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Objective: Shone's complex comprises of a combination of congenital cardiac anomalies causing obstructions in the left ventricle's inflow and outflow tracts. This systematic review aims to evaluate the clinical features and surgical outcomes of Shone's complex. Methods: An electronic literature search of PubMed and Scopus was performed to identify relevant studies related to the presentation, management, and outcomes of Shone's complex. Two reviewers independently performed selection. Data on study characteristics, participant demographics, interventions, outcomes, and follow-up durations were extracted and analyzed. Results: A total of 691 papers were identified, with 18 studies included in the final analysis. The majority of the studies (n = 12) focused on the pediatric age group. The most common clinical presentations were coarctation of the aorta (n = 17) and mitral stenosis (n = 12). Surgical interventions often involved staged approaches, prioritizing outflow before inflow obstructions. Mitral valve repair was preferred over replacement due to better long-term outcomes (n = 8). Biventricular repair was recommended due to improved postoperative outcomes, but often needed reoperations. Reoperations were common, primarily due to recurrent coarctation (n = 10), subaortic stenosis (n = 8), and mitral valve dysfunction (n = 7). Pulmonary hypertension (n = 10) and arrhythmias (n = 11) were significant complications. Most patients were in modified Ross/NYHA functional class 1 on follow-up. Mortality rates ranged from 4 to 28%, with better outcomes associated with early and strategic surgical interventions. Conclusion: Early diagnosis and biventricular repair were associated with better outcomes while transplantation was often an eventuality. Standardized diagnostic criteria, long-term follow-up, and consensus guidelines are needed to improve the management of this congenital heart disease. [ABSTRACT FROM AUTHOR]

There is emerging evidence that the cardiac interatrial septum has an important role as a thromboembolic source for ischemic strokes. There is little consensus on treatment of patients with different cardiac interatrial morphologies or pathologies who have had stroke. In this paper, we summarize the important background, diagnostic, and treatment considerations for this patient population as presented during the Federation of American Societies for Experimental Biology (FASEB) Virtual Catalytic Conference on the Cardiac Interatrial Septum and Stroke Risk, held on December 7, 2022. During this conference, many aspects of the cardiac interatrial septum were discussed. Among these were the embryogenesis of the interatrial septum and development of anatomic variants such as patent foramen ovale and left atrial septal pouch. Also addressed were various mechanisms of injury such as shunting physiologies and the consequences that can result from anatomic variants, as well as imaging considerations in echocardiography, computed tomography, and magnetic resonance imaging. Treatment options including anticoagulation and closure were addressed, as well as an in-depth discussion on whether the left atrial septal pouch is a stroke risk factor. These issues were discussed and debated by multiple experts from neurology, cardiology, and radiology.

Congenital heart disease (CHD), which accounts for about one-third of all congenital birth defects and affects about 1% of all live births worldwide, has had a stable incidence rate and decreased mortality rate since 1990. Despite advances in fetal cardiac ultrasound examinations and routine pulse oximetry screening of newborns, a considerable proportion of patients with CHD may still be missed until adulthood, leading to major morbidity and mortality due to physical limitations and reduced quality of life. We herein describe a 29-year-old woman who was mistaken as an inoperable case of CHD and referred to our center with palpitation and exertional dyspnea. During workups, she was diagnosed with severe pulmonary hypertension associated with patent ductus arteriosus (PDA), pre-ductal aortic coarctation, ventricular septal defect (VSD), and bicuspid aortic valve, all of which had been missed from infancy. After initial medical treatment for pulmonary hypertension, a simultaneous transcatheter approach was selected, whereby the PDA was closed with an occluder device, and the coarctation was repaired simultaneously with a self-expanding stent. Eight months later, her VSD was closed successfully via an interventional technique using a muscular VSD occluder device. This case highlights the significance of adult CHD fellowship training. A cardiologist specialized in this field was able to properly diagnose and treat an adult with complex CHD, which had been overlooked since infancy. As a result, the patient experienced complete relief from her symptoms and was saved from developing Eisenmenger syndrome. [ABSTRACT FROM AUTHOR]

