@article {van Egmond69, author = {H van Egmond and E Orye and M Praet and M Coppens and A Devloo-Blancquaert}, title = {Hypoplastic left heart syndrome and 45X karyotype.}, volume = {60}, number = {1}, pages = {69--71}, year = {1988}, doi = {10.1136/hrt.60.1.69}, publisher = {BMJ Publishing Group Ltd}, abstract = {A review of 63 patients with 45X karyotype (Turner{\textquoteright}s syndrome) admitted to a hospital from 1972 to 1985 showed that 20 (32\%) had one or more major cardiac malformations (mostly coarctation and aortic stenosis). Four (20\%) died in the neonatal. One infant had mitral stenosis and severe aortic stenosis and died at the age of 35 days. The three (15\%) other patients who died had a typical hypoplastic left heart syndrome, with an atretic aortic valve in two and pinpoint aortic valve in one. Turner{\textquoteright}s syndrome was clinically suspected in three of the cases. One of these had mosaicism (46XX,45X) the others had a 45X pattern. During the same period (1972-85) 39 patients (14 girls and 25 boys) were admitted with diagnosis of hypoplastic left heart syndrome. Three (21.4\%) girls had a 45X karyotype. The high incidence of hypoplastic left heart syndrome in Turner{\textquoteright}s syndrome and of Turner{\textquoteright}s syndrome in girls with hypoplastic left heart syndrome suggests that hypoplastic left heart syndrome can be another expression of the 45X karyotype.}, issn = {0007-0769}, URL = {https://heart.bmj.com/content/60/1/69}, eprint = {https://heart.bmj.com/content/60/1/69.full.pdf}, journal = {Heart} }