Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.

BACKGROUND: Most periventricular nodular heterotopias (PNHs) are associated with a mutation in the filamin A (FLNA) gene in Xq28. This condition is associated with cardiovascular malformations, connective tissue abnormalities, epilepsy, and intellectual deficiency of varying severity. MATERIALS AND METHODS: We report a new FLNA gene mutation in a male patient associated with PNH and diffuse interstitial lung disease. RESULTS: A 23-year-old woman was referred at 31 gestational weeks to evaluate a suspected mega cisterna magna and ventricular septal defect with atrioventricular valve alignment in a male fetus. The fetal magnetic resonance imaging showed PNH associated with corpus callosum dysgenesis and a mega cisterna magna. At 2 months of age, the infant was diagnosed with severe respiratory distress with hypoxemia. A chest CT scan demonstrated a diffuse interstitial lung pattern with emphysema, multiple atelectasis foci, and signs of pulmonary hypertension. Rapid worsening led to his death at 4 months. Targeted sequencing of the FLNA gene identified a de novo hemizygous variant in 75% mosaic in lymphocyte cells, resulting in incomplete FLNA function loss. DISCUSSION & CONCLUSION: On the diagnosis of antenatal PNH, the possibility of such lung involvement should be considered in the prognostic evaluation during prenatal counseling.

Impact of cardiac surgical timing on the neurodevelopmental outcomes of newborns with Complex congenital heart disease (CHD).

Background: More than half of infants with complex congenital heart disease (CHD) will have a neurodevelopmental disorder of multifactorial causes. The preoperative period represents a time-window during which neonates with complex CHD are in a state of hypoxia and hemodynamic instability, which fosters the emergence of brain injuries and, thus, affects early brain networks and neurodevelopmental outcomes. Currently, there is no consensus regarding the optimal age for cardiac surgery in terms of neurodevelopmental outcomes, and its definition is a real challenge. Our aim is to determine the relationship between cardiac surgical timing and long-term neurodevelopmental outcomes for various types of complex CHD. Methods: We hypothesize that earlier surgical timing could represent a neuroprotective strategy that reduces perioperative white matter injuries (WMIs) and postoperative morbidity, leading to improved neurodevelopmental outcomes in infants with complex CHD. Firstly, our prospective study will allow us to determine the correlation between age at the time of surgery (days of life) and neurodevelopmental outcomes at 24 months. We will then analyze the correlation between age at surgery and (i) the incidence of WMIs (through pre- and postoperative MRIs), (ii) postoperative morbidity, and (iii) the duration of the hospital stay. Implications and Dissemination: This research protocol was registered in the Clinical Trial Registry (National Clinical Trial: NCT04733378). This project aims to help launch the first Neurocardiac Investigation Clinic in Marseille - AP-HM - to propose an overall personalized monitoring and treatment program for patients operated on for complex CHD.

Template for Diced Cartilage with Platelet-Rich Fibrin (PRF) in Rhinoplasty: An Easy Solution for Millimetric Camouflage of the Full Dorsal Esthetic Unit.

Dorsal irregularities are one of the most common issues in modern rhinoplasty. Rhinoplasty surgeons propose placing interface grafts lining the hole dorsum to ensure a natural unoperated look. Diced cartilage embedded in Choukroun's platelet-rich fibrin (PRF) scaffold being one of the most recent innovations in the field. However, no method has been described to help with the creation of thin, malleable, and reproductive graft with millimetric precision using that technique. The senior author details his protocol and his experience with a newly developed template for the creation of reproductive grafts with standard size and thickness, using diced cartilage, injectable PRF (iPRF), and advanced PRF (aPRF), for full dorsal camouflage and lining in rhinoplasty. This retrospective case series was conducted to evaluate the results looking at the dorsal esthetic unit at a minimum of 6 months for patients who beneficiated from a millimetric dorsal augmentation from 1 to 2mm using diced cartilage with iPRF and aPRF. The author reports his experience with 54 cases operated from April 2018 to May 2022 using his newly developed template.The template is an innovative technique to allow faster and more reliable fabrication of soft grafts using diced cartilage with both iPRF and aPRF. This novel approach allows for millimetric dorsal augmentation from 1 to 2mm with great precision and high reproductivity with good esthetic outcome.

Ventricular septal defect with anomalous origin of the left descending coronary artery from the right sinus of Valsava and an intraseptal course.

Patients with anomalous aortic origin of the left anterior descending coronary artery (AAOCA) from the right sinus of Valsava, and associated with a trans-septal course, are recommended for surgery only when symptoms of ischemia are present. The transconal unroofing method is straightforward and provides good anatomic result. In absence of significant coronary compression, surgical management of the trans-septal coronary course is proposed if the patient is a candidate to cardiac surgery for another reason, such as congenital heart disease. We describe a transconal approach in a patient with a trans-septal coronary artery and a ventricular septal defect.