BackgroundA large proportion of genetic risk remains unexplained for structural heart disease involving the interventricular septum (IVS) including hypertrophic cardiomyopathy and ventricular septal defects. This study sought to develop a reproducible proxy of IVS structure from standard medical imaging, discover novel genetic determinants of IVS structure, and relate these loci to diseases of the IVS, hypertrophic cardiomyopathy, and ventricular septal defect.MethodsWe estimated the cross-sectional area of the IVS from the 4-chamber view of cardiac magnetic resonance imaging in 32 219 individuals from the UK Biobank which was used as the basis of genome wide association studies and Mendelian randomization.ResultsMeasures of IVS cross-sectional area at diastole were a strong proxy for the 3-dimensional volume of the IVS (Pearson r=0.814, P=0.004), and correlated with anthropometric measures, blood pressure, and diagnostic codes related to cardiovascular physiology. Seven loci with clear genomic consequence and relevance to cardiovascular biology were uncovered by genome wide association studies, most notably a single nucleotide polymorphism in an intron of CDKN1A (rs2376620; β, 7.7 mm2 [95% CI, 5.8-11.0]; P=6.0×10-10), and a common inversion incorporating KANSL1 predicted to disrupt local chromatin structure (β, 8.4 mm2 [95% CI, 6.3-10.9]; P=4.2×10-14). Mendelian randomization suggested that inheritance of larger IVS cross-sectional area at diastole was strongly associated with hypertrophic cardiomyopathy risk (pIVW=4.6×10-10) while inheritance of smaller IVS cross-sectional area at diastole was associated with risk for ventricular septal defect (pIVW=0.007).ConclusionsAutomated estimates of cross-sectional area of the IVS supports discovery of novel loci related to cardiac development and Mendelian disease. Inheritance of genetic liability for either small or large IVS, appears to confer risk for ventricular septal defect or hypertrophic cardiomyopathy, respectively. These data suggest that a proportion of risk for structural and congenital heart disease can be localized to the common genetic determinants of size and shape of cardiovascular anatomy.

Elderly patients with multiple comorbidities often face complex cardiac challenges, including aortic valve issues and atrial septal defects. Traditional open-heart surgery may not be viable for this demographic. Transcatheter aortic valve implantation (TAVI) emerges as a preferred alternative. In this case, a frail patient with multiple comorbidities, atrial septal defect, and significant aortic stenosis and regurgitation underwent a one-stop procedure, combining TAVI and atrial septal defect closure, guided by advanced imaging, including three-dimensional ultrasound. Ultrasound played a pivotal role in the perioperative phase, offering precise screening and guidance. This innovative technique, minimizing surgical trauma and recovery time, significantly improved the patient's quality of life. [ABSTRACT FROM AUTHOR]

Objective: Rare disease Background: Patent foramen ovale is an important part of fetal circulation, allowing the oxygenated blood from the umbilical cord to bypass the lungs. Patent foramen ovale usually close after birth due to the sudden change of the hemodynamics associated with the expansion of the lungs; however, they are known to persist in about 25% of the total population. One of their rare manifestations is platypnea-orthodeoxia syndrome, which presents as dyspnea upon assuming an upright position that improves upon recumbency. It is accompanied by hypoxemia. Case Report: We report a case of a 63-year-old man known to have systemic lupus erythematosus and positive anti-phospholipid antibodies. He had no prior thrombotic events, was admitted with symptoms of SARS-COV2 infection, and developed symptoms of platypnea-orthodeoxia syndrome during his hospitalization. Further evaluation by transthoracic echocardiography revealed he had patent foramen ovale with a right-to-left shunt, which was treated successfully with percutaneous device closure. Conclusions: Platypnea-orthodeoxia syndrome can be associated with various cardiac defects, resulting in right-to-left shunts and other non-cardiac pathologies such as pulmonary arteriovenous malformations, lung parenchymal diseases, and hepatopulmonary syndrome. In cases of cardiac right-to-left shunts, contrast-enhanced transthoracic echocardiography can effectively diagnose platypnea-orthodeoxia syndrome, and percutaneous closure has been shown to be an efficacious treatment option in alleviating the symptoms. This case report highlights the necessity of actively exploring the possibility of a patent foramen ovale with right-to-left shunting in patients exhibiting platypnea-orthodeoxia syndrome symptoms, while considering other potential etiologies. [ABSTRACT FROM AUTHOR]

