Abstract
Introduction
Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare and underdiagnosed condition, often presenting with variable symptoms, making it challenging to identify. This case report highlights the clinical relevance of CTEPH, emphasizing its misdiagnosis as asthma and the need for increased awareness in recognizing its atypical presentations.
Objective
To present a case of CTEPH misdiagnosed as asthma, showcasing the importance of early identification and raising awareness about the underrepresentation of this disease.
Case report
A 39-year-old male with a history of misdiagnosed asthma presented with progressive dyspnea. Despite treatment with inhalers, symptoms persisted. Further investigations revealed dilated pulmonary arteries, right ventricular dysfunction, and elevated pulmonary pressures. Subsequent examinations confirmed CTEPH, leading to referral for surgical thromboembolectomy. Postoperative assessments demonstrated significant improvements in hemodynamic parameters.
Discussionconclusion
This case underscores the challenges in diagnosing CTEPH, especially when presenting as asthma. Heightened awareness among healthcare professionals is crucial for timely recognition, considering the potential for favorable outcomes with appropriate intervention. Recognition of CTEPH as a differential diagnosis for dyspnea, particularly in those with a history of pulmonary embolism, is essential for providing accurate diagnosis and timely intervention.
1. Introduction
Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare disease in which the true incidence is not fully understood [1]. This case report follows a patient with CTEPH misdiagnosed for years as asthma. Greater awareness of this disease presentation and progression can help elucidate the incidence rate of this disease.
2. Objective
To present a case of CTEPH that was misdiagnosed as asthma and increase awareness of the underrepresentation of this disease.
3. Case report
A 39-year-old male presented to the clinic with a chief complaint of progressive shortness of breath. He was seen by a pulmonologist 3–4 years prior and was diagnosed with asthma and prescribed a series of inhalers with no subsequent improvement in symptoms. Of note, the patient's history was significant for pulmonary hypertension. In May of 2021 a computed tomography (CT) scan of his chest revealed a dilated pulmonary artery and enlargement of the pulmonary trunk to 4 cm. In June of 2021, an echocardiogram revealed an ejection fraction of 55–60 %, a dilated and hypokinetic right ventricle, a dilated right atrium, mild tricuspid regurgitation, no mitral regurgitation, elevated right ventricular systolic pressure of 91 mmHg, and no obvious interatrial communication via color flow Doppler analysis.
On interview, the patient presented with a chief complaint of exertional and occasionally conversational dyspnea, which was lifestyle limiting. The patient also reported a chronic cough and right lower extremity varicosities that were absent on his left lower extremity. At presentation, the patient's body mass index was 45.78 kg/m2, heart rate was 92 beats/minute, and blood pressure was 132/90 mmHg. Remarkable findings included elevated jugular venous pressure with a prominent V wave noted. He had a grade I-II/VI holosystolic murmur at the left lower sternal border. Lungs were clear to auscultation. Prominent right lower extremity varicosities with minimal edema.
The patient subsequently underwent a right lower extremity venous Doppler study, an echocardiogram, and a ventilation/perfusion exam. The venous Doppler was negative for deep vein thrombosis; however, it did show a non-occlusive superficial thrombus within the mid-femoral region of the greater saphenous vein. Echocardiography revealed normal LV function. The RV was dilated and hypokinetic. The estimated right ventricular systolic pressure was 91 mmHg. No obvious right to left intracardiac shunting via saline bubble study. Ventilation/perfusion scintigraphy estimated an intermediate probability for a pulmonary embolism (PE) with features concerning for chronic PE (Fig. 1). At this time, he was diagnosed with CTEPH. He was referred to UC Health San Diego for further evaluation and to assess candidacy for surgical thromboembolectomy.
Fig. 1.
Perfusion scans taken from pre (A) and post (B) -operative ventilation/perfusion scintigraphy, with notable improvement in perfusion post-thromboembolectomy.
Upon arrival at UC San Diego, a right heart catheterization confirmed severe pulmonary hypertension with pulmonary arterial pressure of 96/37. The patient was classified with Jamieson type 2 of the right pulmonary artery and a type 1 of the left pulmonary artery. The patient underwent an eight-hour procedure in which thrombotic material was removed from both right and left pulmonary arteries. Subsequent hemodynamic measurements showed a drop in pulmonary arterial pressures (Table 1).
Table 1.
Right heart catheterization values both pre-and-post thromboembolectomy, showing improvement in cardiac output, peripheral vascular resistance, right atrial pressure, and pulmonary artery pressure.
| Pulmonary Artery Pressure | Right Atrial Pressure | CO/Cl by Thermodilution | Peripheral Vascular Resistance | |
|---|---|---|---|---|
| Before Thromboembolectomy | 96/37 mmHg | 19 mmHg | 4.87 L/min or 1.79 L/min-m2 | 690 dyne-second/cm5 |
| After Thromboembolectomy | 32/10 mmHg | 6 mmHg | 7.8 L/min or 2.9 L/min-m2 | 180 dyne-second/cm5 |
On follow-up, the patient reported less dyspnea and had started pulmonary rehab. He reported 30 minutes of exercise 2–3 days per week and a return to 70 % of baseline symptoms.
4. Discussion
CTEPH is a pulmonary vascular disease that typically follows acute pulmonary embolism (PE) [2]. Its clinical manifestations are variable; however, as CTEPH progresses, dyspnea, hypoxemia, and right ventricular dysfunction often emerge. Routine screening for CTEPH following an event of a PE has not been shown to improve diagnostics beyond primary care follow up [3]. In addition, 25 % of patients with CTEPH have no history of prior PE [4]. Physicians should recognize CTEPH as a potential cause of dyspnea, especially those with a history of PE, in order to provide individuals a more definitive diagnosis and treatment.
CRediT authorship contribution statement
Christopher B. Arant: Conceptualization, Writing – original draft, Writing – review & editing. Carver N. Arant: Writing – original draft, Writing – review & editing. Davis E. Bobbitt: Writing – original draft, Writing – review & editing.
Declaration of competing interest
None.
Handling Editor: DR AC Amit Chopra
References
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