Differential Diagnosis
The patient's symptoms and echocardiography results suggest a congenital heart defect. Here are the possible diagnoses:
- Single most likely diagnosis
- Transposition of the Great Arteries (TGA): This condition is characterized by the two main arteries that carry blood out of the heart being reversed, resulting in the pulmonary and systemic circulations being in parallel rather than in series. The patient's symptoms, such as tachycardia, tachypnea, and low oxygen saturation, are consistent with TGA. The machine-like murmur over the precordium and the bluish discoloration of the face and trunk also support this diagnosis.
- Other Likely diagnoses
- Total Anomalous Pulmonary Venous Connection (TAPVC): This condition occurs when the pulmonary veins are not connected to the left atrium and instead connect to the right atrium or one of its tributaries. The patient's symptoms, such as tachycardia, tachypnea, and low oxygen saturation, could be consistent with TAPVC.
- Tricuspid Atresia: This condition occurs when the tricuspid valve is missing or abnormally developed, preventing blood from flowing from the right atrium to the right ventricle. The patient's symptoms, such as tachycardia, tachypnea, and low oxygen saturation, could be consistent with tricuspid atresia.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- Persistent Pulmonary Hypertension of the Newborn (PPHN): This condition occurs when the blood pressure in the pulmonary arteries remains high after birth, causing the blood to flow from the right side of the heart to the left side, bypassing the lungs. The patient's symptoms, such as tachycardia, tachypnea, and low oxygen saturation, could be consistent with PPHN.
- Congenital Diaphragmatic Hernia: This condition occurs when there is a hole in the diaphragm, allowing the abdominal organs to move into the chest cavity and compress the lungs. The patient's symptoms, such as tachycardia, tachypnea, and low oxygen saturation, could be consistent with congenital diaphragmatic hernia.
- Rare diagnoses
- Ebstein's Anomaly: This condition occurs when the tricuspid valve is abnormally formed and the right ventricle is small. The patient's symptoms, such as tachycardia, tachypnea, and low oxygen saturation, could be consistent with Ebstein's anomaly.
- Hypoplastic Left Heart Syndrome (HLHS): This condition occurs when the left side of the heart is underdeveloped, preventing the heart from pumping enough blood to the body. The patient's symptoms, such as tachycardia, tachypnea, and low oxygen saturation, could be consistent with HLHS.
The most appropriate pharmacotherapy for the patient with the single most likely diagnosis, Transposition of the Great Arteries (TGA), would be Alprostadil (B), also known as prostaglandin E1 (PGE1). This medication helps to keep the ductus arteriosus open, allowing for mixing of blood between the pulmonary and systemic circulations, which is essential for survival until surgical correction can be performed.