We present a case of anatomic repair of dextro-transposition of the great arteries (d-TGA) with ventricular septal defect (VSD) in a 55-year-old man who presented with acute heart failure. This case highlights the importance of multimodal imaging and multidisciplinary involvement in developing a comprehensive surgical and medical plan for adults with congenital heart disease. We think this is the oldest reported patient undergoing anatomic surgical repair of d-TGA with VSD.

Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), characterized by short stature, speech delay, and facial dysmorphism. Here, we present a cohort of 33 individuals with clinical features distinct from FLHS and truncating (mostly de novo) SRCAP variants either proximal (n = 28) or distal (n = 5) to the FLHS locus. Detailed clinical characterization of the proximal SRCAP individuals identified shared characteristics: developmental delay with or without intellectual disability, behavioral and psychiatric problems, non-specific facial features, musculoskeletal issues, and hypotonia. Because FLHS is known to be associated with a unique set of DNA methylation (DNAm) changes in blood, a DNAm signature, we investigated whether there was a distinct signature associated with our affected individuals. A machine-learning model, based on the FLHS DNAm signature, negatively classified all our tested subjects. Comparing proximal variants with typically developing controls, we identified a DNAm signature distinct from the FLHS signature. Based on the DNAm and clinical data, we refer to the condition as "non-FLHS SRCAP-related NDD." All five distal variants classified negatively using the FLHS DNAm model while two classified positively using the proximal model. This suggests divergent pathogenicity of these variants, though clinically the distal group presented with NDD, similar to the proximal SRCAP group. In summary, for SRCAP, there is a clear relationship between variant location, DNAm profile, and clinical phenotype. These results highlight the power of combined epigenetic, molecular, and clinical studies to identify and characterize genotype-epigenotype-phenotype correlations.

A six-fold increase in congenital heart defects (CHD) exists among monochorionic (MC) twins compared to singleton or dichorionic twin pregnancies. Though MC twins share an identical genotype, discordant phenotypes related to CHD and other malformations have been described, with reported rates of concordance for various congenital anomalies at less than 20%. Our objective was to characterize the frequency and spectrum of CHD in a contemporary cohort of MC twins, coupled with genetic and clinical variables to provide insight into risk factors and pathophysiology of discordant CHD in MC twins. Retrospective analysis of all twins receiving prenatal fetal echocardiography at a single institution from January 2010 -March 2020 (N = 163) yielded 23 MC twin pairs (46 neonates) with CHD (n = 5 concordant CHD, n = 18 discordant CHD). The most common lesions were septal defects (60% and 45.5% in concordant and discordant cohorts, respectively) and right heart lesions (40% and 18.2% in concordant and discordant cohorts, respectively). Diagnostic genetic testing was abnormal for 20% of the concordant and 5.6% of the discordant pairs, with no difference in rate of abnormal genetic results between the groups (p = 0.395). No significant association was found between clinical risk factors and development of discordant CHD (p>0.05). This data demonstrates the possibility of environmental and epigenetic influences versus genotypic factors in the development of discordant CHD in monochorionic twins.

