ESPE Abstracts (2016) 86 P-P2-871

Cardiovascular Anomalies in Turner Syndrome

Ali El Mahdi Haddama, Nora Soumeya Fedalab & Djamila Meskinea


aDepartment of Endocrinology Bologhine Hospital, Algiers, Algeria; bDepartment of Endocrinology Bab El Oued Hospital, Algiers, Algeria


Background: Turner syndrome (TS) has several defects affecting different organs. Heart defects are the most common. They can be symptomatic (Heart murmur, high blood pressure) or diagnosed systematically. The chromosomal profile affects the nature of the anomalies encountered.

Objective and hypotheses: Report cardiac abnormalities in the ST.

Method: This is a retrospective study of 60 TS patients identified in 20 years. Mean age was 16±0.4 (3 months-17) They were given a complete physical examination, a cardiovascular evaluation (ECG, Doppler ultrasound and cardiac MRI) and a karyotype at diagnosis. Annual Cardiovascular revaluations (ECG, Doppler ultrasound) and at the slightest sign were made

Results: Heart abnormalities are found in 45% of cases. The most frequent abnormalities are bicuspid aortic valve (30%) and coarctation of the aorta (10%). Interatrial communications, pulmonary valve or blood abnormalities ((stenosis and/or mitral disease (prolapse) were noted in 5% of cas. Cardiac abnormalities were present at diagnosis. Revaluations have noted the appearance of a hypertension in 10% associated with e hypercholesterolemia (6%) and diabetes mellitus in 4%. There was a genotype-phenotype correlation. Heart abnormalities are present in 70% of subjects with monosomies 45 X0; they are less common (15%) in case of chromosomal formulas mosaic. Aortic coarctation xas more common in formulas 45 X0, pulmonary stenosis in mosaics X0 45 - 46 XX

Conclusion: The frequency of cardiovascular abnormalities in T S justifies systematic cardiological assessment. Many of these defects are curable surgically. prolonged cardiac monitoring of these patients is necessary for screening scalability.

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