Diagn\uf3stico diferencial y estrategia en soplos cardiacos en lactantes a t\ue9rmino

En este art\uedculo se revisan el diagn\uf3stico diferencial y la estrategia en un soplo cardiaco en el lactante a t\ue9rmino. Despu\ue9s de abordar los aspectos importantes del interrogatorio y los ex\ue1menes f\uedsico y cardiaco, se comentan las lesiones estructurales del coraz\uf3n m\ue1s comunes que originan un soplo cardiaco en lactantes a t\ue9rmino

A Systematic Review of Ebstein’s Anomaly with Left Ventricular Noncompaction

Traditional definitions of Ebstein’s anomaly (EA) and left ventricular noncompaction (LVNC), two rare congenital heart defects (CHDs), confine disease to either the right or left heart, respectively. Around 15–29% of patients with EA, which has a prevalence of 1 in 20,000 live births, commonly manifest with LVNC. While individual EA or LVNC literature is extensive, relatively little discussion is devoted to the joint appearance of EA and LVNC (EA/LVNC), which poses a higher risk of poor clinical outcomes. We queried PubMed, Medline, and Web of Science for all peer-reviewed publications from inception to February 2022 that discuss EA/LVNC and found 58 unique articles written in English. Here, we summarize and extrapolate commonalities in clinical and genetic understanding of EA/LVNC to date. We additionally postulate involvement of shared developmental pathways that may lead to this combined disease. Anatomical variation in EA/LVNC encompasses characteristics of both CHDs, including tricuspid valve displacement, right heart dilatation, and left ventricular trabeculation, and dictates clinical presentation in both age and severity. Disease treatment is non-specific, ranging from symptomatic management to invasive surgery. Apart from a few variant associations, mainly in sarcomeric genes MYH7 and TPM1, the genetic etiology and pathogenesis of EA/LVNC remain largely unknown

A Systematic Review of Ebstein’s Anomaly with Left Ventricular Noncompaction

Traditional definitions of Ebstein’s anomaly (EA) and left ventricular noncompaction (LVNC), two rare congenital heart defects (CHDs), confine disease to either the right or left heart, respectively. Around 15–29% of patients with EA, which has a prevalence of 1 in 20,000 live births, commonly manifest with LVNC. While individual EA or LVNC literature is extensive, relatively little discussion is devoted to the joint appearance of EA and LVNC (EA/LVNC), which poses a higher risk of poor clinical outcomes. We queried PubMed, Medline, and Web of Science for all peer-reviewed publications from inception to February 2022 that discuss EA/LVNC and found 58 unique articles written in English. Here, we summarize and extrapolate commonalities in clinical and genetic understanding of EA/LVNC to date. We additionally postulate involvement of shared developmental pathways that may lead to this combined disease. Anatomical variation in EA/LVNC encompasses characteristics of both CHDs, including tricuspid valve displacement, right heart dilatation, and left ventricular trabeculation, and dictates clinical presentation in both age and severity. Disease treatment is non-specific, ranging from symptomatic management to invasive surgery. Apart from a few variant associations, mainly in sarcomeric genes MYH7 and TPM1, the genetic etiology and pathogenesis of EA/LVNC remain largely unknown

Impact of reintervention during stage 1 palliation hospitalization: A national, multicenter study

Background: Stage 1 palliation (S1P) for hypoplastic left heart syndrome remains associated with high morbidity and mortality. Prior studies on burden of reinterventions do not include patients who remain hospitalized prior to stage 2 palliation (S2P). This study describes the rate of reintervention during S1P hospitalization and seeks to determine the impact of reintervention on outcomes. Methods: All participants enrolled in Phase II of the National Pediatric Cardiology Quality Improvement Collaborative post-S1P are included in this study. Primary outcome is rate of reintervention during hospitalization post-S1P prior to hospital discharge or S2P. Reintervention is defined as one or more unplanned interventional cardiac catheterizations and/or surgical reoperations. Results: Between 3/1/16-10/1/19, 1367 participants underwent S1P and 339 (24.8%) had a reintervention; most commonly to address the source of pulmonary blood flow. Gestational age, weight at S1P, atrioventricular septal defect, heterotaxy, pre-operative pulmonary artery bands, hybrid S1P and an additional bypass run or early extracorporeal membrane oxygenation were significantly associated with reintervention. Participants in the reintervention group experienced higher rates for nearly all postoperative complications, were less likely to be discharged prior to S2P (57.1% vs 86%, p\u3c 0.001) and more likely to suffer in-hospital mortality (17% vs 5%, p\u3c0.001). Conclusions: Unplanned reintervention during hospitalization following S1P palliation occurred in 25% of participants in a large, registry based national cohort. Participants who underwent reintervention were more likely to remain inpatient and less likely to survive to S2P. Reintervention was associated with a multitude of postoperative complications that impact survival and long-term outcome

Novel KLHL26 variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction

Abstract Background Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sarcomere genes in some cases, very little is understood regarding the genetic etiology of EA/LVNC. Our study describes a multigenerational family with at least 10 of 17 members affected by EA/LVNC. Methods We performed echocardiography on all family members and conducted exome sequencing of six individuals. After identifying candidate variants using two different bioinformatic strategies, we confirmed segregation with phenotype using Sanger sequencing. We investigated structural implications of candidate variants using protein prediction models. Results Exome sequencing analysis of four affected and two unaffected members identified a novel, rare, and damaging coding variant in the Kelch‐like family member 26 (KLHL26) gene located on chromosome 19 at position 237 of the protein (GRCh37). This variant region was confirmed by Sanger sequencing in the remaining family members. KLHL26 (c.709C > T p.R237C) segregates only with EA/LVNC‐affected individuals (FBAT p < .05). Investigating structural implications of the candidate variant using protein prediction models suggested that the KLHL26 variant disrupts electrostatic interactions when binding to part of the ubiquitin proteasome, specifically Cullin3 (CUL3), a component of E3 ubiquitin ligase. Conclusion In this familial case of EA/LVNC, we have identified a candidate gene variant, KLHL26 (p.R237C), which may have an important role in ubiquitin‐mediated protein degradation during cardiac development