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J Cardiovasc Dev Dis
January 2025
Neonatal Intensive Care Unit, Azienda Ospedaliera Universitaria Integrata Verona, 37126 Verona, Italy.
We aimed to evaluate the accuracy and reproducibility of right ventricular output (RVO) using different anatomical landmarks: the internal pulmonary valve diameter (PVD) between the valve hinge points (hinge-PVD) according to the traditional technique, and PVD between the valve leaflet tips (tip-PVD). This was a retrospective analysis of prospective collected data. All neonates with echocardiographic measurements of RVO and left ventricular output (LVO) without congenital heart disease, including patent ductus arteriosus and patent foramen ovale > 3 mm, were included.
View Article and Find Full Text PDFFront Genet
January 2025
Human Genetics Department, School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.
Background: Delays in diagnosing rare genetic disorders often arise due to limited awareness and systemic challenges in primary care. This case highlights the importance of a holistic approach to patient care, encompassing timely detection and comprehensive evaluation of clinical features.
Methods: We report the case of a 21-year-old Ecuadorian male with facial and hand dysmorphias, cardiomegaly, pulmonary hypertension, and patent ductus arteriosus (PDA).
Zhonghua Er Ke Za Zhi
January 2025
Heart Center, Women and Children's Hospital, Qingdao University, Qingdao266034, China.
Cureus
December 2024
Paediatrics, Maternity and Children Hospital, AlAhsa, SAU.
Background Maternal diabetes mellitus (DM) is a known risk factor for congenital heart diseases (CHDs), which are of significant concern to infants born to diabetic mothers. Compared to newborns born to non-diabetic mothers, infants born to diabetic mothers had a higher overall risk of developing congenital malformations. This association has a complex pathophysiology that includes genetic predispositions, metabolic abnormalities, and environmental factors during key stages of fetal development.
View Article and Find Full Text PDFBackground: Congenital cardiac defects are defined in cases with the deletion of the short arm of chromosome 5 and the duplication of the long arm of chromosome 4. Septal defects and patent ductus arteriosus are among the most common defects reported in the literature.
Case: We reported on a case with a complex congenital cardiac defect, dysmorphic facial features, cat-like cry, hypotonia, hyporeflexia, weak swallowing and sucking, limb anomalies, and bilateral undescended testicles.
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