Iris Gutmark-Little

Cardiovascular Anomalies in Turner Syndrome: Spectrum, Prevalence, and Cardiac MRI Findings in a Pediatric and Young Adult Population

OBJECTIVE Turner syndrome affects one in 2,500 girls and women and is associated with cardiovascular anomalies. Visualizing the descending thoracic aorta in adults with Turner syndrome with echocardiography is difficult. Therefore, cardiac MRI is the preferred imaging modality for surveillance. Our goals were to use cardiac MRI describe the spectrum and frequency of cardiovascular abnormalities and to evaluate aortic dilatation and associated abnormalities in pediatric patients with Turner syndrome. MATERIALS AND METHODS The cases of 51 patients with Turner syndrome (median age, 18.4 years; range, 6-36 years) were evaluated with cardiac MRI. The characteristics assessed included aortic structure, elongation of the transverse aortic arch, aortic diameter at multiple locations, and coarctation of the aorta (CoA). Additional evaluations were made for presence of bicuspid aortic valve (BAV), and partial anomalous pulmonary venous return (PAPVR). Associations between the cardiac MRI data and the following factors were assessed: age, karyotype, body surface area, blood pressure, and ventricular sizes and function. RESULTS Sixteen patients (31.4%) had elongation of the transverse aortic arch, eight (15.7%) had CoA, 20 (39.2%) had BAV, and eight (15.7%) had PAPVR. Aortic dilatation was most common at the aortic sinus (30%). Elongation of the transverse aortic arch was associated with CoA (p < 0.01) and BAV (p < 0.05). Patients with elongation of the transverse aortic arch had dilated aortic sinus (p < 0.05). Patients with PAPVR had increased right heart mass (p < 0.05), increased ratio of main pulmonary artery to aortic valve blood flow (p = 0.0014), and increased right ventricular volume (p < 0.05). CONCLUSION Cardiovascular anomalies in pediatric patients with Turner syndrome include aortic abnormalities and PAPVR. The significant association between elongation of the transverse aortic arch and CoA, BAV, and aortic sinus dilatation may contribute to increased risk of aortic dissection. The presence of PAPVR can be hemodynamically significant. These findings indicate that periodic cardiac MRI screening of persons with Turner syndrome is beneficial.

Obesity and the metabolic syndrome in pediatric psoriasis

Psoriasis is a common, chronic inflammatory dermatosis that often has its onset during childhood. There is increasing evidence that psoriasis in adults is associated with obesity, the metabolic syndrome, and associated comorbidities, including insulin resistance/type 2 diabetes, dyslipidemia, hypertension, and cardiovascular disease. This association is postulated to arise, at least in part, as a result of a systemic proinflammatory state that is mediated by adipose tissue. Several recent observational studies suggest that children and adolescents with psoriasis may be at increased risk of being overweight and obese as well as having an increased risk for features of the metabolic syndrome. Such an association raises concern with regards to the long-term health implications for children and adolescents with psoriasis and suggests that better awareness, evaluation, and management of overweight and obese patients and associated metabolic disease are warranted in this population.

Cardiac magnetic resonance imaging in Turner syndrome.

Girls and women with Turner syndrome (TS) have a highly increased morbidity as the result of cardiovascular disease, both congenital and acquired. Increased clinical use of cardiac magnetic resonance imaging (CMR) in patients with TS over recent years has allowed for characterization of disease not always possible with standard imaging modalities, such as echocardiography (echo). In this review, we discuss the current literature regarding CMR in patients with TS and guidelines for its use.

Partial anomalous pulmonary venous return is common in Turner syndrome.

Abstract Background: Cardiovascular disease affects >50% of Turner syndrome (TS) patients. With newer imaging modalities, this prevalence increases and the spectrum of recognized anomalies broadens. Objective: To determine the prevalence and hemodynamic significance of partial anomalous pulmonary venous return (PAPVR) in adolescents and young adults with TS using transthoracic echocardiogram (TTE) and cardiac magnetic resonance (CMR), and to study the association with phenotype. Methods: The records of 39 young TS patients who had received TTE and CMR were reviewed. Results: PAPVR was diagnosed in seven (18%) patients; six were newly diagnosed by CMR after normal TTE. In one subject, PAPVR was associated with right ventricular enlargement and a pulmonic blood flow (Qp) to systemic blood flow (Qs) ratio of 1.9:1.0, necessitating surgical repair. In other subjects with and without PAPVR, Qp:Qs and the right ventricle to left ventricle end-diastolic volume ratio were statistically different. Other clinical features were not predictive of PAPVR. Conclusions: The prevalence of PAPVR is high in TS, and it may be hemodynamically significant. Diagnosis by TTE can be difficult. Appropriate screening and management are indicated.

Effects of aortic irregularities on blood flow

Anatomic aortic anomalies are seen in many medical conditions and are known to cause disturbances in blood flow. Turner syndrome (TS) is a genetic disorder occurring only in females where cardiovascular anomalies, particularly of the aorta, are frequently encountered. In this study, numerical simulations are applied to investigate the flow characteristics in four TS patient- related aortic arches (a normal geometry, dilatation, coarctation and elongation of the transverse aorta). The Quemada viscosity model was applied to account for the non-Newtonian behavior of blood. The blood is treated as a mixture consisting of water and red blood cells (RBC) where the RBCs are modeled as a convected scalar. The results show clear geometry effects where the flow structures and RBC distribution are significantly different between the aortas. Transitional flow is observed as a jet is formed due to a constriction in the descending aorta for the coarctation case. RBC dilution is found to vary between the aortas, influencing the WSS. Moreover, the local variations in RBC volume fraction may induce large viscosity variations, stressing the importance of accounting for the non-Newtonian effects.

