Objectives: Patients with hypoplastic left heart syndrome are at risk for neurodevelopmental impairment. Hypoxic-ischemic brain injury during neonatal treatment might be a relevant cause. We evaluated the association between cerebral oxygenation in the perioperative course of the Norwood procedure and neurodevelopmental outcome.
Methods: Cerebral tissue oxygen saturation (ScO2) was obtained by near-infrared spectroscopy for 24 hours before and 48 hours after surgery in 43 patients. Full-scale, verbal, and performance IQ scores were evaluated with the Wechsler Preschool and Primary Scale of Intelligence at a median of 4.5 years (range, 3.5-6.8 years). Cognitive functions were assessed with the German Kognitiver Entwicklungstest für das Kindergartenalter (KET-KID).
Results: Mean IQ scores and KET-KID percentile ranks were in the lower-normal range (full-scale IQ, 94 ± 11; verbal IQ, 97 ± 13; performance IQ, 93 ± 9; KET-KID global, 42 ± 27; verbal, 48 ± 29; nonverbal, 37 ± 23). Scores were below average (full scale IQ <85 or KET-KID <16th percentile) in 12 cases. Mean preoperative ScO2 was lower in patients scoring below average (56.8% ± 7.1% vs 61.7% ± 5.8%; P = .028) and was correlated with full-scale IQ (r = 0.495; P = .001), verbal IQ (r = 0.524; P = .001), and performance IQ (r = 0.386; P = .012) scores, and with global (r = 0.360; P = .018) and verbal (r = 0.395, P = .009) KET-KID scores. A relationship between IQ or KET-KID scores and postoperative ScO2 was not found. Gestational age, head circumference z-score, age at surgery, and postoperative length of stay were associated with IQ and KET-KID scores.
Conclusions: Neurodevelopmental outcome was in the lower-normal range. Along with innate patient factors, preoperative cerebral tissue oxygenation is likely an important determinant of cognitive development.
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http://dx.doi.org/10.1016/j.jtcvs.2016.02.035 | DOI Listing |
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFAnn Thorac Surg
January 2025
Division of Cardiothoracic Surgery, University of Utah Health, Salt Lake City, UT. Electronic address:
Background: Prior investigations of the center-specific case volume on outcomes in hypoplastic left heart syndrome have conflicting results. This study utilized the National Pediatric Cardiology Quality Improvement Collaborative (NPC-QIC) registry to investigate the center volume-outcome relationship in patients following the Norwood procedure with consideration of pre-operative high-risk features.
Methods: Between 2016 and 2023, centers were categorized by Norwood procedure volume into low (≤ 5 cases/year), medium (6 to 10 cases/year), and high-volume centers (> 10 cases/year).
Cureus
December 2024
Department of Neurosurgery, Southmead Hospital, North Bristol NHS Trust, Bristol, GBR.
The occipital sinus is often thought of as a redundant vestigial structure in adults. However, in rare cases, it can form the dominant route of intracerebral venous drainage, with a risk of significant surgical morbidity if unrecognised. We present an illustrative case describing this anatomical variant and tailoring of a midline suboccipital craniotomy to allow resection of a fourth ventricular epidermoid tumour with preservation of a dominant occipital sinus, and a review of the published literature.
View Article and Find Full Text PDFRev Paul Pediatr
January 2025
Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.
Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case of hypoplastic left heart syndrome and minor dysmorphic features associated with 3p- syndrome.
View Article and Find Full Text PDFPediatr Cardiol
January 2025
Fetal Heart Program, Division of Cardiology. Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
The IMmediate Postpartum Access to Cardiac Therapy (IMPACT) procedure is a multidisciplinary, collaborative, highly coordinated clinical service in which a planned delivery and intensive neonatal care are offered for conditions where there is a high likelihood of postnatal instability. This process includes prenatal consultation with the parent(s), involving each service engaged with the delivery, postnatal resuscitation, and procedural care. A Cesarean section delivery is planned in an operating room with immediate access to a multifunctional procedural suite where the neonate can undergo rapid cardiac evaluation and initiation of interventional treatments which can have a positive, life-saving impact.
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