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

BMC Cardiovascular Disorders

Rongxin Sun¹  Xiaopu Zheng²  Yuan Du²  Wei Qiang³ 

[1] Beijing Key Laboratory of Diabetes Research and Care, Center for Endocrine Metabolism and Immune Diseases, Luhe Hospital, Capital Medical University, 101149, Beijing, People’s Republic of China;Department of Cardiovascular Medicine, The First Affiliated Hospital of Xi’an Jiaotong University, No. 277 West Yanta Road, 710061, Xi’an, People’s Republic of China;Department of Endocrinology, The First Affiliated Hospital of Xi’an Jiaotong University, 710061, Xi’an, People’s Republic of China;

关键词: Pericardial effusion;    Cardiac tamponade;    Autoimmune thyroid disease;    Hypothyroidism;    Turner syndrome;   

DOI  :  10.1186/s12872-020-01728-2

来源: Springer

【 摘 要 】

BackgroundPatients 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 presentationA 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. ConclusionHypothyroidism 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.

【 授权许可】

CC BY