Aortic Valve Disease in Turner Syndrome

Sachdev, Vandana; Matura, Lea Ann; Sidenko, Stanislav; Ho, Vincent B.; Arai, Andrew E.; Rosing, Douglas R.; Bondy, Carolyn A.

doi:10.1016/j.jacc.2008.02.035

Cited by 149 publications

(160 citation statements)

References 46 publications

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“…This percentage is high, even though our observational study might have underestimated the amount of dilated aorta. The relationship between aortic dilatation and BAV was significant (P!0.001), as suggested in previous studies (13,22). All our patients with an aortic diameter O32 mm are alive and none underwent cardiac surgery between 2009 and 2011.…”

Section: Discussionsupporting

confidence: 85%

“…The prevalence of this abnormality was identical in children and adults. Sachdev et al (13) previously reported a prevalence of BAV, as assessed by highly focused echography and MRI, of 30%. Interestingly, although BAVs are present at birth, we found that they were frequently detected much later in life, at a mean age of 19.1G14.8 (range: 0-66) years.…”

Section: Discussionmentioning

confidence: 97%

“…It constitutes a large population, including infants, children, adolescents, and adult patients, followed over a long period. Most studies on cardiovascular status in patients with TS have included less patients (13,14,15). The largest study by Mazzanti et al (16) included 594 patients with TS aged 1 month to 24 years.…”

Section: Discussionmentioning

confidence: 99%

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Cardiovascular findings and management in Turner syndrome: insights from a French cohort

Donadille

Rousseau

Zénaty

et al. 2012

European Journal of Endocrinology

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Objective: Congenital cardiovascular malformations and aortic dilatation are frequent in patients with Turner syndrome (TS). The objective of this study was to investigate the cardiovascular findings and management in a large cohort of patients, including children and adults. Design/methods: We recruited 336 patients with TS from a network of tertiary centers. We reviewed their files, checking for cardiovascular events, cardiac valve abnormalities, and aortic diameters indexed to body surface area (BSA) from magnetic resonance imaging (nZ110) or echocardiography (nZ300). Results: Informative cardiovascular data were available for only 233 patients. Vascular surgery was reported in 7.4% of the cohort. The first cause of surgery was aortic coarctation, detected in 6.9% at a median age of 9.5 (range: 0-60) years. Bicuspid aortic valve (BAV) was detected in 21% at a median age of 20 years (25th-75th percentiles: 15-30). At least one aortic diameter exceeded 32 mm in 12% of the cohort. This was detected at a median age of 19 (7-30) years. When indexed to BSA, at least one aortic diameter exceeded 20 mm/m 2 in 39% of the cohort. Conclusion: Our study shows that cardiovascular monitoring for TS patients is currently insufficient in France. BAV is present at birth, but often remains undiagnosed until later in life. Therefore, improved management in cardiovascular monitoring is required and a more systematic approach should be taken.

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Section: Discussionsupporting

confidence: 85%

Section: Discussionmentioning

confidence: 97%

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Cardiovascular findings and management in Turner syndrome: insights from a French cohort

Donadille

Rousseau

Zénaty

et al. 2012

European Journal of Endocrinology

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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: 77%

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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“…This feature is defined as the presence of (usually symmetric) redundant skin folds extending from mastoids to acromion processes but is sometimes confused with a simply short neck. This distinction is very important, since neck webbing results from tenting of the fetal skin over massively dilated jugular lymphatics (cystic hygroma) and is strongly associated with the coexistence of significant congenital cardiovascular defects, such as aortic coarctation and aortic valve defects [4,5]. The presence of neck webbing is usually obvious in children and leads to the diagnosis of TS in most cases; it may be more difficult to discern in obese adults.…”

Section: Phenotypementioning

confidence: 99%

Turner syndrome in childhood and adolescence

McCarthy

Bondy²

2008

Expert Review of Endocrinology & Metabolism

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This article reviews current patterns of ascertainment, clinical characteristics and quality of care for girls with Turner syndrome, based on a cohort of 100 girls (aged 7-17 years) prospectively evaluated at the National Institute of Child Health since 2001. Approximately 25% were diagnosed prenatally or at birth owing to webbed neck and other features typical of fetal lymphedema, few were diagnosed during early childhood, with the majority undiagnosed until age 9 years or older. Major clinical features included thyroid autoimmunity (51%), congenital cardiovascular anomalies (44%), liver abnormalities (36%), hypertension (34%), hearing loss (30%) and renal anomalies (18%). Of the group, 75% were being or had been treated with growth hormone. These girls were an average of 5 cm taller and significantly less obese than the untreated group. We discuss new guidelines for the initiation of puberty and urgent research needed to promote the health and longevity of girls suffering from Turner syndrome as they become adults. Keywords aorta; bicuspid aortic valve; lymphedema; phenotype; short stature; Turner syndrome; X chromosome Turner syndrome (TS) is a relatively common disorder of female development (affecting one out of 2000 births) caused by complete or partial monosomy for the X chromosome during embryonic development. The most consistent features are short stature and premature ovarian failure. Full-scale IQ is usually normal, with verbal scores typically greater than performance scores [1]. With timely diagnosis and intervention, girls with TS may gain improved height, benefit from attention to nonverbal learning difficulties early in school and have puberty at an age similar to their peers. Importantly, all these girls need comprehensive cardiovascular evaluation, since over a third have an underlying congenital cardiovascular defect that places them at an increased risk for life-threatening complications, such as pulmonary hypertension (e.g., partial anomalous pulmonary venous connection) or aortic dissection (i.e., bicuspid aortic valve or dilated ascending aorta). This article focuses on patterns of diagnosis and growth hormone (GH) (59%) are 45,X. The average age of our pediatric study subjects is 12.5 years, with a median of 13 years. The age of diagnosis demonstrates a distinct biphasic pattern ( Figure 1). Four girls were diagnosed prenatally, either incidentally during routine screening or because of an abnormal fetal ultrasound [2]. In total, 18 were diagnosed at birth because of neck webbing and associated signs of lymphedema and, in many cases, severe congenital heart disease. Surprisingly, very few girls were diagnosed during early childhood, despite the fact that growth failure is usually evident from shortly after birth [3], with 60% of girls not diagnosed until age 9 years or later. PhenotypeCommon phenotypic features of the NIH pediatric TS study group are summarized in Table 1. Only 22% of the group had neck webbing, or pterygium colli. This feature is defined as the presence of (u...

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Aortic Valve Disease in Turner Syndrome

Abstract: Girls and women with TS need focused screening of the aortic valve and root to identify the many asymptomatic individuals with abnormal valvular structure and/or aortic root dilation.

Cited by 149 publications

References 46 publications

Cardiovascular findings and management in Turner syndrome: insights from a French cohort

Cardiovascular findings and management in Turner syndrome: insights from a French cohort

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

Turner syndrome in childhood and adolescence

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