Cardiovascular Malformations and Complications in Turner Syndrome

Sybert, Virginia P.

doi:10.1542/peds.101.1.e11

Cited by 289 publications

(213 citation statements)

References 37 publications

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“…These findings suggest that different BAV morphologies may represent different developmental abnormalities, such that RN morphology predisposes the aortic valve to early manifestation of disease and RL morphology results in latent AVD. Interestingly, similar findings have been demonstrated in Turner syndrome patients, who have been shown to have an increased risk for BAV with RL morphology and a low risk for AVD early in life [Sybert, 1998;Sachdev et al, 2008].…”

Section: Discussionsupporting

confidence: 78%

Risk factors for aortic valve disease in bicuspid aortic valve: A family‐based study

Calloway

Martin

Zhang

et al. 2011

American J of Med Genetics Pt A

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Bicuspid aortic valve (BAV) is the most common cardiovascular malformation and is a risk factor for aortic valve disease (AVD). AVD typically manifests later in life, and the majority of cases have BAV. The purpose of this study was to identify risk factors for AVD in individuals with BAV. Families enriched for BAV were identified in a pediatric population, and echocardiography was performed on all family members. AVD was identified as stenosis and/or insufficiency, and BAV morphology was defined as right-left (RL), right-non (RN) or indeterminate. Heritability (h 2 ) of AVD and BAV morphology was estimated using variance components analysis (SOLAR). To assess AVD risk over time, we used Generalized Estimating Equations methodology (SAS) adjusting for age and gender. A total of 1,128 individuals from 226 families were evaluated. BAV was identified in 281 individuals (25%), and AVD was identified in 167 (59%) individuals with BAV. Previously, we identified a high heritability for BAV (h 2 ¼ 0.89 AE 0.06, P < 0.00001), but the heritability of AVD in the present study (0.07 AE 0.17, P ¼ 0.33) was low. AVD was significantly associated with BAV morphology (P ¼ 0.0027) and age (P ¼ 0.0068). Children with RN BAV and adults with RL BAV were more likely to develop AVD. BAV is determined largely by genetic effects, but the phenotypic variability of AVD is primarily determined by nongenetic factors. BAV morphology may have predictive value for the time course of AVD.

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Section: Discussionsupporting

confidence: 78%

Risk factors for aortic valve disease in bicuspid aortic valve: A family‐based study

Calloway

Martin

Zhang

et al. 2011

American J of Med Genetics Pt A

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“…32,33 There has never been a prospective study of risk factors for aortic dissection in TS, but retrospective analyses 32,33 suggest that hypertension, coarctation, and bicuspid aortic valve are risk factors in TS, as in nonsyndromic aortic dissection. However, Ϸ10% of cases do not have any apparent risk factors, and it thus appears possible that clinically silent anomalies such as ETA and coarctation, as documented in the present study, could predispose to aortic dissection in TS.…”

Section: Discussionmentioning

confidence: 99%

Major vascular anomalies in Turner syndrome: Prevalence and magnetic resonance angiographic features

Ho¹,

Bakalov²,

Cooley³

2005

ACC Current Journal Review

105

205

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Background-Turner syndrome (TS) is associated with aortic coarctation and dissection; hence, echocardiographic evaluation of all patients is currently recommended. X-ray angiography in clinically symptomatic patients has suggested a range of other vascular anomalies, but the true prevalence of such lesions in TS is unknown. To better understand the prevalence and pathogenesis of cardiovascular defects in TS, we prospectively evaluated a group of asymptomatic adult volunteers with TS using magnetic resonance (MR) angiography. Methods and Results-A total of 85 adults with TS and 27 normal female adult volunteers underwent gadolinium-enhanced 3D MR angiography. A high prevalence of aortic anomalies was seen in women with TS, including elongation of the transverse arch (49%), aortic coarctation (12%), and aberrant right subclavian artery (8%). Venous anomalies were also prominent, including persistent left superior vena cava (13%) and partial anomalous pulmonary venous return (13%). None of these anomalies were found in healthy female controls. The constellation of elongation of the transverse arch, aortic coarctation, and persistent left superior vena cava was significantly associated with women with TS. Neck webbing and increased thoracic anterior-to-posterior dimension diameters were strong predictors for arterial and venous anomalies. Conclusions-Thoracic vascular anomalies are common in TS, occurring in Ϸ50% of a group not preselected for cardiovascular disease. The highly significant association between neck webbing, increased chest diameter, and these vascular anomalies suggests that in utero, centrally localized lymphatic obstruction may contribute to these cardiovascular deformities in TS. Improved recognition of these often-undetected vascular lesions may be important for identification of patients in need of closer cardiovascular monitoring.

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“…11,12 Short stature is almost universal. 13 Additional features are common [14][15][16][17][18][19][20] and are listed in Table 1. Interestingly, the individual's phenotype appears to be dependent on the exact genotype and even the parental origin of the remaining X chromosome.…”

Section: Systemic Featuresmentioning

confidence: 99%

Ophthalmic features of Turner's syndrome

Denniston

Butler

2004

Eye

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Turner's syndrome is one of the most common of all chromosomal abnormalities and is associated with significant ophthalmic morbidity. Turner's 1938 account included two patients with strabismus, and hitherto the condition has generated more interest among orthoptists than ophthalmologists. This systematic review of the literature seeks to redress the balance. Based on the pooled data of 274 patients with Turner's syndrome, it is the most complete evaluation so far of the prevalence and severity of ophthalmic problems in this population. This includes both a systematic review of the ophthalmic literature (via Medline) and the much larger body of work available in the orthoptic literature. Finally, we consider recent progress that enables the ophthalmologist to progress from the simple recognition of a phenotype to the correlation of genotypic variations with embryogenesis and consequent features of that phenotype.

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Cardiovascular Malformations and Complications in Turner Syndrome

Cited by 289 publications

References 37 publications

Risk factors for aortic valve disease in bicuspid aortic valve: A family‐based study

Risk factors for aortic valve disease in bicuspid aortic valve: A family‐based study

Major vascular anomalies in Turner syndrome: Prevalence and magnetic resonance angiographic features

Ophthalmic features of Turner's syndrome

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