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RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease.
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 PDFCase report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.
Front 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 PDFA Rare Case of Neonatal Desmoid Tumor Leading to Severe Aortic Coarctation: Review of Literature and Case Report.
Life (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 PDFArtificial intelligence-based, non-invasive assessment of the central aortic pressure in adults after operative or interventional treatment of aortic coarctation.
Open 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.
View Article and Find Full Text PDFPrenatal Diagnosis of Berry Syndrome by Fetal Echocardiography.
Ultrasound Q
March 2025
Department of Echocardiography, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, 230001, China.
Berry syndrome is a rare combination of cardiac malformations, which is characterized by the following malformations, including the aortopulmonary window, aortic right pulmonary origin, interrupted aortic arch or hypoplastic aortic arch or coarctation of the aorta, and an intact ventricular septum. There are few reviews on prenatal diagnosis of Berry syndrome by fetal echocardiography. We used sequential cross-sectional scanning from apex to bottom of the heart to find aortic right pulmonary origin, aortopulmonary window, and hypoplastic aortic arch.
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