12-year-old girl diagnosed with pulmonary hypertension due to rare vascular malformation

Lam, 12 years old, had lived with pulmonary hypertension for 9 years without knowing the cause, until she accidentally discovered an extremely rare vascular malformation called extrahepatic portal-caval shunt.

Lam, 12 years old, had lived with pulmonary hypertension for 9 years without knowing the cause, until she accidentally discovered an extremely rare vascular malformation called extrahepatic portal-caval shunt.

This is a very rare birth defect, with a rate of only 1 in 30,000 births, causing the baby's pulmonary hypertension to go undiagnosed for a long time.

Baby Lam was born prematurely at 35 weeks of pregnancy and developed normally until she was 3 years old, when she suddenly fainted. After being treated at the Children's Hospital, doctors diagnosed her with primary pulmonary hypertension, a rare disease.

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Paraclinical tests did not find a specific cause, and the disease was determined to be idiopathic pulmonary hypertension. Lam was prescribed medication and followed up for follow-up examinations.

However, in 2021, due to the impact of the Covid-19 epidemic, the family could not take Lam for a follow-up examination and she also stopped taking her medication. The baby's health condition showed no signs of chest pain, shortness of breath or fainting, making the family think that the baby was healthy again.

In October 2024, Lam went for a general health check-up at the hospital. MSc. Dr. Van Thi Thu Huong, a congenital heart specialist at the Cardiovascular Center, said that the echocardiogram results showed that the baby had moderate pulmonary hypertension. Paraclinical tests were then ordered to find the cause of pulmonary hypertension.

During the diagnostic process, abdominal ultrasound detected an extremely rare congenital anomaly of the extrahepatic portal vein-caval shunt.

This is the cause of pulmonary hypertension in children, and is also a factor that is rarely thought of without performing in-depth tests. MSc. Dr. Thu Huong explained that this is a congenital malformation that is very difficult to detect and is easily missed if not paying attention.

Congenital portal-vena cava shunt is a rare malformation that occurs when there is an abnormal connection between the portal vein and the systemic veins, causing blood from the abdominal organs to bypass the liver and go directly into the circulatory system, causing many serious complications. This disease can lead to liver tumors, pulmonary hypertension, or endocrine disorders such as hyperandrogenism, hypothyroidism, or hyperglycemia.

After determining the cause, the doctor decided to intervene to close the portal vein-caval vein connection using specialized tools. Doctor Vu Nang Phuc, Head of the Congenital Heart Department at the Cardiovascular Center, said that in Lam's case, the connection between the portal vein and the caval vein was 10 mm in diameter and very complicatedly curved, causing difficulties during the intervention.

To perform the procedure, the doctors used a long guide wire, which is flexible at the tip and stiff at the body, to help push the interventional instrument into the necessary position without damaging the blood vessels. In addition, to ensure safety, two veins from the right and left thighs were used to monitor portal vein pressure throughout the intervention.

After one hour of intervention, the device was placed in the correct position and the patient no longer had acute portal hypertension. After two days, Lam was healthy and discharged from the hospital. Ultrasound results after one day showed no portal hypertension, and pulmonary artery pressure had decreased significantly.

Dr. Phuc recommends that after the intervention to close the portal vein - vena cava shunt, the family should take Lam for regular check-ups, perform echocardiograms and abdominal ultrasounds to monitor liver health, portal vein pressure, and pulmonary artery pressure. Regular monitoring is very important to detect and treat complications early, if any.

The discovery of a rare vascular malformation in baby Lam after many years of living with pulmonary hypertension is a remarkable case, showing the importance of regular health check-ups and accurate diagnosis of the disease.

This is also a warning about rare birth defects that can lead to serious problems if not detected and treated promptly.

Source: https://baodautu.vn/be-gai-12-tuoi-phat-hien-benh-tang-ap-phoi-do-di-tat-mach-mau-hiem-gap-d240610.html