Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes
Alona Birjiniuk1,2, Allison Goetsch Weisman2,3, Christina Laternser1
1Division of Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, 225 E Chicago Avenue, Box 21, Chicago, IL, 60611-2991, USA.
Pediatric Cardiology
|May 5, 2023
Summary
Patients with Turner syndrome (TS) and monosomy X (45X) have higher rates of congenital heart defects (CHD) and cardiac surgery. However, all TS subtypes share similar risks for aortic dilation, necessitating consistent cardiovascular surveillance.
Area of Science:
- Genetics
- Cardiology
- Endocrinology
Background:
- Turner syndrome (TS) is a genetic condition affecting females, characterized by X chromosome abnormalities.
- Cardiovascular issues, including congenital heart defects (CHD) and aortic dilation, are prevalent in TS.
- The impact of different TS karyotypes on cardiovascular manifestations remains understudied.
Purpose of the Study:
- To compare cardiovascular manifestations, specifically CHD and aortic dilation, across various Turner syndrome karyotypes.
- To determine if mosaic TS has a less severe cardiovascular phenotype compared to non-mosaic TS.
Main Methods:
- A single-center retrospective cohort study of 182 TS patients (2000-2022).
- Karyotypes were categorized (e.g., 45X, mosaicism, isochromosome Xq).
- Prevalence of CHD and aortic dilation was compared between monosomy X and other subtypes using statistical tests.
Main Results:
- Congenital heart defects (CHD) were significantly more common in monosomy X (45X) TS compared to other karyotypes (61.4% vs. 26.8%).
- Specific CHDs like bicuspid aortic valve and coarctation of the aorta were more frequent in the 45X group.
- Cardiac surgery was also more prevalent in the 45X group (24.3% vs. 8.9%).
- No statistically significant difference in the prevalence of aortic dilation was observed between karyotype groups.
Conclusions:
- While monosomy X (45X) TS is associated with a higher incidence of CHD and need for cardiac surgery, all TS subtypes appear to have a similar risk for aortic dilation.
- Consistent cardiovascular surveillance for aortic dilation is recommended for all patients with Turner syndrome, regardless of karyotype.
Keywords:
Aortic dilationBicuspid aortic valveCoarctation of the aortaCongenital heart diseaseTurner syndromeMore Related Videos
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