Diagnosis of Turner syndrome after presenting with ischemic cardiomyopathy: A case report

Abstract

Untreated Turner syndrome increases the risk of ischemic cardiomyopathy. We report a 44-year-old Chinese woman who was diagnosed with Turner syndrome owing to symptoms of ischemic cardiomyopathy and heart failure confirmed through cardiac magnetic resonance imaging, coronary angiography, and abnormal brain natriuretic peptide levels. The patient had a short stature, underdeveloped uterus with primary amenorrhea, and congenital left upper pulmonary vein reflux to the right atrium; she was diagnosed with Turner syndrome through karyotype analysis. Because she refused coronary artery bypass grafting, she received aspirin, torasemide, atorvastatin, bisoprolol, sacubitril/valsartan, empagliflozin, spironolactone, and complex packing estradiol tablets/estradiol and dydrogesterone tablets (1–10 mg). After 3 months of treatment, her heart failure symptoms disappeared. Ischemic heart disease is a high-risk complication in patients with Turner syndrome. Prompt diagnosis and comprehensive management through a multidisciplinary approach can improve patient outcomes. Further evidence is needed to establish a secondary prevention strategy for Turner syndrome with ischemic cardiomyopathy.