Although it has been the topic of intense medical and surgical attention for over 50 years, coarctation of the aorta continues to be a major cause of cardiovascular morbidity and mortality in infants and children. Refinements in established diagnostic modalities--primarily fetal, transesophageal, and intravascular echocardiography--have improved pre- and post-treatment assessments. Aggressive and early intervention, whether by surgery, catheter, or both, have been shown to increase initial success; the results of long-term follow-up are yet to be determined. The best possible outcome requires prompt recognition and effective treatment directed at immediate gradient relief, which will hopefully prevent or reduce the known late and long-term sequelae.
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http://dx.doi.org/10.1097/00001573-199509000-00014 | DOI Listing |
Acta Paediatr
January 2025
Department of Pediatric Cardiology, Queen Silvia Children's Hospital at the Sahlgrenska University Hospital, Gothenburg, Sweden.
Aim: Newborn infants with critical aortic arch obstruction are often undiagnosed at discharge, despite screening. This study investigated if adding the perfusion index improved early detection.
Methods: We retrospectively studied 38 newborn infants with critical aortic arch obstruction, who were routinely screened in 2014-2019 by 13 Swedish hospitals using pulse oximetry and the perfusion index.
Eur J Hum Genet
January 2025
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
The etiology of congenital heart disease (CHD) is complex, comprising both genetic and environmental factors. Despite documented familial occurrences, the genetic etiology remains largely elusive. Trio exome sequencing identified a heterozygous FLT4 splice site variant in two families with respectively tetralogy of Fallot (TOF), and variable CHD comprising both the TOF spectrum and aortic coarctation.
View Article and Find Full Text PDFFront Pharmacol
January 2025
Respiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the gene, resulting in variable clinical manifestation and multi-organ dysfunction. Interstitial lung disease (ILD) is a rare phenotype of this condition. We describe a rare infant case of an 8-month-old boy who presented with progressively worsening dyspnea, along with intermittent episodes of respiratory distress and cyanosis since birth.
View Article and Find Full Text PDFLife (Basel)
January 2025
Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Desmoid tumors are a rare entity, especially in the pediatric population. There are no reports of such a tumor in newborns. They are associated with high rates of morbidity and mortality, even though they are benign soft tissue tumors.
View Article and Find Full Text PDFOpen Heart
January 2025
Department of Cardiac Surgery, University Hospital Erlangen, Erlangen, Bayern, Germany
Background: Aortic coarctation (CoA) is a congenital anomaly leading to upper-body hypertension and lower-body hypotension. Despite surgical or interventional treatment, arterial hypertension may develop and contribute to morbidity and mortality. Conventional blood pressure (BP) measurement methods lack precision for individual diagnoses and therapeutic decisions.
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