An unexpected cause of pulmonary hypertension in a young woman: a case report
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PROVIDER: S-EPMC10577277 | biostudies-literature | 2023 Sep
REPOSITORIES: biostudies-literature
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Project description:BackgroundSystemic lupus erythematosus (SLE) is an autoimmune disease, frequently associated with cardiovascular involvement. One of the most frequent complication is mitral valve regurgitation in more than one-third of the patients.Case summaryA 30-year-old woman with arthralgia, butterfly rash, and Raynaud phenomenon presented with a systolic murmur and renal impairment. Based on the kidney biopsy the diagnosis of SLE was made. Echocardiography revealed the presence of pulmonary hypertension, restrictive mitral valve disease with nodular thickening of the anterior leaflet and moderate regurgitation, compatible with Libman Sacks (LS) endocarditis. Immunosuppressive therapy was started and the patient status improved with normalization of systolic pulmonary artery pressure. After 8 years without follow-up, she presented with fatigue and dyspnoea based on a severe mitral valve stenosis. Subsequently, she underwent a minimal invasive mitral valve replacement and the diagnosis of LS endocarditis could be confirmed upon histopathological examination.DiscussionThis case demonstrates that LS endocarditis can not only lead to mitral regurgitation but occasionally to mitral stenosis due to chronic inflammation with thickening and fusion of mitral valve leaflets. Hereby, comprehensive echocardiography, inclusive stress echocardiography, plays a critical role.
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Project description:Arteriovenous fistula is a rare complication of lumbar surgery that may cause high-output cardiac failure. We describe the case of a patient with treated lymphoma and recent spinal surgery who presented with heart failure. Logical deduction from clinical and imaging findings helped us arrive at this unusual diagnosis. (Level of Difficulty: Intermediate.).
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Project description:BackgroundWhile transient loss of consciousness is a frequent presenting symptom, differential diagnosis between syncope and epilepsy can be challenging. Misdiagnosis of epilepsy leads to important psychosocial consequences and eliminates the opportunity to treat patient's true condition.Case summaryA 39-year-old woman presenting with recurrent seizures since her childhood was referred to neurological consultation. Electroencephalograms (EEGs) and magnetic resonance imaging previously performed were normal. A sleep-deprived video-EEG was performed and highlighted after 12 h of sleep deprivation a progressive dropping of the heart rate followed by a complete heart block without ventricular escape rhythm and asystole for about 30 s. Her EEG recording later showed diffuse slow waves traducing a global cerebral dysfunction and suffering. The diagnosis of vaso-vagal syncope with predominant cardioinhibitory response was made and a dual-chamber pacemaker with rate-drop response algorithm was implanted. After a 2 years of follow-up, the patient remained free of syncope.DiscussionPatients presenting with loss of consciousness and convulsion are often diagnosed with epilepsy despite normal EEGs. In patients presenting with recurrent seizures with unclear diagnosis of epilepsy or in a situation of drug-resistant epilepsy, syncope diagnosis should always be considered and a risk stratification is necessary. The benefit of pacemaker implantation in patients with recurrent vaso-vagal syncope is still very controversial. Only patients presenting with spontaneous asystole should be considered for pacemaker implantation in case of recurrent vaso-vagal syncope.
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Project description:BackgroundIntravascular large B-cell lymphoma (IVLBCL) is a rare disease characterized by proliferation of malignant lymphoid cells within the small vessels of various organs resulting in diffuse thrombosis. It most commonly affects the central nervous system and the skin, but if it involves the pulmonary arteries it can cause acute severe pulmonary hypertension (PH) and right heart failure. Early diagnosis is essential as the clinical course is extremely aggressive. In this report, we present a case of rapidly progressive PH and subsequent right ventricular (RV) failure secondary to IVLBCL. We review the important differential diagnoses and diagnostic evaluation needed to make a correct and early diagnosis.Case summaryA 53-year-old, previously healthy man developed 2 months of progressive shortness of breath. After being treated for presumptive pneumonia, he was admitted with hypoxic respiratory failure, altered mental status, and severe PH. He developed RV failure and subsequent liver failure. He was ruled out for pulmonary embolism. Despite aggressive management with inhaled nitric oxide and epoprostenol, inotropes, and continuous renal replacement therapy, the patient passed away. Post-mortem examination revealed the presence of IVLBCL with extensive involvement notable of the brain, heart, lungs, and pulmonary arteries.DiscussionThe acute development of severe PH and RV failure in the absence of pulmonary emboli is uncommon and represents a challenging diagnostic and management clinical scenario. When accompanied by altered mental status, constitutional symptoms and an elevated lactate dehydrogenase, clinicians should have a high index of suspicion for intravascular lymphoma, as early diagnosis is critical to maintain a reasonable chance of survival.
