Major criteria include systolic murmurs greater than grade 3, diastolic murmurs, cyanosis, and congestive heart failure. Minor criteria include abnormal ECGs, chest X-rays, or blood pressure readings. One major or two minor criteria suggest a cardiac problem. Congenital causes are more likely in early infancy, while acquired causes (rheumatic fever, viral infections) are more common in older children.
- Central cyanosis is characteristic of congenital heart disease. Differential cyanosis (pink fingers, blue toes) suggests persistent fetal circulation with pulmonary hypertension or complex cardiac lesions. Reverse differential cyanosis (blue fingers, pink toes) may indicate transposition of great vessels with persistent fetal circulation and pulmonary hypertension. Clubbing is quantified using pharyngeal depth ratios and hyponical angles.
- Pulmonary blood flow (PBF) can be normal, increased, or decreased. Increased PBF, often associated with left-to-right shunts (VSD, ASD, PDA), can lead to recurrent lower respiratory infections. When PBF exceeds systemic blood flow, cyanosis may be mild and easily missed. Chest X-ray findings provide information about lung fields and heart size.
- Specific heart defects are suggested by combinations of clinical findings. Ventricular septal defect (VSD) presents with a loud pansystolic murmur at the left lower parasternal border with radiation, while patent ductus arteriosus (PDA) features a continuous murmur at the left second intercostal space with radiation towards the neck. Atrial septal defect (ASD) is associated with fixed splitting of the second heart sound and a right bundle branch block pattern on ECG.
- Acyanotic heart disease with normal or decreased PBF includes pulmonary stenosis, aortic stenosis, mitral regurgitation, tricuspid regurgitation, and coarctation of the aorta. Cyanotic heart disease with decreased PBF includes tetralogy of Fallot, pulmonary atresia, transposition of great vessels, tricuspid atresia, and hypoplastic left heart syndrome. Each condition has characteristic heart sounds, murmurs, and ECG findings.
- Pulse oximetry screening before hospital discharge is crucial to identify asymptomatic cyanotic CHD. Premature infants and those with low birth weight pose diagnostic challenges due to the higher incidence of PDA and other malformations, making early diagnosis and management essential. Duct-dependent conditions like tetralogy of Fallot require immediate recognition and prostaglandin administration to maintain ductal patency.
- Management differs between stable and unstable CHD presentations. Stable conditions allow for thorough evaluation and planned intervention, while unstable conditions require immediate medical or surgical intervention. For example, a small VSD may be managed conservatively, while a large VSD causing severe congestive heart failure necessitates urgent surgical repair.
Exemple de certificat
À propos des intervenants
Dr Baldev Prajapati
Pédiatre consultant principal, hôpital pour enfants Akanksha, Ahmedabad
Divulgation financière
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