What happens when there is a defect and what types there are
Normally, the ventricles are completely separated by the muscular and membranous part of the septum. With a defect, a message remains, and the blood follows the path of least resistance - from left to right. The lungs receive excess blood volume, the left parts of the heart are stretched, and over time the pressure in the pulmonary artery increases. If the defect is small, the discharge is small and the heart copes. With a large defect, overload increases already in the first weeks of life, and without treatment, pulmonary hypertension develops.
- Perimembranous - most common, next to the valves
- Muscular - in the muscular part of the septum, often closes on its own
- Subarterial (infundibular) - under the pulmonary valves
- Multiple defects
- Restrictive (small) and non-restrictive (large) according to the magnitude of the discharge
Causes and risk factors
The septum is formed in the 4th–8th week of pregnancy, and it is during this period that it is affected by unfavorable factors. In most cases, it is impossible to name a specific reason - the defect is considered multifactorial. It is known that the risk is higher with chromosomal diseases, with decompensated diabetes mellitus in the mother, with certain past infections and taking a number of medications without medical supervision. Having a heart defect in close relatives also increases the likelihood.
- Chromosomal syndromes, including Down syndrome
- Maternal diabetes mellitus not well controlled
- Rubella and other infections in the first trimester
- Alcohol, smoking, taking anticonvulsants and other drugs without prescription
- Congenital heart defects in parents and siblings
Symptoms in children and adults
A small defect usually does not give rise to complaints, and is found by chance due to a heart murmur during examination. The large one manifests itself already in the first weeks: the child gets tired during feeding, sweats, breathes quickly, and does not gain weight well. Adolescents and adults with an unoperated defect may experience shortness of breath on exertion, interruptions in heart function, and decreased endurance. The appearance of blue skin indicates a change in the direction of the discharge and requires immediate evaluation by a cardiologist.
- Heart murmur heard by pediatrician
- Shortness of breath, sweating, fatigue when feeding
- Lag in weight and height
- Frequent respiratory infections and pneumonia
- In older children - shortness of breath on exertion, palpitations
- Cyanosis is a late and alarming sign
Diagnostics
The main method is echocardiography: it shows the location and size of the defect, the direction and volume of discharge, the size of the chambers, and the pressure in the pulmonary artery. In newborns, the study is done with a special children's sensor. An ECG helps to see overload of the ventricles, a chest x-ray helps to see an increase in the pulmonary pattern and an enlargement of the heart. Sometimes the defect is detected in utero during an ultrasound of the fetal heart. In difficult cases, cardiac catheterization is performed before surgery.
- EchoCG, in infants - EchoCG of newborns
- ECG with interpretation
- X-ray of the chest organs
- Pulse oximetry
- Fetal echocardiography for prenatal suspicion
- Cardiac catheterization according to indications
Treatment and observation
Tactics depend on the size of the defect and the condition of the child. Small defects without overloading the heart are simply observed: many of them close on their own within 2–5 years. If there are signs of heart failure, the doctor prescribes drug support and monitors weight gain, sometimes requiring high-calorie nutrition. Large defects and defects with increasing pulmonary hypertension are closed surgically with a patch under artificial circulation, and some muscle defects can be closed endovascularly with an occluder. All medications and timing of the operation are determined by the doctor.
- Regular observation by a pediatric cardiologist with control echocardiography
- Drug therapy for heart failure as prescribed by a doctor
- Nutrition support and weight gain control
- Surgical closure of the defect with a patch
- Endovascular closure with an occluder for suitable anatomy
- Prevention of infective endocarditis, oral hygiene