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Project description:IntroductionPersistent pulmonary hypertension of the newborn (PPHN) is a life-threatening condition characterized by hypoxemia due to elevated pulmonary vascular resistance. PPHN commonly arises secondary to various underlying conditions, including infection, meconium aspiration, and respiratory distress syndrome. Management includes pulmonary vasodilators, mechanical ventilation, oxygen supplementation, vasopressors, and volume replacement. Stüve-Wiedemann syndrome (SWS), a rare genetic disorder characterized by bone dysplasia, respiratory distress, hyperthermia, and swallowing difficulties, may present with pulmonary hypertension, indicating a poor prognosis.Case descriptionA term female neonate presented with secondary respiratory failure and severe PPHN of unknown etiology on the second day of life, necessitating intubation. Clinical findings included facial dysmorphia, camptodactyly, skeletal anomalies, and generalized muscular hypotonia. High-frequency oscillation ventilation and surfactant administration yielded marginal improvement. On the third day of life, a severe pulmonary hypertensive crisis necessitated inhaled and systemic pulmonary vasodilators along with volume and catecholamine therapy. Whole exome sequencing revealed a homozygous mutation in the leukemia inhibitory factor receptor (LIFR) gene, consistent with Stüve-Wiedemann syndrome.Discussion/conclusionThe case underscores the importance of considering and prompting evaluation of rare genetic causes in the differential diagnosis of PPHN, especially when other abnormalities are present and conventional therapies prove inadequate. Therapeutic strategies must account for the different pathophysiology of primary PPHN including vascular remodeling, as seen in SWS, which may not respond to pulmonary vasodilators typically employed in secondary PPHN due to vasoconstriction. In this case, the patient responded well to treatment for primary PPHN, but the use of high-frequency oscillation ventilation and surfactant was not helpful.
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Project description: Not available
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Project description:BackgroundThe quadricuspid pulmonary valve (QPV) is a relatively rare heart congenital anomaly. It is usually asymptomatic and incidentally detected.Case summaryA 52-year-old woman presented with paroxysmal palpitations and chest tightness after exertion. After a series of examinations, we finally diagnosed her with QPV and pulmonary hypertension. The symptoms have improved significantly with medications, and subsequently, the patient was discharged.DiscussionThis case demonstrated the crucial role of multimodality imaging in evaluating the non-invasive depiction of pulmonary valve disease.
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Project description:BackgroundA complication originating from the pacemaker pocket after device implantation can most often be explained by a post-operative pocket haematoma, or, less frequently, by a pocket infection. Both conditions need immediate assessment, dedicated treatment, and specialized follow-up. In rare cases, however, a swollen pacemaker pocket has an alternative diagnosis, which is exemplified by the following case.Case summaryA 70-year-old male patient had a-specific symptoms of fatigue, dyspnoea, and coughing for some weeks. He also noted an evident, new swelling of his pacemaker pocket several months after pacemaker implantation, a procedure that was performed in a high-volume center and without any complication. Ultrasound imaging of the pocket suggested the presence of a soft tissue mass with increased vascularity, rather than a fluid collection or a late organized haematoma. Ultrasound-guided biopsy of the mass was obtained for histopathology analysis and revealed a well-differentiated invasive squamous cell carcinoma. Additional PET-CT imaging demonstrated multiple fluorodeoxyglucose-avid hotspots: a voluminous lesion in the left lung hilum, smaller lesions in the liver, some mediastinal lymph nodes, several bone lesions, and a large mass surrounding the pacemaker. The multidisciplinary oncologic specialty team concluded that the patient had an aggressive metastatic lung carcinoma. The patient refused to undergo further treatment and died 1.5 months after diagnosis.DiscussionTo the best of our knowledge, we did not find any earlier reports of a squamous cell carcinoma of the lung spreading to a pacemaker pocket. Presentation of a primary tumour or a metastasis in a pacemaker pocket is extremely rare. Ultrasound imaging with ultrasound-guided biopsy is a fast and reliable method to sample the tissue and to obtain a reliable diagnosis.
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Project description:BackgroundSevere pulmonary arterial hypertension (PAH) is generally treated with multiple PAH-specific vasodilators. If these agents are unsuccessful, additional treatment options are scarce, and the prognosis is poor due to right-sided heart failure. Some of these severe cases are also accompanied by endocrinological side effects. The most common side effect of prostacyclin is thyroid dysfunction, but in very few cases, adrenocorticotropic hormone (ACTH) deficiency may occur.Case summaryA 35-year-old woman was diagnosed with hereditary PAH 2 years ago. Since her mean pulmonary arterial pressure was high, combination therapy of vasodilators, including prostacyclin, was introduced. Several months later, she was hospitalized with a persistent fever. Laboratory tests showed no findings suggestive of infection. However, hypereosinophilia and decreased secretion of ACTH and cortisol were noted, which led to the diagnosis of ACTH deficiency. A multimodal diagnostic approach, including pituitary magnetic resonance imaging and axillary lymph node biopsy, indicated that the aetiology of the ACTH deficiency was likely autoimmune hypophysitis. She was treated with hydrocortisone supplementation, which significantly relieved her condition.DiscussionEndocrinological side effects in PAH patients using prostacyclin should be carefully addressed. If right-sided heart failure worsens during the administration of prostacyclin, it is essential to determine whether it is due to progression of pulmonary hypertension or endocrinological side effects. Careful diagnosis and treatment are important for managing the haemodynamics and symptoms of PAH patients given prostacyclin.
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