Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.
Gioia MastromoroGiulio CalcagniPaolo VersacciCarolina PutottoMarcello ChinaliCaterina LambiaseMarta UnoltElena PelliccioneSilvia AnaclerioCinzia CaprioSara CioffiMarchesa BilioAnwar BabanFabrizio DragoMaria Cristina DigilioBruno MarinoAntonio BaldiniPublished in: PloS one (2019)
Children with 22q11.2DS without cardiac defects show smaller LPA compared with healthy subjects. Mouse studies suggest that this anomaly is due to haploinsufficiency of Tbx1. These data may be useful in the clinical management of children with 22q11.2DS and should guide further experimental studies as to the mechanisms underlying PAs development.
Keyphrases
- pulmonary artery
- pulmonary hypertension
- left ventricular
- ejection fraction
- end stage renal disease
- coronary artery
- young adults
- pulmonary arterial hypertension
- newly diagnosed
- chronic kidney disease
- prognostic factors
- peritoneal dialysis
- case control
- mitral valve
- electronic health record
- heart failure
- machine learning
- case report
- big data
- patient reported outcomes
- insulin resistance
- patient reported