Recurrent Pulmonary Embolism Associated with a New Mutation Site of SLC44A2: A Case Report.
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SUBMITTER: Yang F
PROVIDER: S-EPMC9361134 | biostudies-literature | 2022 Jul
REPOSITORIES: biostudies-literature
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Recurrent Pulmonary Embolism Associated with a New Mutation Site of SLC44A2: A Case Report.
Anatolian journal of cardiology 20220701 7
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Project description:BackgroundPaget-Schroetter syndrome (PSS) is an unusual cause of venous thromboembolism, which is frequently misdiagnosed and undiagnosed in clinical settings. Although axillary-subclavian vein thrombosis is related with PSS typically presents in healthy young athletes, it is possible for this phenomenon to occur in various age settings.Case summaryWe present a case of recurrent pulmonary embolism caused by a thrombus in dilated axillary vein related with PSS. A 74-year-old man was referred to our cardiology department for chest discomfort and hypoxaemia. The contrast computed tomography (CT) revealed that he suffered from bilateral pulmonary embolism. However, we could not find the source of embolism despite other examinations such as ultrasonography of the inferior limb deep vein. Three months later, the patient complained of dyspnoea for a second time, and a contrast CT scan was subsequently performed revealing a new pulmonary embolism. Surgical resection of the giant thrombus was performed, resulting in a good clinical course without recurrence.DiscussionWe experienced a case of recurring pulmonary embolism in a patient with undiagnosed PSS, which was related to the active and vigorous movement of the right arm during his working. Although there are various treatments for PSS including anticoagulation, first rib resection, and lifestyle modification, we need to consider what is the best treatment individually.
| S-EPMC6764562 | biostudies-literature
Project description:RationaleProtein S (PS) deficiency that can be inherited or acquired is an independent risk factor for venous thromboembolism (VTE).Patient concernsIn this report, we present a case of recurrent pulmonary embolism (PE) and deep venous thrombosis (DVT) due to PS deficiency.DiagnosesA 32-year-old male patient with significant decrease in PS activity was detected by laboratory tests. Genetic examination of the PROS1 gene showed a transition of G to T in exon 14 (c.1792 G>T, p.E598X), which was a paternal inherited heterozygous G1792T substitution in the laminin G-type repeat domain, generating a premature stop codon at Glu598.InterventionsWe considered that the inherited PS deficiency due to a PROS1 gene mutation may associate with recurrent VTE. The patient was suggested to have an extended anticoagulant therapy to avoid a severe VTE event.OutcomesThe patient was discharged home with continued oral anticoagulants and was still seen in clinic for follow-up.LessonsIt is necessary for the young patient with recurrent idiopathic thrombosis to perform an inherited PS deficiency test and receive anticoagulant therapy for an extended period.
| S-EPMC5959418 | biostudies-literature
Project description:IntroductionCentral venous catheters related thrombosis (CRT) insertion has been shown to increase the risk of venous thromboembolism, particularly pulmonary embolism (PE). Nevertheless, deaths cased due to PE have been rarely reported.Patient concernsA central venous catheter was introduced through the right jugular vein during the operation due to severe septic shock from a 57-year-old male patient. Two days after surgery, the hemodynamics was stable. On the 7th day, and low molecular weight heparin calcium (4100 units, once a day) was added for anticoagulation to prevent venous thromboembolism. On the 15th day, during the process of central venous catheter removal, the patient suddenly lost consciousness, suffered cardiac arrest, and received emergency cardiopulmonary resuscitation.DiagnosisJugular venous catheter-associated thrombosis and fatal PE. An acute bedside ultrasound showed a thrombus drifting with the blood stream in the right jugular vein. The lower section of the xiphoid process by echocardiography showed decreased systolic amplitude of the right atrium and right ventricle, widened and fixed inferior vena cava, and no variation with respiration. Para-sternal left ventricular long axis section showed that the right ventricular outflow tract was significantly extended, and the contraction amplitude of the anterior and posterior walls of the left ventricle decreased. Left ventricular short axis section indicated a right ventricle enlargement and ventricular septum deviation of left ventricle, showing "D" sign. Apical 4-chamber view showed that the right ventricular ratio increased and the contractile capacity decreased.InterventionsOne and a half million units of urokinase were immediately given trough intravenous drip.OutcomesTwenty minutes after thrombolysis, the patient's autonomic heart rhythm was recovered, but continued to suffer from hypotension and coma, followed by multiple organ failure, and died 50 hours later.ConclusionRecent clinical practice guidelines recommend against the routine use of any anticoagulant thromboprophylaxis in patients with central venous catheters, but for patients at particularly high risk for CRT, consideration can be given to using higher doses of anticoagulant as prophylaxis, although there are virtually no data to support this approach.
| S-EPMC7328945 | biostudies-literature
Project description:RationaleThe differential diagnosis of acute chest pain is very important, and can sometimes be challenging. Related diseases share a number of risk factors, and occasionally, 1 condition causes another disease to develop.Patient concernsWe described a 59-year-old man who presented to emergency department complaining of chest pain.DiagnosesHe was suffered acute myocardial infarction (MI) and pulmonary embolism (PE) simultaneously.InterventionsDual antiplatelet therapy, statin, and low molecular weight heparin were administrated during his stay. The searches for cancers, autoimmune diseases, and hematologic diseases were unremarkable, ruling out a hypercoagulable state. Subsequent ultrasound scan revealed a thrombus in a vein of the lower left extremity. Thus, paradoxical embolism was highly suspected.OutcomesParadoxical embolism is a rare cause of acute MI, which may have occurred in our patient. This was evidenced by a previously unrecognized patent foramen ovale (PFO) with a right-to-left atrial shunt detected using contrast transesophageal echocardiography.LessonsAcute MI complicated with PE is not common in the clinical setting. The fatal condition is difficult to diagnose because of the similar symptoms and confusing causes. Paradoxical embolism can cause this phenomenon, and physicians should be highly vigilant in the search for a PFO in cases of paradoxical embolism.
