Background: Aortic coarctation has been associated with generalized vascular disease, yet little is known about retinal vascular patterns and their changes over time.
Objectives: The aim of this study is to characterize the nature and extent of retinal vascular disease in adults with aortic coarctation, and explore age-related effects and associations with cardiovascular outcomes.
Methods: A prospective cross-sectional seroepidemiological study was conducted on 60 consecutive adults with repaired aortic coarctation, age 42.4±14.1 years, 61.7% male. In addition to detailed questionnaires, imaging studies, and laboratory testing, high-quality retinal images were acquired by 45° nonmydriatic digital funduscopy.
Results: No patient had evidence of hypertensive retinopathy. A distinctive vascular pattern characterized by bilaterally symmetric tortuosity of retinal arteries and veins was observed. Arterial tortuosity was abnormal in 98.3% of patients and decreased with age (P=0.0005). In patients≥45 years, a 1-point increase in the arterial tortuosity score was associated with a 1.5-fold higher risk of cardiovascular complications (i.e., acute coronary syndrome, stroke, cerebral aneurysm, aortic dissection/rupture) [odds ratio 1.50, 95% CI (1.01, 2.24), P=0.0496]. Abnormal venous tortuosity was present in 75.0% of patients and non-significantly correlated with higher levels of serum inflammatory markers (C-reactive protein, fibrinogen, interleukin-6, and tumor necrosis factor-alpha). A higher venous tortuosity score was likewise associated with an increased risk of cardiovascular complications [odds ratio 1.86, 95% CI (1.03, 3.35), P=0.0392].
Conclusions: Adults with repaired aortic coarctation exhibit a unique retinal vascular pattern characterized by excessive arterial and venous tortuosity that regresses with age. Greater tortuosity is associated with adverse cardiovascular outcomes in patients≥45 years.
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http://dx.doi.org/10.1016/j.ijcard.2014.03.129 | 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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