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A 7-year-old male presents to the emergency department with another pre-syncopal event. He had been on the anti-epileptic medication levetiracetam due to two episodes of loss of consciousness over the past month. He describes a prodrome of pallor, diaphoresis, and lightheadedness, and has developed new-onset fatigue and exercise intolerance, enabling him to bike for only about 5-10 minutes. He denies chest pain, palpitations, or edema.
There is a family history of systemic hypertension and dilated cardiomyopathy, but no congenital heart disease or sudden death in childhood.
On physical exam, note is made of a physiologically split S2 with a prominent pulmonary component (P2) and a grade III/IV short, diastolic, high-pitched murmur (Graham Steell murmur) along the left upper sternal border. An electrocardiogram (ECG) (Figure 1), chest X-ray, and transthoracic echocardiogram are obtained.
Figure 1: Electrocardiogram
Figure 2: Chest X-Ray
Figure 3: Transthoracic Echocardiogram Doppler Across the Pulmonary Valve in the Parasternal Short-Axis View
Video 1: Transthoracic Echocardiogram: Parasternal Long-Axis
Video 2: Transthoracic Echocardiogram: Parasternal Short-Axis
Which of the following is the patient's most likely diagnosis?
Show Answer
The correct answer is: B. Idiopathic pulmonary hypertension.
The physical exam findings of a prominent P2 and the Graham Steell murmur (due to pulmonary regurgitation associated with pulmonary hypertension) suggest the diagnosis of pulmonary hypertension. The ECG (Figure 1) shows first-degree atrioventricular block, right atrial enlargement, and right ventricular hypertrophy with strain pattern. The chest X-ray (Figure 2) is notable for a prominent main pulmonary artery. The parasternal long-axis echocardiogram clip (Video 1) shows a severely dilated right ventricle with moderately depressed systolic function. The main pulmonary artery and branch pulmonary arteries are severely dilated with moderate pulmonary regurgitation, and a small left atrial cavity. The parastenal short-axis view at the level of the papillary muscles (Video 2) shows a compressed left ventricle with qualitatively normal function. There was no tricuspid regurgitation but the pulmonary regurgitation end-diastolic velocity estimated a pulmonary artery diastolic pressure of 33 mm Hg + central venous pressure (Figure 3). The inferior vena cava was not dilated.
By convention, pulmonary hypertension is diagnosed when the mean pulmonary pressure is greater than 25 mm Hg. Updates and guidelines in the diagnosis and treatment of pediatric pulmonary hypertension were recently updated. In children, the majority of cases are idiopathic, heritable, or associated with congenital heart disease. Idiopathic pulmonary hypertension is usually diagnosed late due to its non-specific symptoms. Children suspected to have pulmonary hypertension with concerning echocardiographic findings should be referred for cardiac catheterization to assess hemodynamics, especially pulmonary vascular resistance, to help determine severity and prognosis. Vasodilator response to nitric oxide may help guide future therapy. For example, children with normal right ventricle function and a positive acute vasodilator response to inhaled nitric oxide may be initiated on oral calcium channel blockers. While appropriate therapies can be difficult to select due to the complex etiology of the disease and relative lack of data in children, oral medications commonly used include phosphodiesterase-5 inhibitors such as sildenafil and endothelin receptor antagonists such as bosentan. In severe and high risk cases, continuous prostanoid infusion is used. Additional interventions include balloon atrial septostomy and therapeutic Pott's shunt in severe cases to decompress the right ventricle. Lung transplantation is an option when maximal medical therapy fails.
References
Ivy DD, Abman SH, Barst RJ, et al. Pediatric Pulmonary Hypertension. J Am Coll Cardiol 2013:62(25 Suppl):D117-26.
Hoeper MM, Bogaard HJ, Condliffe R, et al. Definitions and diagnosis of pulmonary hypertension. J Am Coll Cardiol 2013:62(25 Suppl):D42-50.
Benedict N, Seybert A, Mathier MA. Evidence-Based Pharmacologic Management of Pulmonary Arterial Hypertension. Clin Ther 2007:29:2134-53.
Simonneau G, Gatzoulis M, Adatia I, et al. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol 2013;62:D34–4.
Baruteau AE, Belli E, Boudjemline Y, et al. Palliative Potts shunt for the treatment of children with drug-refractory pulmonary arterial hypertension: updated data from the first 24 patients. Eur J Cardiothorac Surg 2015;47:e105-10.
Abman SH, Hansmann G, Archer SL, et al. Pediatric pulmonary hypertension: guidelines from the American Heart Association and American Thoracic Society. Circulation 2015;132:2037-99.
Galiè N, Humbert M, Vachiery JL, et al. 2015 ESC/ERS guidelines for the diagnosis and treatment of pulmonary hypertension. The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT). Eur Heart J 2016;37:67-119.
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