| S-EPMC6392996 | biostudies-literature
Project description: Not available
| S-EPMC7846481 | biostudies-literature
Project description: Not available
| S-EPMC11210163 | biostudies-literature
Project description:BACKGROUND:Pediatric recurrent acute liver failure (RALF) with recovery between episodes is rare. Causes include autoimmune disease, which may flare and subside; intermittent exposure to toxins, as with ingestions; and metabolic disorders, among them the fever-associated crises ascribed to biallelic mutations in SCYL1, with RALF beginning in infancy. SCYL1 disease manifest with RALF, as known to date, includes central and peripheral neurologic and muscular morbidity (hepatocerebellar neuropathy syndrome). Primary ventilatory and skeletal diseases also have been noted in some reports. CASE SUMMARY:We describe a Han Chinese boy in whom fever-associated RALF began at age 14 mo. Bilateral femoral head abnormalities and mild impairment of neurologic function were first noted aged 8 years 6 mo. Liver biopsy after the third RALF episode (7 years) and during resolution of the fourth RALF episode (8 years 6 mo) found abnormal architecture and hepatic fibrosis, respectively. Whole-exome sequencing revealed homozygosity for the novel frameshift mutation c.92_93insGGGCCCT, p.(H32Gfs*20) in SCYL1 (parental heterozygosity confirmed). CONCLUSION:Our findings expand the mutational and clinical spectrum of SCYL1 disease. In our patient a substantial neurologic component was lacking and skeletal disease was identified relatively late.
| S-EPMC6397814 | biostudies-literature
Project description:BackgroundSince the onset of the COVID-19 pandemic, several cardiovascular manifestations have been described. Among them, venous thromboembolism (VTE) seems to be one of the most frequent, particularly in intensive care unit patients. We report two cases of COVID-19 patients developing acute pulmonary embolism (PE) after discharge from a first hospitalization for pneumonia of moderate severity.Case summaryTwo patients with positive RT-PCR test were initially hospitalized for non-severe COVID-19. Both received standard thromboprophylaxis during the index hospitalization and had no strong predisposing risk factors for VTE. Few days after discharge, they were both readmitted for worsening dyspnoea due to PE. One patient was positive for lupus anticoagulant.DiscussionWorsening respiratory status in COVID-19 patients must encourage physicians to search for PE since SARS-CoV-2 infection may act as a precipitant risk factor for VTE. Patients may thus require more aggressive and longer thromboprophylaxis after COVID-19 related hospitalization.
| S-EPMC7793223 | biostudies-literature
Project description:BackgroundSo far, there have been more than 761 million confirmed cases of SARS-CoV-2 worldwide, with more than 6.8 million deaths. The most common direct causes of death for COVID-19 are diffuse alveolar injury and acute respiratory distress syndrome. Autopsy results have shown that 80-100% of COVID-19 patients have microthrombi which is 9 times higher than in patients with influenza. There are reported cases of fat embolism associated with Covid-19, but relevant epidemiological investigations and fatal cases of pulmonary fat embolism are lacking. In this report, we describe the first COVID-19 patient to die from pulmonary fat embolism.Case presentationA 54-year-old woman suddenly felt unwell while at work. She had difficulty breathing for 40 min and lost consciousness for 20 min before being taken to the hospital. On admission, her temperature was 36 ℃, but her respiration, heart rate, and blood pressure were undetectable. Laboratory examination revealed C-reactive protein, 26.55 mg/L; D-dimer, 11,400 µg/L; and procalcitonin, 0.21 ng/mL. She was declared clinically dead 2 h after admission due to ineffective rescue efforts. At autopsy, both lungs were highly oedematous with partial alveolar haemorrhage. The presence of microthrombi and pulmonary fat embolism in small interstitial pulmonary vessels was confirmed by phosphotungstic acid haematoxylin staining and oil red O staining. The immunohistochemical results of spike protein and nucleocapsid protein in laryngeal epithelial cells confirmed SARS-CoV-2 infection.ConclusionsPulmonary fat embolism may be another fatal complication of COVID-19 infection, and clinicians should pay more attention to it.
| S-EPMC10478277 | biostudies-literature
Project description:IntroductionMassive pulmonary embolus (PE) is associated with a high mortality if not treated aggressively. Treatment classically includes thrombolysis, catheter embolectomy, or open surgical embolectomy. This is the case report of a 38-year-old female presenting with massive PE three weeks status post gastric sleeve resection.Presentation of case38-year-old female status post gastric sleeve resection presented to the emergency department with acute onset shortness of breath and dizziness. Computed Tomography (CT) chest angiography showed extensive PE with pulmonary artery saddle embolus, and an enlarged right ventricle suggesting strain. Her treatment consisted of anticoagulation, AngioVac suction embolectomy, EKOS catheter thrombolysis, fragmentation with catheter, extracorporeal membrane oxygenation (ECMO), and lastly surgical embolectomy due to refractory clinical course.DiscussionThis case report details the natural history of a complex massive pulmonary embolism presentation requiring multiple catheter-based measures, ECMO initiation, and subsequent surgical embolectomy.ConclusionThis case report should serve as encouragement for early adoption of surgical therapy in pulmonary embolism cases where patients present with a complex presentation.
| S-EPMC6411490 | biostudies-literature