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Massive pericardial effusion and cardiac tamponade revealed undiagnosed Turner syndrome: a case report.

ABSTRACT: BACKGROUND:Patients with Turner syndrome (TS) are prone to autoimmune disorders. Although most patients with TS are diagnosed at younger ages, delayed diagnosis is not rare. CASE PRESENTATION:A 31-year-old woman was presented with facial edema, chest tightness and dyspnea. She had primary amenorrhea. Physical examination revealed short stature, dry skin and coarse hair. Periorbital edema with puffy eyelids were also noticed with mild goiter. Bilateral cardiac enlargement, distant heart sounds and pulsus paradoxus, in combination with hepatomegaly and jugular venous distention were observed. Her hircus and pubic hair was absent. The development of her breast was at 1st tanner period and gynecological examination revealed infantile vulva. Echocardiography suggested massive pericardial effusion. She was diagnosed with cardiac tamponade based on low systolic pressure, decreased pulse pressure and pulsus paradoxus. Pericardiocentesis was performed. Thyroid function test and thyroid ultrasound indicated Hashimoto's thyroiditis and severe hypothyroidism. Sex hormone test revealed hypergonadotropin hypogonadism. Further karyotyping revealed a karyotype of 45, X [21]/46, X, i(X) (q10) [29] and she was diagnosed with mosaic?+?variant type of TS. L-T4 supplement, estrogen therapy, and antiosteoporosis treatment was initiated. Euthyroidism and complete resolution of the pericardial effusion was obtained within 2 months. CONCLUSION:Hypothyroidism should be considered in the patients with pericardial effusion. The association between autoimmune thyroid diseases and TS should be kept in mind. Both congenital and acquired cardiovascular diseases should be screened in patients with TS.

SUBMITTER: Qiang W

PROVIDER: S-EPMC7583196 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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Massive pericardial effusion and cardiac tamponade revealed undiagnosed Turner syndrome: a case report.

Qiang Wei W Sun Rongxin R Zheng Xiaopu X Du Yuan Y

BMC cardiovascular disorders 20201023 1

<h4>Background</h4>Patients with Turner syndrome (TS) are prone to autoimmune disorders. Although most patients with TS are diagnosed at younger ages, delayed diagnosis is not rare.<h4>Case presentation</h4>A 31-year-old woman was presented with facial edema, chest tightness and dyspnea. She had primary amenorrhea. Physical examination revealed short stature, dry skin and coarse hair. Periorbital edema with puffy eyelids were also noticed with mild goiter. Bilateral cardiac enlargement, distant ...[more]

PMID: 33096991

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Project description:BackgroundPericardiocentesis is an effective treatment for cardiac tamponade, but there are risks, including haemorrhagic events, cardiac perforation, pneumothorax, arrhythmia, acute pulmonary oedema and so on. Mediastinal effusion caused by puncture is rarely reported.Case presentationA 47-year-old man who had a history of right leg deep vein thrombosis and pulmonary artery embolism with implantation of an inferior vena cava filter presented for inferior vena cava filter removal. Within 30 min after the procedure, he developed chest pain, nausea, vomiting and presyncope with shock. Echocardiography confirmed massive pericardial effusion with evidence of cardiac tamponade. Emergency pericardiocentesis was performed. Confusingly, only 3 mL of bloody pericardial effusion was drained in total, and subsequently, the patient's symptoms rapidly improved with stable haemodynamics. Repeat echocardiography showed that the pericardial effusion had disappeared. Urgent computed tomography pulmonary angiography demonstrated localized effusion, which was not seen the previous computed tomography results and was noted around the left ventricle in the mediastinal apace. No intervention was performed, given that there was no bleeding tendency or further adverse events related to the mediastinal effusion. The patient was subsequently discharged in a stable condition a few days later, and outpatient follow-up was advised.ConclusionsMediastinal effusion is a rare complication of pericardiocentesis. In the case described herein, the most likely cause was pericardial effusion extravasated into the mediastinum through the needle insertion site in the puncture process due to large pressure variations in the intrapericardial space with tamponade, differing from cases of over-anticoagulation reported in the previous literature. Just as our case demonstrates that conservative treatment of an hemodynamic insignificant mediastinal effusion may be appropriate. Echocardiography is useful and effective to minimize complication rates.

Project description:Background: Primary cardiac angiosarcomas, especially those originating in the pericardium, are extremely rare and aggressive tumors with poor prognosis. These types of malignant tumors have diverse clinical presentations and are often masked by other comorbidities. Case Summary: Our hospital reported a 59-year-old woman who initially presented with pulmonary thromboembolism (PTE) and was subsequently treated with low-molecular-weight heparin. However, she experienced acute pericardial tamponade after anticoagulation therapy, where no obvious mass was primarily identified upon imaging, both in the pericardium or within the heart. Emergency pericardiocentesis and drainage were performed, where a total of 210 mL of bloody effusion was drained. Four months later, she was hospitalized with progressive hemoptysis and dyspnea. A large mixed mass occupying the right pericardium was later identified by coronary computed tomography angiography (CCTA). The mass was consistent with the right atrium, with heterogeneous thickened pericardium and localized moderate pericardial effusion. CCTA and positron emission tomography scans later showed metastases in both lungs and bilateral pleura. Nodules in hilar and mediastinal lymph nodes were also significant. Ultrasound-guided biopsy was performed, and the patient was ultimately diagnosed with an angiosarcoma based on final positive results for both CD31 and CD34 markers. The patient refused chemotherapy and passed away while waiting for her pathology results. The patient survived for 6 months since the first reported episode of PTE. Conclusions: Our case indicates that patients presenting with both embolism and hemorrhage should urgently be channeled to a clinical specialist to confirm any malignant etiology. This would be beneficial to confirm an early diagnosis and lengthen the duration of patient survival. However, the diagnosis of primary cardiac angiosarcoma is still challenging and requires multiple imaging modalities and biopsies in order to assist the accurate diagnosis of disease and achieve effective patient management.

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Massive pericardial effusion and cardiac tamponade revealed undiagnosed Turner syndrome: a case report.

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Massive pericardial effusion and cardiac tamponade revealed undiagnosed Turner syndrome: a case report.

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