Page 26 - Delaware Medical Journal - September 2017
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CASE REPORT
mutation-negative and may have a more severe form of disease at diagnosis.6, 7 Of note, this patient’s previously asymptomatic father was diagnosed with severe pulmonary hypertension approximately six months later following a syncopal episode.
Initial symptoms of PH may be vague
diagnosis. The most commonly reported symptoms in order children are exertional dyspnea and progressive fatigue, while younger children and infants may have appetite, tachycardia, diaphoresis and irritability. Syncopal episodes and chest pain are rarer symptoms and indicate more advanced disease.4
Dyspnea is not an uncommon complaint in pediatrics and is usually associated with more common conditions such as asthma, lower respiratory tract infections, and deconditioning. However, if patients fail to improve with standard therapy for these conditions, work-up including chest x-ray, EKG, and pulmonary function testing should be considered to help evaluate these symptoms.
Patients with PH may have signs of pulmonary artery enlargement on chest x-ray or “pruning” of peripheral pulmonary blood vessels. An EKG may show signs of
REFERENCES
1. van Loon R, Roofthooft M, Hillege H et
al. Pediatric pulmonary hypertension
in the Netherlands: epidemiology and characterization during the period 1991 to 2005. Circulation. 2011;124:1755-1764. doi:10.1161/circulationaha.110.969584.
2. Simonneau G, Robbins IM, Beghetti M,
et al. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol. 2009 Jun 30;54:S43-54. doi: 10.1016/j. jacc.2009.04.012.
3. Abman S. New guidelines for managing pulmonary hypertension. Curr Opinion
right atrial enlargement or right ventricular hypertrophy. Pulmonary function testing can exclude asthma as a cause of dyspnea and may reveal normal values or a restrictive process in patients with PH.
While there is no cure for PH, targeted therapies have improved quality of life and survival in these patients. If an underlying underlying cause should be initiated. Oxygen typically is used to provide some degree
of pulmonary vasodilation and improve oxygen-carrying capacity. Anticoagulation
is typically recommended in older children because of increased thromboembolism risk, but it should be used cautiously in younger children prone to falling. Three drug classes are commonly used in Group 1 PH patients deemed to have disease severity requiring medical intervention. Phosphodiesterase-5 endothelin receptor antagonists (e.g. bostentan and ambristentan) and prostacyclin analogs (e.g. epoprostenol and treprostinil) are all powerful medications with different Patients frequently require a combination
of medications and some patients, despite optimal medical management, will eventually require surgical therapy, such
as an atrial septostomy or Pott’s shunt to unload the right heart or possible lung transplantation.8
Pediatr. 2016;28:597-606. doi:10.1097/ mop.0000000000000403.
Ivy D, Abman S, Barst R et al. Pediatric pulmonary hypertension. J Am Coll Cardiol. 2013;62:D117-D126. doi:10.1016/j. jacc.2013.10.028.
Cogan J, Pauciulo M, Batchman A et al. High frequency of BMPR2 exonic deletions/ duplications in familial pulmonary arterial hypertension.
Am J Respir Criti Care Med. 2006;174:590- 598. doi:10.1164/rccm.200602-165oc.
Elliott C. Relationship of BMPR2 mutations to vasoreactivity in pulmonary
CONCLUSION
Pulmonary hypertension, especially
when secondary to genetic causes and not associated with other cardiopulmonary or systemic diseases, is a rare but important cause of pediatric dyspnea. Because of the diagnosis often is delayed until the disease has progressed and treatment options are more limited. This case highlights the need to maintain a high index of suspicion when evaluating pediatric dyspnea, especially when symptoms do not respond to standard therapy for more common conditions such as asthma.
CONTRIBUTING AUTHORS
■ ABIGAILSTRANG,MDwasaPediatricPulmonary Fellow at Nemours/A.I. DuPont Hospital for Children in Wilmington, Del. at the time of this case report. She will be pursuing a fellowship in Pediatric Sleep Medicine at Boston Children’s Hospital.
■ ANNEMARIEDALY,DOwasaPediatricResident at Nemours/A.I. DuPont Hospital for Children in Wilmington, Del. at the time of this case report. She will be completing a Chief Residency year at A.I. DuPont Hospital for Children.
■ MICHAEL McCULLOCH, MD is an Attending Pediatric Cardiologist at Nemours Cardiac Center at Nemours/A.I. DuPont Hospital for Children in Wilmington, Del.
4.
5.
6.
7.
arterial hypertension. Circulation. 2006;113:2509-2515. doi:10.1161/ circulationaha.105.601930..
Rosenzweig E, Morse J, Knowles J et
al. Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension. J Heart Lung Transplantation. 2008;27:668-674. doi:10.1016/j. healun.2008.02.009.
8. Vorhies E, Ivy D. Drug treatment of pulmonary hypertension in children. Pediatr Drugs. 2013;16:43-65. doi:10.1007/s40272-013- 0052-2.
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