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Association between Cardiac Malformations and Karyotype in Turner Syndrome - a Single Centre Study

Cecilia Lazea
Cecilia Lazea
, 
Simona Bucerzan
Simona Bucerzan
, 
Camelia Al-Khzouz
Camelia Al-Khzouz
, 
Victoria Cret
Victoria Cret
, 
Mirela Crisan
Mirela Crisan
, 
Diana Miclea
Diana Miclea
 oraz 
Paula Grigorescu-Sido
Paula Grigorescu-Sido
   | 05 maj 2022
Romanian Journal of Cardiology's Cover Image
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Article Category: Original Article
Data publikacji: 05 maj 2022
Zakres stron: 847 - 854
DOI: https://doi.org/10.47803/rjc.2020.31.4.847
Słowa kluczowe
© 2021 Cecilia Lazea et al., published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.

Figure 1

Transthoracic echocardiogram in parasternal short-axis view illustrating bicuspid aortic valve.
Transthoracic echocardiogram in parasternal short-axis view illustrating bicuspid aortic valve.

Figure 2

Transthoracic echocardiogram in suprasternal view illustrating narrow aortic isthmus (A) and high blood flow speed – continuous wave Doppler (B) in a patient with coarctation of the aorta.
Transthoracic echocardiogram in suprasternal view illustrating narrow aortic isthmus (A) and high blood flow speed – continuous wave Doppler (B) in a patient with coarctation of the aorta.

Figure 3

Transthoracic echocardiogram in subcostal long-axis view illustrating an ostium secundum atrial septal defect.
Transthoracic echocardiogram in subcostal long-axis view illustrating an ostium secundum atrial septal defect.

Figure 4

Transthoracic echocardiogram in parasternal long-axis view illustrating a dilated coronary sinus in a patient with persistent left superior vena cava.
Transthoracic echocardiogram in parasternal long-axis view illustrating a dilated coronary sinus in a patient with persistent left superior vena cava.

The karyotype in TS patients

Karyotype Number %
45,X 58 68.3
45,X/46,XX 18 21.2
45,X/47,XXX 1 1.2
46,Xi (Xq) 3 3.5
46,del Xq 3 3.5
46,del Xp 2 2.3

Baseline characteristics of patients with TS

Patients n (%) Group 158 patients Group 227 patients Total85 patients p
Mean age at diagnosis (years) 8.6 8 8.6 0.077
Malformations Heart 22 (38) 4 (14.8) 26 (31) 0.031
Renal 7 (12) 7 (25.9) 14 (16) 0.108
Skeletal 21 (36) 6 (22.2) 27 (32) 0.197
Neuropsychological manifestations Intellectual disability 7 (12) 3 (11.1) 10 (11.7) 0.898
Behavioural problems 1 (1.7) 1 (3.7) 2 (2.3) 0.575
Neurosensorial deafness 2 (3.4) 1 (3.7) 3 (3.5) 0.952
Cutaneous manifestations Psoriasis 2 (3.4) 1 (3.7) 3 (3.5) 0.952
Vitiligo 0 1 (3.7) 1 (1.2) NA
Alopecia 1 (1.7) 0 1 (1.2) NA
Thyroid dysfunction 13 (22.4) 5 (18.5) 18 (21.2) 0.682
Cardiovascular risk factors Obesity 11 (18.9) 3 (11.1) 14 (16.5) 0.363
Dyslipidaemia 5 (8.6) 1 (3.7) 6 (7.1) 0.765
Insulin resistance 1 (1.7) 0 1 (1.2) NA

Types of cardiac abnormalities in patients with TS

Cardiac abnormalities n (%) Group 158 patients Group 227 patients Total85 patients p
Bicuspid aortic valve 13 (22.4) 1 (3.7) 14 (16.5) 0.028
Coarctation of the aorta 9 (15.5) 1 (3.7) 10 (11.8) 0.115
Aortic stenosis 3 (5.1) 1 (3.7) 4 (4.7) 0.765
Atrial septal defect 4 (6.9) 0 4 (4.7) NA
Aortic regurgitation 4 (6.9) 1 (3.7) 5 (5.8) 0.560
Mitral valve prolapse 2 (3.4) 1 (3.7) 3 (3.5) 0.952
Ventricular septal defect 1 (1.7) 0 1 (1.2) NA
Patent ductus arteriosus 0 1 (3.7) 1 (1.2) NA
Persistent left superior vena cava 0 1 (3.7) 1 (1.2) NA
eISSN:
2734-6382
Język:
Angielski
Częstotliwość wydawania:
4 razy w roku
Dziedziny czasopisma:
Medicine, Clinical Medicine, Internal Medicine, Cardiology, Pediatrics and Juvenile Medicine, Paediatric Cardiology, Surgery, Cardiac Surgery
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