Page 25 - Delaware Medical Journal - September 2017
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CASE REPORT
FINAL DIAGNOSIS
Familial pulmonary arterial hypertension
HOSPITAL COURSE
After the cardiac catheterization revealed pulmonary hypertension, a PICC line
was placed, and the patient was treated with IV treprostinil, oral macitenan, anti-coagulation, and oxygen therapy. Since diagnosis and discharge from the hospital and with aggressive titration of treprostinil infusion, the patient notes improved symptoms of dyspnea, chest pain, and shortness of breath. Objectively, she has demonstrated increased six-minute walk test distances and a follow-up cardiac catheterization (three months after therapy initiation) shows marked improvement in cardiac output. However, given the severity of her pulmonary hypertension, the patient will require close, life-long follow-up with cardiology and may eventually require evaluation for lung transplantation.
DISCUSSION
Although rare, pulmonary hypertension (PH) is an important cause of pediatric dyspnea symptoms, the diagnosis can be challenging for physicians to make and is often delayed for several months to years until the disease has progressed. This case emphasizes the need to maintain a wide differential when evaluating pediatric dyspnea.
pressure > 25 mmHg at rest or a pulmonary vascular resistance index (PVRi) greater than 3 Woods units x m2 measured
via cardiac catherization. It is more
IMAGE 2
CT angiogram showing a severely dilated main pulmonary artery.
commonly associated with other underlying cardiopulmonary or systemic conditions with an overall incidence from registry data of approximately 64 per million children. Idiopathic or familial PH is even more rare, with an approximated incidence of 0.7 cases per million children.1
idiopathic PH which also includes familial causes (Group 1), PH due to left heart or underlying structural heart disease (Group 2), PH due to lung disease or hypoxemia (Group 3), chronic thromboembolic PH (Group
4), and PH with multifactorial or unclear mechanisms (Group 5).2
When the diagnosis of PH is made, one should perform a thorough history and physical as well as a diagnostic work-
up to exclude other treatable causes of secondary PH. This work-up depends on patient characteristics and risk factors,
but generally includes an EKG and echocardiogram to evaluate for congenital or acquired heart disease, pulmonary function testing, ventilation/ perfusion scans, and
a CT angiogram of the chest to evaluate for interstitial lung disease and chronic pulmonary thromboembolic disease, and an extensive serum laboratory evaluation for potential infectious, hematologic, and collagen-vascular disorders which may be associated with PH.4
When diagnostic work-up for secondary causes of PH does not identify a secondary cause, patients are considered to have idiopathic PH. Approximately 30 percent of these patients, some with a positive family history, will have a genetic mutation associated with PH. The most common mutation — accounting for 70 percent morphogenetic protein receptor (BMPR) Type II gene, which is a member of the 5 Another rarer genetic mutation associated with PH occurs in the activing receptor- like kinase type I gene. These patients predominantly have co-existing hereditary hemorrhagic telangiectasia and PH. Studies have shown that children and adults with the BMPR2 gene mutation associated
with PH are less likely to respond to acute vasodilator testing than patients who are
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