A5030359461- Congenital Heart Disease Studies
- Congenital heart defects research
- Cardiovascular Conditions and Treatments
- Cardiovascular Issues in Pregnancy
- Vascular anomalies and interventions
- Assisted Reproductive Technology and Twin Pregnancy
- Mechanical Circulatory Support Devices
- Sexual Differentiation and Disorders
- Connective tissue disorders research
- Coronary Artery Anomalies
- Congenital Diaphragmatic Hernia Studies
- LGBTQ Health, Identity, and Policy
- Genomic variations and chromosomal abnormalities
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Children's Hospital of Philadelphia
2008-2025
University of Pennsylvania
2008-2019
Philadelphia University
2008
Abstract Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4 . Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Syndrome Clinic (2016–2023) and collaborating specialists have facilitated deep phenotyping, genotyping natural history analysis. Of 47 patients (four previously reported), most (81%) returned to MGH least once. For followed for 5 years, symptom progression...
Objective: To define the modes of presentation, incidence major organ dysfunction, predictors hospital mortality, and adverse outcomes in neonates with critical heart disease admitted to a tertiary care center. Design: Retrospective chart review. Setting: A pediatric cardiac intensive unit neonatal unit. Patients: The medical records for all (≤30 days age) or between October 1, 2002, September 30, 2003, were reviewed. Interventions: None. Measurements Main Results: total 190 met inclusion...
To address knowledge gaps about Turner syndrome (TS) associated disease mechanisms, the Syndrome Society of United States created Research Registry (TSRR), a patient‐powered registry for girls and women with TS. More than 600 participants, parents or guardians completed 33‐item foundational survey that included questions demographics, medical conditions, psychological sexuality, hormonal therapy, patient provider TS, satisfaction. The TSRR platform is engineered to allow individuals living...
Tetralogy of Fallot (ToF) can be associated with a wide range extracardiac anomalies, an underlying etiology identified in approximately 10% cases. Individuals affected Myhre syndrome due to recurrent SMAD4 mutations frequently have cardiovascular including congenital heart defects. In addition two patients the literature ToF, we describe five additional individuals and classic ToF pulmonary atresia multiple aorto-pulmonary collaterals, absent valve. Aorta hypoplasia was documented one...
Central MessageFirst report of cardiac surgery utilizing cardiopulmonary bypass with deep hypothermic circulatory arrest in 1 neonate and extracorporeal membrane oxygenation support the other unseparated, pyopagus conjoined twin.See Commentaries on pages 303 305. First twin. See Previous reports twins describe using no or a single unseparated twin operations previously separated twins.1Tirotta C.F. Lagueruela R. Munro H.M. Zahn E.M. Lopez L. Burke R.P. Anesthetic management presenting for...