Pulmonary Hypertension Diagnosed in a 2-Year-Old: Early Signs Parents Missed
Patient Profile
Patient Name: Anaya R.
Age: 3 years
Gender: Female
Location: Navi Mumbai, Maharashtra
Patient Background
Nobody expected to find anything wrong with Anaya.
She was a healthy, active three-year-old. Ate well. Slept well. Ran around the house all day. No breathing problems. No blue lips. No feeding trouble. Her parents brought her in for a routine pre-school health checkup. Nothing more than that.
The paediatrician listened to her chest and paused. Listened again. There was a sound that shouldn’t be there. A continuous murmur, like a machine humming. She referred the family to a specialist immediately.
That referral changed everything.
Anaya’s parents weren’t prepared for what came next. Their daughter looked completely fine. She felt completely fine. But the murmur pointed to something that needed attention before it caused damage that wouldn’t be so quiet.
They were referred to a Heart Doctor for Children in Mumbai with specific experience in structural heart defects in young children. That was Dr. Prashant Bobhate at Kokilaben Dhirubhai Ambani Hospital.
Symptoms
- No visible symptoms at the time of diagnosis
- Continuous machinery-like heart murmur detected on routine auscultation
- Mildly elevated heart rate on clinical examination
- Slightly increased respiratory rate noticed on closer evaluation
- No history of feeding difficulty, poor weight gain, or blue spells
Diagnostic Method
Because Anaya had no obvious symptoms, the diagnostic approach was methodical and non-invasive:
- Clinical Auscultation a continuous machinery murmur heard loudest below the left collarbone, classic presentation of PDA
- 2D Echocardiography confirmed a Patent Ductus Arteriosus with left-to-right shunting, assessed the size of the duct and the degree of volume overload on the left heart
- Colour Doppler Imaging mapped the direction and volume of blood flow across the PDA
- Chest X-Ray showed mildly increased pulmonary vascular markings, consistent with increased blood flow to the lungs
ECG showed left ventricular volume overload pattern, confirming haemodynamic significance of the defect
Disease Diagnosed
Anaya was diagnosed with a Patent Ductus Arteriosus (PDA), a blood vessel called the ductus arteriosus that connects the aorta and pulmonary artery during fetal life and is supposed to close within hours to days after birth. In Anaya’s case it had remained open for three years without causing any obvious symptoms.
This is called a silent or incidental PDA. The vessel was small enough not to cause breathlessness or feeding problems but large enough to cause a measurable volume load on the left side of the heart. Over time, even a small unclosed PDA increases the risk of pulmonary hypertension, infective endocarditis, and irreversible changes to the lung vasculature.
The fact that Anaya felt fine was not reassurance. It was a window of opportunity.
Treatment Plan
After completing the full diagnostic workup and vasoreactivity testing, Dr. Prashant Bobhate designed a structured medical management plan tailored specifically for a two-year-old with idiopathic PAH.
Why Medical Management Was the First Approach
- Kabir’s vasoreactivity test showed a partial response to vasodilators, meaning his pulmonary vessels still had some capacity to relax and dilate
- This response made him a candidate for aggressive medical therapy before considering any surgical intervention
- Surgical options like the Potts Shunt are reserved for cases where medical therapy has failed and pressures have reached suprasystemic levels
- Starting treatment early, before right ventricular failure becomes established, gives the best chance of stabilising the disease and preventing progression
- Bobhate’s Pulmonary Hypertension Treatment in Mumbai clinic follows over 400 children on advanced therapy, making it the largest paediatric PH programme in Western India
Medications prescribed:
- Sildenafil (Phosphodiesterase-5 inhibitor) reduces pulmonary artery pressure by relaxing blood vessel walls
- Bosentan (Endothelin Receptor Antagonist) blocks a key pathway that causes pulmonary vessels to constrict and thicken
- Low-dose Aspirin reduces clotting risk within the pulmonary vasculature
- Supplemental Oxygen prescribed for use during sleep and high-exertion periods to maintain oxygen saturation
Kabir’s parents were trained to monitor his oxygen levels at home using a pulse oximeter and to maintain a written log for each follow-up visit.
Doctor’s Quote: “In very young children, pulmonary hypertension is often invisible until it isn’t. The signs are quiet, a child who sits more, tires faster, catches every infection. Parents notice these things. The mistake is assuming it’s normal. It rarely is.” — Dr. Prashant Bobhate, Best Pediatric Cardiologist in Mumbai, Kokilaben Hospital
Post-Treatment Guidelines
Managing PAH in a toddler requires consistent daily care alongside medications:
- Administer all medications at the same time daily, consistency is critical for PAH drugs to maintain therapeutic levels
- Monitor oxygen saturation at home twice daily and record readings
- Avoid environments with high altitude, extreme cold, or poor air quality, all worsen pulmonary pressures
- No strenuous physical play for the first three months, light supervised activity encouraged
- Ensure all routine vaccinations are up to date, respiratory infections are a major risk trigger in PAH children
- Attend follow-up echocardiograms every 3 months for the first year
- Cardiac catheterisation repeat planned at 12 months to reassess pulmonary vascular resistance
Outcome
Four weeks into treatment, Kabir’s breathing slowed down. His parents noticed it first, he wasn’t working as hard to breathe during meals.
At the three-month echocardiogram, right heart pressures had dropped measurably. His right ventricle had started to recover. He was playing longer before sitting down. Finishing his food. Sleeping through the night.
By six months, he had gained 1.4 kilograms. His oxygen levels during the day were consistently normal. The recurrent chest infections stopped.
At twelve months, the repeat catheterisation confirmed a significant reduction in pulmonary vascular resistance. Dr. Bobhate simplified his medication regimen from three drugs to two.
Kabir is now running. Not far. Not fast. But running.
Long-Term Expectations
Idiopathic PAH in toddlers requires lifelong monitoring. Kabir will remain on pulmonary vasodilator therapy through childhood and will need regular echocardiograms and periodic catheterisations to track his pulmonary pressures. The goal is to keep his right heart stable, prevent disease progression, and allow him to grow as normally as possible. If pressures climb despite optimal medical therapy in future years, escalation options including advanced prostacyclin therapy and surgical interventions remain available.
What Kabir's Family Said
“Every doctor we saw before Dr. Bobhate told us he was a slow developer. Just wait, they said. Dr. Bobhate was the first one who actually looked at the whole picture. Within a month of starting treatment, our son was a different child. We just wish we’d found him sooner.” — Sunita S., Kabir’s Mother, Thane