Young adults with congenital heart disease heading to college: Are college health centers and providers prepared? Oct. 1, 2023 This study highlights some challenges to providing care to students with chronic conditions like CHD. More collaborative relationships with specialists may be critical to ensuring that all the care needs of chronic disease students are met on college campuses. Read full text
DMD gene and phenotypes associated with mutations June 1, 2023 We performed a systematic review assessing research related to genotype-phenotype correlations in DBMD. While there are severity differences across the spectrum and within mild and severe forms of DBMD, few protective or exacerbating mutations within the dystrophin gene were reported. Except for intellectual disability, clinical test results reporting genotypic information are insufficient for clinical prediction of severity and comorbidities and the predictive validity is too low to be useful when advising families. Including expanded information coupled with proposed severity predictions in clinical genetic reports for DBMD is critical for improving anticipatory guidance. Read full text
Cardiology Care and Loss to Follow-Up Among Adults With Congenital Heart Defects in CH STRONG May 4, 2023 Half of our sample were LTF and more than 45% had not received cardiology care in over 5 years. Of those who received care, only 1 in 3 saw an adult CHD physician at their last encounter. Not knowing they needed to see a cardiologist, being told they no longer needed cardiology care, and feeling "well" were the top reasons for LTF, and only half of respondents report doctors discussing the need for cardiac follow-up. Read full text
Ehlers Danlos Syndrome Research Feb. 27, 2023 We are collecting symptom information recorded by the physicians in notes during visits as well as performing depth interviews with participants on all symptoms experienced regardless of whether or not they have sought medical care for those symptoms. Read more Image
ECMO in adults with congenital heart disease - Analysis of a national discharge database March 28, 2022 Adults with CHD who require ECMO have longer hospitalizations and more complications than adults without CHD who require ECMO. ECMO for adults with CHD appears related to surgical admissions, compared to ECMO for adults without CHD, which appears related to acquired diseases. These data highlight the implications of ECMO for adults with CHD and their potential perioperative fragility. Read full text
Differentiation of Pediatric-Onset Duchenne and Becker Muscular Dystrophy Subphenotypes Using the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) Jan. 4, 2022 Individuals with dystrophinopathies have heterogenous clinical presentations that cluster into phenotypically similar groups. Use of clinically-derived phenotyping may provide a clearer understanding of disease trajectories, reduce variability in study results, and prevent exclusion of certain cohorts from analysis. Findings from studying subphenotypes may ultimately improve our ability to predict disease progression. Read full text
Contemporary pregnancy outcomes for women with moderate and severe congenital heart disease Dec. 9, 2021 Pregnant women with CHD have more problematic pregnancies and understanding this impact is important to improve management and decrease healthcare utilization. Read more
Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders April 7, 2021 People with hypermobility experience a variety of physical and somatic symptoms, especially in the areas of fatigue, kinesiophobia, gastrointestinal, and autonomic function. These cause a significant decrease in health-related quality of life. The frequency and severity of most symptoms were indistinguishable between participants with hEDS and HSD; however, there were significant differences in autonomic symptoms. Less than 20% of participants had autoantibodies known to be associated with dysautonomia. Subtle symptomatic differences in people meeting the 2017 diagnostic criteria suggest focusing further etiologic studies on autonomic pathways. Read more
Exercise Performance in Adolescents With Fontan Physiology (from the Pediatric Heart Network Fontan Public Data Set) March 21, 2021 Age- and sex-based exercise performance for adolescents with Fontan physiology are predictably low, but there are additional significant decreases through adolescence for this population, especially in females. We have established normative exercise values for several parameters for this population which will better identify at risk patients and allow for earlier intervention. Read full text
Effect of comorbid neuropsychiatric disorders on children and adolescents undergoing surgery for moderate and severe congenital heart disease Aug. 25, 2020 Children and adolescents with moderate or severe CHD and NPD who undergo cardiac surgery incur longer hospital stays and higher charges. Recognizing and addressing the underlying NPDs may be important to improve postoperative progression for children and adolescents with CHD hospitalized for cardiac surgery. Read full text