Surgical outcomes of common arterial trunk repair beyond infancy.

Background: The aim of this study is to analyze the clinical outcomes of common arterial trunk repair beyond infancy in terms of both early- and long-term outcomes.

Methods: Between January 2003 and December 2019, 56 patients underwent repair for common arterial trunk beyond infancy at our institute. Median age was 34.

Outcomes of Venus P-valve for dysfunctional right ventricular outflow tracts from Indian Venus P-valve database.

Background: Balloon-expandable pulmonary valves are usually not suitable for dilated native outflow tracts.

Methods: Indian Venus P-valve registry was retrospectively analyzed for efficacy, complications, and midterm outcomes. Straight valve was used in prestented conduits in patients with right ventricular pressure above two-thirds systemic pressure and/or right ventricular dysfunction.

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.

Marfan syndrome and related disorders are a group of heritable connective tissue disorders and share many clinical features that involve cardiovascular, skeletal, craniofacial, ocular, and cutaneous abnormalities. The majority of affected individuals have aortopathies associated with early mortality and morbidity. Implementation of targeted gene panel next-generation sequencing in these individuals is a powerful tool to obtain a genetic diagnosis.

Effect of dexmedetomidine on pulmonary artery pressure in children with congenital heart disease and pulmonary hypertension.

Background: This study was undertaken to determine the effects of dexmedetomidine on pulmonary artery pressure (PAP) in children with congenital heart disease (CHD) and pulmonary hypertension (PH) undergoing cardiac catheterization with and without a planned intervention during monitored anesthetic care using midazolam and ketamine.

Materials And Methods: Children (<18 years) with known CHD and PH who were scheduled for cardiac catheterization and interventional procedures were included in the study. The procedures were performed under monitored anesthesia.

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Neurodevelopmental disorders (NDD) are genetically and phenotypically heterogeneous conditions due to defects in genes involved in development and function of the nervous system. Individuals with NDD, in addition to their primary neurodevelopmental phenotype, may also have accompanying syndromic features that can be very helpful diagnostically especially those with recognizable facial appearance. In this study, we describe ten similarly affected individuals from six unrelated families of different ethnic origins having bi-allelic truncating variants in TMEM94, which encodes for an uncharacterized transmembrane nuclear protein that is highly conserved across mammals.

Meandering pulmonary veins mimicking scimitar syndrome.

Scimitar or pulmonary venolobar syndrome, a rare pulmonary anomaly, consists basically of anomalous pulmonary venous drainage of the right lung to the inferior caval vein, anomalous systemic arterial supply to the right lower lobe from the descending aorta, hypoplasia of the right lung, and dextroposed heart. We present a rare case with constellation of all these findings of scimitar syndrome, but with the aberrant pulmonary vein draining into the left atrium.