Chronic Dyspnea and Acute Syncope in a 16-Year-Old Girl With Asthma

A 16-year-old girl presents to the emergency department with a complaint of syncope with activity.The patient states that earlier that day, while walking between classes, she felt dizzy and then passed out. The last thing she remembers before passing out is seeing stars. When she regained consciousness, she was laying on the ground, her chest hurt a little, and she felt tired. These symptoms have since resolved and she is currently asymptomatic. Per the school nurse’s notes, the loss of consciousness lasted approximately 2 to 3 minutes. There was no loss of bladder or bowel function and no jerking movements. The nurse recorded that an onlooking student reported the patient’s eyes rolled back into her head.The patient’s mother adds that a similar episode of loss of consciousness happened a few months ago, when the patient was running to catch a flight in the airport. The patient recalls that her chest felt tight and she had trouble catching her breath. She described that her “vision seemed to tilt and everything was swimming” in front of her. She woke up to find her parents peering over her. She skipped breakfast on the days of both events, so the family attributed the symptoms to dehydration and hunger. They did not think it was concerning and had not mentioned it to her primary care physician previously.The mother reports that the patient was born at term by Cesarean section following an uncomplicated pregnancy. Her perinatal history was unremarkable and newborn screen was normal. However, throughout childhood, she had wheezing with viral infections and activity. She was started on daily inhaled steroids at 6 years of age, which helped her wheezing and persistent symptoms of upper respiratory tract infections. At that time, her rescue bronchodilator use was infrequent. Around 2 years ago, she began to experience worsening exercise intolerance and was no longer able to play league soccer. The patient was seen by her pediatrician and treated with inhaled bronchodilators, oral antihistamines, oral leukotriene receptor antagonists, combination inhaled steroids/long-acting beta-agonist therapy, and oral steroids without improvement. Pulmonary function testing was reportedly normal; however, recommendation was made to continue the combination inhaled steroid with long-acting beta agonist for presumed worsening of exercise-induced asthma. Most recently, the pediatrician had referred the child to see psychology, for concern that the dyspnea was a manifestation of an underlying anxiety disorder; however, that appointment was still pending.At the present time, the patient is unable to climb stairs without breathlessness and experiences dizziness with minor activity. She has lost weight, 5 kg in the past 6 months, and does not have much appetite. She is not interested in doing activities that she used to enjoy, sleeps a lot, and seems to worry more. On review of systems, she does not have recurrent pneumonias, chronic cough, or greasy stools. She denies recurrent fevers, night sweats, joint pain or rashes, or chronic headaches. She reports seasonal allergies, acne, and menorrhagia. There has not been any trauma, and the child has not hit her head on the 2 syncopal occasions.She is up to date on all pediatric vaccinations, and current medications include inhaled fluticasone propionate/salmeterol 2 puffs twice daily with spacer and weekly norelgestromin/ethinyl estradiol transdermal patch. Social history is remarkable for camping trips and working with livestock through a school organization. Family history is notable for mild asthma in the mother and peanut allergy in a brother.In the emergency department, the patient’s vital signs are tachycardia to 110 beats per minute, respiratory rate 20 breaths per minute, blood pressure 132/88 mm Hg, temperature 37.1 °C, and oxygen saturation 94% on room air. Body mass index is 17.5 kg/m2 (11th percentile). On physical examination, the patient is in no distress, is breathing comfortably, and answers questions in clear, complete sentences. Breath sounds are clear and equal, with normal symmetric chest excursion, and there is no digital clubbing. Capillary refill is brisk throughout and pulses are regular and 2+ in all extremities. The cardiac examination is notable for a hyperdynamic precordium on palpation, split S1, loud S2, and no murmurs. No anatomic abnormalities such as obesity, scoliosis, or pectus excavatum are noted. Abdomen is soft and the liver edge can be felt approximately 1 to 2 cm below the right costal margin. However, the liver was not percussed to determine its span on physical examination. There is no splenomegaly. Lower extremities are mildly edematous but not pitting. Tympanic membranes are clear and without erythema. The tonsils are 1+ and there is no cervical lymphadenopathy. Screening bloodwork of a complete blood count, basic metabolic panel, and hepatic panel are completed, all of which are normal:Due to her chronic respiratory symptoms, a chest radiograph is done, which leads to the diagnosis.This patient presents with chronic, progressive dyspnea with activities as well as weight loss.Although an acute cause of dyspnea is less likely given the long-term nature of the patient’s symptoms, pulmonary embolism should be considered because of the history of hormone exposure from a transdermal norelgestromin/ethinyl estradiol patch and the acute chest pain during the episode with mild hypoxemia.1 Panic attacks can be a cause of acute recurrent dyspnea. It is important to note that although anxiety is often present with chronic symptoms of prolonged illness, it may be secondary to the chronic nature of the disease rather than the cause of the symptoms.2 Therefore, a careful history is crucial to identify any potential underlying or contributory mental health pathology.The differential diagnosis for chronic progressive dyspnea includes cardiorespiratory pathology, such as obstructive lung disease, restrictive lung disease, anatomic abnormalities in lung or heart structure, or occult dysrhythmias.3 Respiratory evaluation should be undertaken for breathlessness or difficulty breathing, chest pain, exercise symptoms, and/or chronic cough, including chest radiography and pulmonary function testing (depending on age, typically >8 years old). For symptoms of chest pain, syncope, or witnessed cyanosis, electrocardiogram and echocardiography should be considered to assess underlying cardiac pathology.Examples of pediatric obstructive lung disease include asthma and cystic fibrosis. Although the girl in this case has a diagnosis of asthma, her symptoms are not consistent with worsening asthma disease because the symptoms are occurring with mild activity and do not improve with escalation of asthma therapy and baseline spirometry is normal. Cystic fibrosis is unlikely because she had a normal newborn screen at birth and does not have chronic sinus respiratory (cough, often worse at night, rhinorrhea or nasal congestion, persistent mucus secretions, anosmia, or bad breath) or gastrointestinal (steatorrhea, constipation, meconium ileus, poor growth) symptoms that would be expected with this disease.4,5 Restrictive lung disease includes interstitial lung disease (ILD) with/without autoimmune disease, chest wall abnormalities, or impaired lung mechanics.3,6,7 ILD is important to consider as its onset may be insidious and progress to symptoms at rest. An autoimmune disease causing ILD is less likely because of the lack of associated constitutional and rheumatologic symptoms such as fevers, night sweats, arthritis, and/or rashes.7 Findings on examination associated with ILD include digital clubbing, decreased oxygen saturation by pulse oximetry, dyspnea, respiratory crackles, or decreased breath sounds—findings that are not present in this patient.8 Lung function testing and imaging with computed tomography of the chest are important to evaluate for ILD. The child in this case vignette has had normal baseline spirometry in the past. Given the patient’s normal thoracic examination, diaphragmatic excursion, and no history of prior thoracic surgeries or trauma, anatomic causes of restrictive lung disease are less likely.Although unusual, undiagnosed congenital heart disease may present later in life.9 Associated signs and symptoms typically include decreased oxygenation saturation by pulse oximetry, frank cyanosis, chest pain, digital clubbing, and chronic failure to thrive.10 Dysrhythmias may present at any age with breathlessness, palpitations, tachycardia, and lightheadedness.10,11Chest radiography (Figure 1) obtained in the emergency department reveals cardiomegaly and a prominent pulmonary artery shadow, with perihilar fullness and relatively dark peripheral lung fields. This prompts a bedside electrocardiogram, which suggests severe right ventricular hypertrophy (Figure 2). At this point, pulmonary hypertension is strongly suspected and an echocardiogram is performed. Echocardiogram demonstrates elevated estimated right ventricular pressure and severe right ventricular hypertrophy with moderate to severe right ventricular dysfunction, consistent with a diagnosis of pulmonary hypertension. Due to the diagnosis of pulmonary hypertension with syncope as well as tachycardia concerning for heart failure, the child is admitted to the intensive care unit for monitoring, further evaluation, and treatment.The patient undergoes right heart catheterization during the admission, which confirms the diagnosis of pulmonary arterial hypertension as evidenced by elevated mean pulmonary artery pressure of 60 mm Hg (normal