Williams Syndrome: Supravalvar Aortic, Aortic Arch, Coronary and Pulmonary Arteries: Is Comprehensive Repair Advisable and Achievable?

Williams syndrome, and various elastin protein mediated arteriopathies, presents a clinical challenge to pediatric cardiovascular specialists. In the severest phenotypes, multilevel obstruction to the systemic and pulmonic arterial systems result in biventricular dysfunction which can be imminently life-threatening. As a longstanding, quaternary referral center for complex pulmonary arteriopathies and pediatric connective tissue disease, Stanford Medicine Children's Health has developed a sizeable experience managing these patients.

Can 10 000 Healthy Steps a Day Slow Aortic Root Dilation in Pediatric Patients With Marfan Syndrome?

Background Stiffer aortas are associated with a faster rate of aortic root (AoR) dilation and higher risk of aortic dissection in patients with Marfan syndrome. We have previously shown that mild aerobic exercise reduces aortic stiffness and rate of AoR dilation in a Marfan mouse model. In this study, we investigated if these results could be translated to pediatric patients with Marfan syndrome.

A clinical scoring system for early onset (neonatal) Marfan syndrome.

Purpose: This study aimed to develop objective diagnostic criteria for early onset Marfan syndrome (eoMFS) to facilitate early diagnosis and timely interventions.

Methods: On the basis of an extensive literature review and the responses from a survey distributed among providers with expertise in the diagnosis and management of eoMFS, we developed an age-based, diagnostic scoring system encompassing 10 features common to eoMFS (9 clinical + 1 laboratory) and divided them into cardiac, systemic, and FBN1 (on the basis of the location of the pathogenic FBN1 variant) scores.

Results: In total, 77 individuals with eoMFS (13 newly reported) and 49 individuals diagnosed with classical Marfan syndrome during early childhood were used to validate the criteria.

Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.

Kosaki overgrowth syndrome is a recently described syndrome characterized by distinctive facial features, brain white matter lesions, and developmental delay. Germline activating heterozygous PDGFRB mutations have been reported in this condition. Systemic connective tissue-type findings have been described in some individuals.

Risk factors associated with the development of double-inlet ventricle congenital heart disease.

Background: Congenital heart disease (CHD) is the most common birth defect group and a significant contributor to neonatal and infant death. CHD with single ventricle anatomy, including hypoplastic left heart syndrome (HLHS), tricuspid atresia (TA), and various double-inlet ventricle (DIV) malformations, is the most complex with the highest mortality. Prenatal risk factors associated with HLHS have been studied, but such data for DIV are lacking.

Resource Utilization Among Adult Congenital Heart Failure Admissions in Pediatric Hospitals.

We sought to analyze the trends and resource utilization of adult congenital heart disease (ACHD)-related heart failure admissions at children's hospitals. Heart failure admissions in patients with ACHD continue to rise at both pediatric and adult care facilities. Data from the Pediatric Health Information Systems database (2005 to 2015) were used to identify patients (≥18 years) admitted with congenital heart disease (745.

Cardiovascular imaging in Turner syndrome: state-of-the-art practice across the lifespan.

Cardiovascular imaging is essential to providing excellent clinical care for girls and women with Turner syndrome (TS). Congenital and acquired cardiovascular diseases are leading causes of the lifelong increased risk of premature death in TS. Non-invasive cardiovascular imaging is crucial for timely diagnosis and treatment planning, and a systematic and targeted imaging approach should combine echocardiography, cardiovascular magnetic resonance and, in select cases, cardiac CT.

The impact of body weight on the diagnosis of aortic dilation-misdiagnosis in overweight and underweight groups.

Background: Body surface area (BSA)-indexed Z-scores are used to assess the ascending aorta (AAo) and diagnose aortic dilation (AoD) in children. BSA is directly related to body weight and corresponds to body mass index (BMI). We hypothesized extremes in BMI alter interpretation of aortic size in pediatric patients with AoD.

Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use.

Extracardiac arterial stenoses are not uncommon in Williams syndrome (WS); however, data on the utility of advanced cardiovascular imaging (CVI) to assess these stenoses are lacking. We retrospectively reviewed the frequency, indication, and diagnostic outcomes of CVI modalities performed in patients with WS evaluated at a single institution between 2001 and 2014. Data were collected and analyzed from 34 patients (56% female) who underwent CVI during the study period.

Risk Factors for Increased Hospital Resource Utilization and In-Hospital Mortality in Adults With Single Ventricle Congenital Heart Disease.

Most patients with single ventricle congenital heart disease are now expected to survive to adulthood. Co-morbid medical conditions (CMCs) are common. We sought to identify risk factors for increased hospital resource utilization and in-hospital mortality in adults with single ventricle.

Adverse cardiac events in children with Williams syndrome undergoing cardiovascular surgery: An analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database.

Objective: Patients with Williams syndrome (WS) undergoing cardiac surgery are at risk for major adverse cardiac events (MACE). Prevalence and risk factors for such events have not been well described. We sought to define frequency and risk of MACE in patients with WS using a multicenter clinical registry.

Extracorporeal membrane oxygenation for respiratory failure in the elderly: a review of the Extracorporeal Life Support Organization registry.

Extracorporeal membrane oxygenation (ECMO) support among adults is increasing; however, the role in respiratory failure in the elderly is not clearly defined. The aim of the current study is to investigate survival to hospital discharge among the elderly supported on ECMO. The Extracorporeal Life Support Organization registry database was queried, identifying all elderly patients (≥65 years of age) supported on ECMO for respiratory failure from 1990 to May 2013.

Primary purulent pericarditis and secondary endocarditis: a case report.

Purulent pericarditis is a rare diagnosis to be made. It is exceedingly rare as a primary infection. We describe the case of an 18-month-old boy who presented with primary purulent pericarditis and developed a secondary endocarditis.

Duplication of the ALDH1A2 gene in association with pentalogy of Cantrell: a case report.

Introduction: The pentalogy of Cantrell is rare clustering of congenital defects, first described by Cantrell and colleagues in 1958. The exact pathogenesis for the pentalogy remains unknown and no specific genetic abnormalities have been correlated; however, a failure of embryogenesis has been suspected. The microduplication of chromosome 15q21.

Noninvasive assessment of subclinical atherosclerosis in children and adolescents: recommendations for standard assessment for clinical research: a scientific statement from the American Heart Association.

Deterioration in endothelial function and arterial stiffness are early events in the development of cardiovascular diseases. In adults, noninvasive measures of atherosclerosis have become established as valid and reliable tools for refining cardiovascular risk to target individuals who need early intervention. With limited pediatric data, the use of these techniques in children and adolescents largely has been reserved for research purposes.