The most important symptom of this disease is bruising, which is noticed at birth in some patients. In some patients, there is no bruising at birth, but it appears gradually over months. Additionally, towards the age of 1, thickening of the fingertips may be added to the findings. Rarely, in mild forms of the disease, bruising may not be observed at all.
The first thing that attracts attention in the baby is the bruising on the lips, which gradually increases over the months. Bruising becomes more noticeable during crying. After a few months, the baby may experience cyanosis and fainting attacks. Especially after waking up from sleep or following crying, a significant darkening of the baby's color, continuous crying, restlessness, deep breathing, slight absent-mindedness, or in severe cases, changes in consciousness may occur, leading to complete fainting.
If such a situation begins, the pediatric heart disease specialist should be informed immediately. To prevent these attacks, preventive medication is started; if the medication is not sufficient, surgery may be necessary.
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