A 1-year-old female came to clinic for her health supervision visit. She had a history of Down syndrome with ventriculoseptal defect and pulmonary hypertension that required hospitalization until repair at 3 months of life. After repair, she continued to have pulmonary hypertension that improved with oral medication and eventually she was weaned off it by 7 months of age. She had a history of poor feeding requiring nasogastric feedings with increased caloric density formulas. She again was being weaned off of the tube feedings and was using regular formula now. She was receiving physical therapy, speech therapy and occupational therapy and could sit without support, and was trying to pull herself up. She would take a few steps if supported. She had had 3 episodes of otitis media and otolaryngology was closely monitoring her for possible pressure equalizing tube placement in the future.
The pertinent physical exam showed a happy toddler with normal vital signs, and growth at the 10% for weight, 25% for length and head circumference using the Down syndrome growth charts. HEENT revealed small external ear canals with cerumen and 4 teeth in good condition. Her nasogastric tube was in place without significant irritation of the skin. She had a well-healed chest incision and her heart exam was S1, S2 without a murmur. Her upper and lower pulses were normal. Her neurological examination had hypotonia and the rest of her examination was normal.
The diagnosis of a patient with Down syndrome with previous ventriculoseptal defect and resolved pulmonary hypertension, along with improving feeding problems was made. She was given her 12 month vaccines and was already fully immunized for seasonal vaccines. Routine laboratory testing including thyroid disease screening was ordered and would be drawn the next time testing was done to monitor for her feeding problems. She was also referred to the dentist for routine dental care.
Discussion
Pulmonary hypertension (PH) is defined as a mean pulmonary artery pressure of ≥ 20 mmHg at rest (with normal being 11-20 mmHg). In children, because of the changes from fetal to newborn circulation, the caveat of being > 3 months of age is also sometimes added. There is increased pulmonary vascular resistance and decreased compliance, resulting in increased right ventricular afterload. Overtime, this can result in right heart failure and potentially severe morbidity and increased mortality. Left-sided cardiac output can be diminished, small airways obstructed with increasing PH that itself causes even more hypoxemia, hypercapnia and metabolic/respiratory acidosis all of which causes increased PH in a vicious cycle.
Patients often will have dyspnea, fatigue, syncope/near syncope and chest pain. These and other symptoms can occur at rest or with minimal exertion if there is advanced PH.
The overall estimated incidence of PH is 4-10 cases/million with a prevalence of 20-40/cases/ million depending on the geographical location. Patients with untreated PH have a very short lifespan that is even shorter in untreated children (10 months versus 2.8 years for adults). Overall 5-year survival rate in adults is about 60% currently.
Cardiac catheterization is the gold standard for evaluation but may be limited because of patient size and underlying health conditions in children. Echocardiography with doppler to estimate pulmonary artery systolic pressure is commonly used to evaluate and diagnose PH. Exercise testing can help to determine various cardiac and ventilatory factors which can be monitored for trends and response to therapy.
Conventional therapy can include a variety of different medications such as digoxin, diuretics, anticoagulants, and if severe, oxygen therapy. Other currently used medications include calcium channel blockers (potentially a good option for some patients with idiopathic or genetic causes), prostacyclins, endothelin receptor antagonists, phosphodiesterase-5 inhibitors and soluble guanylase cyclase stimulators. Surgical treatment can include atrial septostomy, Potts shunt and lung transplantation. In an intensive care setting inhaled NO (nitric oxide) is a selective pulmonary vasodilator used especially to treat acute events or periods of time until more definitive treatment for an underlying cause can be instituted such as congenital heart disease surgical correction or persistent PH of the newborn.
Learning Point
PH is classified into 5 different groups with multiple subgroups. In the pediatric age group the following are some of the most common causes of PH with an * denoting very common causes.
- Transient
- *Persistent pulmonary hypertension of the newborn
- Repairable congenital heart shunts where the PH resolves
- Congenital heart disease where PH is more likely persistent
- Single ventricle
- Ventricular septal defects
- Atrioventricular septal defects
- Hypoplastic left heart
- Transposition of the great arteries
- Pulmonary disease
- Vascular – veno-occlusive disease
- Intrinsic
- Connective tissue diseases
- Lung hypoplasia
- Developmental lung disease
- *Bronchopulmonary dysplasia
- Diagnosed in up to 20% of preterm infants and there is abnormal alveolar and vascular growth and maturation Risk factors include birth weight that is small for gestational age, lower gestational age, preeclampsia, oligohydramnios, prolonged oxygen and mechanical ventilation
- Congenital diaphragmatic hernia
- Congenital pulmonary vascular abnormalities
- *Bronchopulmonary dysplasia
- Genetic
- *Idiopathic
- Familial
- Syndromes – Down syndrome
Questions for Further Discussion
1. What are the 5 T’s of congenital heart disease? A review can be found here
2. What routine screening do patients with Down syndrome need?
3. What are longer-term health problems in patients with bronchopulmonary dysplasia?
Related Cases
- Disease: Pulmonary Hypertension | Congenital Heart Disease | Down Syndrome
- Symptom/Presentation: Health Maintenance and Disease Prevention
- Specialty: Cardiology / Cardiovascular-Thoracic Surgery | Critical Care | Neonatology
- Age: Toddler
To view pediatric review articles on this topic from the past year check PubMed.
Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews. Information prescriptions for patients can be found at MedlinePlus for these topics: Pulmonary Hypertension, Congenital Heart Disease and Heart Failure.
To view current news articles on this topic check Google News.
To view images related to this topic check Google Images.
To view videos related to this topic check YouTube Videos.
Oishi P, Fineman JR. Pulmonary Hypertension. Pediatr Crit Care Med. 2016;17(8 Suppl 1):S140-S145. doi:10.1097/PCC.0000000000000754
Ivy D. Pulmonary Hypertension in Children. Cardiol Clin. 2016;34(3):451-472. doi:10.1016/j.ccl.2016.04.005
Rosenzweig EB, Abman SH, Adatia I, et al. Paediatric pulmonary arterial hypertension: updates on definition, classification, diagnostics and management. Eur Respir J. 2019;53(1):1801916. doi:10.1183/13993003.01916-2018
Simonneau G, Montani D, Celermajer DS, et al. Haemodynamic definitions and updated clinical classification of pulmonary hypertension. Eur Respir J. 2019;53(1):1801913. doi:10.1183/13993003.01913-2018
Ruopp NF, Cockrill BA. Diagnosis and Treatment of Pulmonary Arterial Hypertension: A Review. JAMA. 2022;327(14):1379. doi:10.1001/jama.2022.4402
Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa