Correlations of phenotype and genotype in relation to morphologic remodelling of the aortic root in patients with Turner’s syndrome

Prandstraller, Daniela; Mazzanti, Laura; Giardini, Alessandro; Lovato, Luigi; Tamburrino, Federica; Scarano, Emanuela; Cicognani, Alessandro; Fattori, Rossella; Picchio, Fernando Maria

doi:10.1017/s1047951109004016

Cited by 12 publications

(16 citation statements)

References 28 publications

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“…Structural defects are mostly found at the left side of the heart with bicuspid aortic valve and coarctation being the most common [3], [7]–[9]. In the last 20 years, focus has been put on the dilation of the ascending aorta which can lead to dissection, disruption and sudden death at a relatively young age [4], [5], [21], [24]–[26]. Sporadic case reports describe coarctation and dilatation of the ascending aorta in males with 45,X/46,XY [16], suggesting similar underlying cardiovascular problems, but to our knowledge, this study is the first to investigate ECG, cardiac morphology and heart function in males with 45,X/46,XY as compared to 45,X/46,XY females.…”

Section: Discussionmentioning

confidence: 99%

Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism

et al. 2013

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ContextThe phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Males with 45,X/46,XY frequently show stigmata typically associated with TS. We hypothesised that males with 45,X/46,XY have similar cardiovascular pathology as females with 45,X/46,XY.ObjectiveTo investigate cardiovascular abnormalities in 45,X/46,XY males and to compare them with 45,X/46,XY females.DesignPatients with 45,X/46,XY mosaicism were selected from the Belgian Registry for Growth and Puberty problems and via the multidisciplinary clinic for disorders of sexual development.PatientsEighteen patients were included: 8 raised as females (F) and 10 as males (M).InterventionComplete cardiac examination with blood pressure measurement, ECG, echocardiography and MRI.Main Outcome MeasurementCardiac parameters were registered for both groups. In a second phase, clinical features and external masculinisation score (EMS) were retrospectively collected from the medical files.ResultsA structural heart defect was diagnosed before inclusion in 1 F with coarctation and 1 M with spontaneously closed VSD. A bicuspid aortic valve was found in 8 (3 F, 5 M). Dilation of the ascending aorta was present in 4 M and was severe in 2 young boys. QTc was prolonged in 3 F and 2 M.ConclusionMales with 45,X/46,XY mosaicism have similar cardiovascular pathology as 45,X/46,XY females. Dilation of the ascending aorta can be important, also in males. We advise cardiac screening and life-long monitoring in all males with 45,X/46,XY mosaicism according to the existing guidelines for Turner syndrome.

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Section: Discussionmentioning

confidence: 99%

Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism

et al. 2013

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“…For example, in a study of 107 patients with no associated cardiac lesions, dilatation of the sino-tubular junction was the main finding but not that of the ascending aorta compared with controls. 18 Although a case-control study may be an acceptable methodology for adults, normalisation to body habitus, to body surface area in particular, is the current standard methodology for the paediatric population. The normalisation bi-variate equation we applied is based on the best mathematical fit models and were duplicated with two different formulae reported in the literature 9,19 with similar trends (data not shown).…”

Section: Discussionmentioning

confidence: 99%

Aortic dilatation in patients with Turner’s syndrome without structural cardiac anomaly

et al. 2015

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“…Coarctation of the aorta and bicuspid aortic valve are the most common cardiovascular abnormalities observed in Turner's syndrome . Individuals with coarctation are also at increased risk of dissection and suffer premature mortality due to this and other vascular causes, even after surgical repair.…”

Section: Discussionmentioning

confidence: 99%

The Forensic Implications of Turner's Syndrome

Power

Langlois

Byard

2013

Journal of Forensic Sciences

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Turner's syndrome, the most common sex chromosome disorder of females, is caused by complete or partial loss of one X chromosome and is associated with a wide range of internal and external manifestations and increased mortality rates (three to nine times the background population). While individuals with Turner's syndrome may survive for many decades, premature and unexpected deaths can occur that bring decedents to the attention of forensic examiners. Causes of death in Turner's syndrome are often linked to underlying cardiovascular conditions such as aortic dissection, congenital cardiovascular disease, ischemic heart, and cerebrovascular disease, but deaths due to noncardiac causes also occur with increased frequency. The latter include epilepsy, diabetes mellitus, chronic renal disease, pneumonia, chronic liver disease, and malignancy. Thus, the autopsy evaluation of these cases requires careful examination of all major organ systems, with the consideration of confirmatory cytogenetic testing.

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Correlations of phenotype and genotype in relation to morphologic remodelling of the aortic root in patients with Turner’s syndrome

Cited by 12 publications

References 28 publications

Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism

Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism

Aortic dilatation in patients with Turner’s syndrome without structural cardiac anomaly

The Forensic Implications of Turner's Syndrome

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