Massive pericardial effusion and cardiac tamponade revealed undiagnosed Turner syndrome: a case report
- PDF / 1,083,227 Bytes
- 5 Pages / 595.276 x 790.866 pts Page_size
- 69 Downloads / 207 Views
Open Access
CASE REPORT
Massive pericardial effusion and cardiac tamponade revealed undiagnosed Turner syndrome: a case report Wei Qiang1, Rongxin Sun2, Xiaopu Zheng3 and Yuan Du3*
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. Keywords: Pericardial effusion, Cardiac tamponade, Autoimmune thyroid disease, Hypothyroidism, Turner syndrome Background Turner syndrome (TS) is a rare condition with short stature, ovarian dysgenesis and infertility in women as the result of either complete or partial loss of one X chromosome. TS is also associated congenital heart malformations, metabolism disorders such as diabetes mellitus *Correspondence: [email protected] 3 Department of Cardiovascular Medicine, The First Affiliated Hospital of Xi’an Jiaotong University, No. 277 West Yanta Road, Xi’an 710061, People’s Republic of China Full list of author information is available at the end of the article
and osteoporosis. Patients with TS are prone to autoimmune disorders among which Hashimoto’s thyroiditis is the most common one [1]. The average age at diagnosis is around 15 years old, but delayed diagnosis is not rare [2]. Here, we reported woman diagnosed with TS at the age of 31, with initial presentation of massive pericardial effusion and cardiac tamponade due to very severe hypothyroidism. This case emphasized the association between thyroid diseases and TS and also the necessity of a m
Data Loading...
