Cardiovascular findings and management in Turner syndrome: insights from a French cohort.
OBJECTIVE
Congenital cardiovascular malformations and aortic dilatation are frequent in patients with Turner syndrome (TS). The objective of this study was to investigate the cardiovascular findings and management in a large cohort of patients, including children and adults.


METHODS
We recruited 336 patients with TS from a network of tertiary centers. We reviewed their files, checking for cardiovascular events, cardiac valve abnormalities, and aortic diameters indexed to body surface area (BSA) from magnetic resonance imaging (n=110) or echocardiography (n=300).


RESULTS
Informative cardiovascular data were available for only 233 patients. Vascular surgery was reported in 7.4% of the cohort. The first cause of surgery was aortic coarctation, detected in 6.9% at a median age of 9.5 (range: 0-60) years. Bicuspid aortic valve (BAV) was detected in 21% at a median age of 20 years (25th-75th percentiles: 15-30). At least one aortic diameter exceeded 32 mm in 12% of the cohort. This was detected at a median age of 19 (7-30) years. When indexed to BSA, at least one aortic diameter exceeded 20 mm/m(2) in 39% of the cohort.


CONCLUSIONS
Our study shows that cardiovascular monitoring for TS patients is currently insufficient in France. BAV is present at birth, but often remains undiagnosed until later in life. Therefore, improved management in cardiovascular monitoring is required and a more systematic approach should be taken.
Department of Endocrinology, Centre de référence des Maladies Endocriniennes Rares de la Croissance (CMERC), Assistance Publique - Hôpitaux de Paris, Saint Antoine Hospital, 184 Rue du Faubourg Saint-Antoine, 75011 Paris, France. bruno.donadille@sat.aphp.fr
Bruno
B
Donadille
Alexandra
A
Rousseau
Delphine
D
Zenaty
Sylvie
S
Cabrol
Carine
C
Courtillot
Dinane
D
Samara-Boustani
Sylvie
S
Salenave
Laurence
L
Monnier-Cholley
Catherine
C
Meuleman
Guillaume
G
Jondeau
Laurence
L
Iserin
Lise
L
Duranteau
Laure
L
Cabanes
Nathalie
N
Bourcigaux
Damien
D
Bonnet
Philippe
P
Bouchard
Philippe
P
Chanson
Michel
M
Polak
Philippe
P
Touraine
Yves
Y
Lebouc
Jean-Claude
JC
Carel
Juliane
J
Léger
Sophie
S
Christin-Maitre
D000293:Adolescent; D000328:Adult; D000368:Aged; D000465:Algorithms; D002318:Cardiovascular Diseases / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D005602:France / Q000453:epidemiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged; D014424:Turner Syndrome / Q000150:complications / Q000453:epidemiology* / Q000628:therapy*; D055815:Young Adult