Turner syndrome cardiovascular disease

Also known as: Turner syndrome heart disease

Cardiovascular anomalies in Turner syndrome including bicuspid valve, coarctation and aortic dilation.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: not applicable; Female: affected only; Children: yes, congenital
Gene(s) involved: SHOX, TIMP1

Etiology & mechanism

X chromosome monosomy (haploinsufficiency of X-linked genes).

Gene(s) involved (2)

SHOXTIMP1

Symptoms & signs (9)

aortic dilationaortic dissectionbicuspid aortic valvecoarctationhypertensionlymphedemaprimary amenorrheashort staturewebbed neck

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.