Oophorectomy versus salpingo-oophorectomy in Turner syndrome patients with Y-chromosome material: clinical experience and current practice patterns assessment

BACKGROUND/PURPOSE Gonadectomy is recommended in Turner syndrome (TS) patients with Y-chromosome material due to high risk of tumor in the dysgenetic gonads. No recommendations exist on whether concurrent salpingectomy should be performed. METHODS A retrospective chart review of surgical procedure and histopathology in TS patients with Y-chromosome enrolled in a TS database was undertaken at Cincinnati Childrens Hospital Medical Center. An electronic survey was sent to members of the International Pediatric Endosurgery Group to assess prevalent practice patterns and attitudes on gonadectomy and concurrent salpingectomy in this population. RESULTS In March 2011, 12/158 (8%) TS girls (mean age 6.6 years) enrolled in the database had TS with Y-chromosome. Gonadoblastoma was identified in 4/12 (33%) patients and 2/4 had malignant transformation to dysgerminoma and teratoma. Approach to gonadectomy was varied and 3/12 had concurrent salpingectomy. Fifty-four laparoscopic surgeons responded to the survey with no clear consensus on whether salpingectomy should be concurrently performed. CONCLUSIONS TS patients with Y-chromosome have an increased risk of gonadal tumor development and gonadectomy is recommended. While there is no consensus among pediatric laparoscopic surgeons on concurrent salpingectomy, it is reasonable to consider this combination procedure.

Numerical investigation of mass transport through patient-specific deformed aortae

Blood flow in human arteries has been investigated using computational fluid dynamics tools. This paper considers flow modeling through three aorta models reconstructed from cross-sectional magnetic resonance scans of female patients. One has the normal control configuration, the second has elongation of the transverse aorta, and the third has tortuosity of the aorta with stenosis. The objective of this study is to determine the impact of aortic abnormal geometries on the wall shear stress (WSS), luminal surface low-density lipoproteins (LDLs) concentration, and oxygen flux along the arterial wall. The results show that the curvature of the aortic arch and the stenosis have significant effects on the blood flow, and in turn, the mass transport. The location of hypoxia areas can be predicted well by ignoring the effect of hemoglobin on the oxygen transport. However, this simplification indeed alters the absolute value of Sherwood number on the wall.

Buccally Administered Intranasal Desmopressin Acetate for the Treatment of Neurogenic Diabetes Insipidus in Infancy

CONTEXT The treatment of neurogenic diabetes insipidus (DI) in infancy is challenging and complicated by fluid overload and dehydration. Therapy with subcutaneous (SC), intranasal (IN), or oral tablet desmopressin acetate (1-desamino-8-D-arginine vasopressin [DDAVP]) remains difficult to titrate in infants. OBJECTIVE Assess the efficacy and safety of buccally administered IN DDAVP for the management of infants with neurogenic DI. DESIGN, SETTING, PARTICIPANTS, AND INTERVENTION Retrospective review of clinical and laboratory data of 15 infants (mean age, 4.5 mo) with neurogenic DI treated at a tertiary care center. Treatment was with diluted IN DDAVP formulation (10 mcg/mL) administered buccally via a tuberculin syringe to the buccal mucosa. RESULTS After initial DDAVP titration of 2-3 days, IN DDAVP doses ranged from 1 to 5 mcg twice daily given buccally. Mean serum sodium concentration at DI diagnosis was 159 ± 6.6 mmol/L (range, 151-178) and improved to 142 ± 3.5 mmol/L (range, 137-147) with the buccally administered IN DDAVP. Normal sodium concentrations were established without major fluctuations. Serum sodium was then maintained in the outpatient setting at a mean of 145.7 ± 4.8 mmol/L (mean duration of follow-up, 11 mo). CONCLUSIONS Buccally administered IN formulation of DDAVP provides a practical and safe treatment alternative for neurogenic DI in infancy. Our approach avoided severe hypo- and hypernatremia during DDAVP titration and ongoing outpatient management of DI. The possibility for smaller dosage increments and ease of administration make IN DDAVP administered buccally preferable over other DDAVP treatment options in infants.

The Impact of Aortic Arch Geometry on Flow Characteristics

Cardiovascular defects characterized by geometrical anomalies of the aorta and its eecton the blood ow is the focus of this study. Not only are the local ow characteristicsgeometry dependent, but t ...

Growth Hormone Therapy in Children with Turner Syndrome, Noonan Syndrome, and SHOX Gene Mutations

This chapter will address several disorders characterized by varying degrees of growth failure. Turner syndrome (TS) is one of the most common human sex chromosome anomalies, occurring in about 1:2000 female live births. Girls with TS have an abnormal or missing X chromosome plus a phenotype that includes short stature, lymphedema, cardiac abnormalities, gonadal dysgenesis, and neurocognitive problems. Noonan syndrome (NS) is an autosomal dominant condition with a prevalence of 1 in 1000–2500 and part of a group of disorders known as RASopathies. Noonan syndrome occurs in both boys and girls. In addition to varying degrees of short stature, features also include congenital heart defects, facial dysmorphisms, and mild intellectual disabilities. Defects in the short stature homeobox-containing gene on the X chromosome (SHOX) lead to a variety of short-stare conditions: non-syndromic short stature and Leri-Weill dyschondrosteosis (LWD), both due to SHOX haploinsufficiency. Homozygous loss of SHOX leads to Langer mesomelic dysplasia, a rare form of a skeletal dysplasia.