A Turn in the Wrong Direction. What Is Missing?

Abstract

Objective:The case highlights the importance of specific non-traditional cardiovascular risk factors in a patient with premature severe cardiovascular disease, despite an apparently adequate control of traditional cardiovascular risk factors.Design and method:Clinical Case.Results:We present the case of a 38 year-old female with Turner syndrome, with cardiovascular risk factors (mild dislypidemia, type 2 diabetes, grade 1 ESC/ ESH hypertension) who presents to the emergency department for newly-onset constrictive chest pain. Her chronic treatment consisted of a low-dose ACEi and metformin. Clinical exam was unremarkable, except for specific clinical phenotype, with normal BP values in both arms and without any signs of congestion. The electrocardiogram showed sinus rhythm of 65 beats/min, narrow QRS, negative T waves in inferior leads, as well a Q wave in lead III. Hs- troponin (1046pg/ml, ULN: 10pg/ml) and NT-proBNP levels (820,9pg/ml) were elevated. Echocardiography revealed a normal ejection fraction, with localized hypokinesia of the inferior wall and no significant valvular disease. The aortic valve was tricuspid and no signs of aortic coarctaction were observed from the suprasternal view. Coronarography was performed, showing significant CAD, with multiple lesions on ADA, LCXA and RCA. The two suboclusive lesions from the RCA were addressed using two drug eluting stents. The evolution was favourable under specific treatment. The baseline levels of LDLc (117 mg/dl) and glycosylated haemoglobin (5,7%) were not as high as we initially expected, given the severe CAD. Furthermore, the ambulatory 24 h BP monitoring after discharge confirmed that the previous treatment with low-dose ACEi was efficient in maintaining the target BP values.Conclusions:Turner syndrome is associated with a variety of cardiovascular manifestations, such as aortic coarctation, which leads to secondary hypertension, as well as an increased risk of cardiovascular events. In our patient, the hypertension was essential, without any arguments for secondary hypertension, as we would have expected. Furthermore, despite the fact the patient exhibited several traditional cardiovascular risk factors, they were controlled within the recommended targets (with the exception of LDLc, slightly higher than 100 mg/dl). The disease duration appears to be critical, as the patient was diagnosed with hypertension more than 15 years ago. We concluded that the advanced premature CAD is most likely the result of the hormonal imbalance and lack of hormone replacement therapy, for which the patient was no longer eligible. Drastic control of traditional cardiovascular risk factors in this case will probably prove to be insufficient.