European Journal of Cardiovascular Medicine

Pulmonary arterial hypertension (PAH) is a rare condition that typically arises between the ages of 30 and 60(1). Younger man appears to be more commonly affected. Epidemiological data varies by region, the registry used, and the time frame studied, with estimates ranging from 15 to 60 cases per million people ⁽²⁾. Survival statistics also differ but generally indicate a nearly 40% mortality rate within five years (3). The earliest symptoms, which include dyspnea, dizziness or fainting, weakness, and fatigue, are often triggered by exertion. The late onset of symptoms and vague initial presentation can result in delayed diagnosis, which adversely affects patient outcomes (4).

Timeline

We report on a 37-year-old male patient who referred from peripheral hospital with a complains of   Breathlessness, Restlessness, anxiety, Abdominal distention on and off for the past year, with an increase in the past 1 month. Patients was admitted to the hospital with a provisional diagnosis of PAH, Ascites and Plural effusion for further evaluation and management.

Patient had history of kyphoscoliosis since birth, no history of DM, HTN Asthma and no significant family history.

The general examination reveals that the patient's overall condition is poor, with consciousness intact but the presence of cyanosis, pallor, icterus, and edema. Vital signs indicate a pulse of 106 beats per minute, blood pressure of 130/76 mmHg, a respiratory rate of 36 breaths per minute, afebrile temperature, and an oxygen saturation of 68% on room air. The systemic examination shows that the central nervous system is conscious, the cardiovascular system exhibits normal heart sounds (S1 and S2) without abnormalities, and upon abdominal examination, the abdomen is distended with the umbilicus centrally placed and inverted. There are no scar marks, pigmentation, or dilated veins, no local temperature rise, guarding, or rigidity, while the abdomen feels soft with a fluid thrill present, and bowel sounds are audible.

Imaging studies conducted included a sonography of the abdomen and pelvis (figure 1), which revealed mild hepatomegaly with grade-I fatty changes in the liver. An HRCT scan (figure 2) of the thorax showed thin parenchymal fibrotic bands extending to the visceral pleura in both upper and lower lobes, suggesting post-atelectatic changes, along with bilateral dilation of the pulmonary arterial tree, with the main pulmonary trunk measuring approximately 42 mm, indicative of pulmonary arterial hypertension. The scan also noted an enlarged cardiac silhouette without pericardial effusion and identified a scoliotic deformity of the dorsal spine with rightward concavity, along with multiple right-sided ribs exhibiting partial fusion, hypoplasia, and congenital absence, consistent with a congenital chest wall deformity. A subsequent HRCT thorax revealed multilevel complex fusion of the lower cervical and upper thoracic vertebrae, leading to complex scoliosis with rightward convexity, crowding of ribs in the right upper and mid zones, and a compressive deformity of the chest wall, along with a high-positioned right shoulder and no evidence of Omo vertebral bone, suggesting possible Klippel-Feil syndrome. A CT scan of the abdomen and pelvis on the same date indicated no significant abnormalities. The MTB test conducted showed that Mycobacterium tuberculosis was not detected, while the MIC test after 2 days of previous test identified Pseudomonas aeruginosa as the pathogen.

Table 1. Complete blood count on admission day of the patient.

Figure 1 USG abdomen showing mild hepatomegaly with grade I fatty changes.

Figure 2. HRCT showing thin parenchymal fibrotic bands extending to the visceral pleura in both upper and lower lobes, suggesting post-atelectatic changes, along with bilateral dilation of the pulmonary arterial tree, with the main pulmonary trunk measuring approximately 42 mm, indicative of pulmonary arterial hypertension

Pulmonary Artery Hypertension is a rare, progressive condition characterized by elevated blood pressure in the pulmonary arteries. It often presents with symptoms such as dyspnea, fatigue, and chest pain, typically worsening with exertion. Diagnosis is confirmed through echocardiography or right heart catheterization, showing elevated pulmonary artery pressure. Imaging studies may reveal dilated pulmonary arteries and right ventricular hypertrophy.  The patient’s condition, we observe a multifaceted presentation involving pulmonary, cardiovascular, and abdominal symptoms. The provisional diagnosis of pulmonary arterial hypertension is reinforced by imaging studies that reveal dilated pulmonary arteries and an enlarged cardiac silhouette. Additionally, the presence of kyphoscoliosis, along with associated chest wall deformities, likely exacerbates the patient's respiratory difficulties. Furthermore, imaging has indicated mild hepatic involvement with fatty liver changes, which may also be relevant to the overall clinical picture. Notably, the identification of Pseudomonas aeruginosa in the microbiological analysis suggests a potential infection or complicating factor that warrants further investigation and management. This combination of findings emphasizes the complexity of the patient’s condition and the need for a comprehensive treatment approach.

In conclusion, pulmonary arterial hypertension (PAH) is a serious and often underdiagnosed condition that requires timely recognition and intervention. This case underscores the importance of a comprehensive evaluation, including imaging and hemodynamic assessments, to establish an accurate diagnosis. The multifactorial nature of PAH highlights the need for a multidisciplinary approach to management, incorporating pharmacological treatments and supportive care to improve patient outcomes. Early diagnosis and individualized treatment strategies are crucial in mitigating the progression of the disease and enhancing the quality of life for affected patients. Continued research and awareness are essential to improve understanding and management of this challenging condition.

1. Beshay S, Sahay S, Humbert M. Evaluation and management of pulmonary arterial hypertension. Respir Med. 2020;171:106099. doi: 10.1016/j.rmed.2020.106099
2. Westphal JG, Oehler M, Schulze PC, Kretzschmar D. A case report of a 37-year-old woman with pulmonary arterial hypertension first presented during her 3rd pregnancy and favourable long-term vasoreactive response. Eur Heart J Case Rep. 2022 Feb 7;6(2):ytac031. doi: 10.1093/ehjcr/ytac031. PMID: 35233488; PMCID: PMC8874844.
3. Simonneau G, Gatzoulis MA, Adatia I, et al. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol. 2013;62(25 suppl):D34-D41. doi: 10.1016/j.jacc.2013.10.029
4. McGoon MD, Benza RL, Escribano-Subias P, Jiang X, Miller DP, Peacock AJ, Pepke-Zaba J, Pulido T, Rich S, Rosenkranz S, Suissa S, Humbert M. Pulmonary arterial hypertension: epidemiology and registries. J Am Coll Cardiol. 2013 Dec 24;62(25 Suppl):D51-9. doi: 10.1016/j.jacc.2013.10.023. PMID: 24355642.