BCOR is a critical regulator of human development. Heterozygous mutations of BCOR in females cause the X-linked developmental disorder Oculofaciocardiodental syndrome (OFCD), and hemizygous mutations of BCOR in males cause gestational lethality. BCOR associates with Polycomb group proteins to form one subfamily of the diverse Polycomb repressive complex 1 (PRC1) complexes, designated PRC1.1. Currently there is limited understanding of differing developmental roles of the various PRC1 complexes. We therefore generated a conditional exon 9-10 knockout Bcor allele and a transgenic conditional Bcor expression allele and used these to define multiple roles of Bcor, and by implication PRC1.1, in mouse development. Females heterozygous for Bcor exhibiting mosaic expression due to the X-linkage of the gene showed reduced postnatal viability and had OFCD-like defects. By contrast, Bcor hemizygosity in the entire male embryo resulted in embryonic lethality by E9.5. We further dissected the roles of Bcor, focusing on some of the tissues affected in OFCD through use of cell type specific Cre alleles. Mutation of Bcor in neural crest cells caused cleft palate, shortening of the mandible and tympanic bone, ectopic salivary glands and abnormal tongue musculature. We found that defects in the mandibular region, rather than in the palate itself, led to palatal clefting. Mutation of Bcor in hindlimb progenitor cells of the lateral mesoderm resulted in 2/3 syndactyly. Mutation of Bcor in Isl1-expressing lineages that contribute to the heart caused defects including persistent truncus arteriosus, ventricular septal defect and fetal lethality. Mutation of Bcor in extraembryonic lineages resulted in placental defects and midgestation lethality. Ubiquitous over expression of transgenic Bcor isoform A during development resulted in embryonic defects and midgestation lethality. The defects we have found in Bcor mutants provide insights into the etiology of the OFCD syndrome and how BCOR-containing PRC1 complexes function in development.

Appearance of unexpected masses in the chambers of the heart during cardiac surgery can be intriguing. We report the case of a mass in the left ventricle that appeared at the time of separation from cardiopulmonary bypass in a child after a complex intracardiac repair. The child presented for surgery to a tertiary care hospital in Muscat, Oman, in 2022. Prior to the surgical repair the mass was not appreciated by echocardiography. An intraventricular baffle was used to divert left ventricular blood flow towards the outflow tract, after which an intraventricular "mass" was observed. Intraoperative transoesophageal echocardiography identified the mass as a portion of the interventricular septum that was located between the inlet and outlet ventricular septal defects. [ABSTRACT FROM AUTHOR]

Sinus venosus atrial septal defects present a wide variety of anatomical features and are frequently associated with partial anomalous pulmonary venous drainage of one or more right pulmonary veins. Surgical correction used to be the standard treatment. In recent times, transcatheter correction of superior sinus venosus atrial septal defects has come into vogue. The transcatheter closure of these defects with covered stents at a tertiary care centre in Oman between 2018 and 2023 is reported. [ABSTRACT FROM AUTHOR]

This review provides an update on the morphology of the sinus venosus defect. It was earlier believed that a 'common wall' separated the right pulmonary veins from the superior caval vein. In the sinus venosus defects, this wall was absent. Current evidence shows that the superior rim of the oval fossa, rather than forming a second septum or representing a common wall, is an infolding between the walls of the caval veins and the right pulmonary veins. The sinus venosus defect is caused by the anomalous connection of one or more pulmonary veins to a systemic vein. However, the pulmonary vein(s) retain their left atrial connections, leading to a veno-venous bridge that allows interatrial shunting outside the oval fossa. True atrial septal defects are located within the oval fossa or in the anteo-inferior buttress, while sinus venosus defects, ostium defects and coronary sinus defects are morphologically distinct from them. [ABSTRACT FROM AUTHOR]

Partial anomalous pulmonary venous return (PAPVR) is a rare congenital heart malformation in which 1 or more pulmonary veins drain into the systemic venous circulation or directly into the right atrium instead of the left atrium. It may occur alongside other congenital heart defects, including atrial septal defect (ASD). All patients with newly diagnosed ASD must be evaluated thoroughly for the likelihood of PAPVR to select surgical or percutaneous procedures. Here, we describe a 10-year-old girl with PAPVR who underwent percutaneous device closure of her secundum ASD with her PAPVR neglected at 3 years of age. We had to correct the anomalous venous connection by removing the device during an intricate procedure. The typical connection of the pulmonary veins to the left atrium was reported on her postoperative echocardiography 1 day after surgery. The patient was discharged without complications, and her first follow-up visit 7 days after discharge was unremarkable. While the most accurate diagnostic tools for PAPVR are cardiovascular magnetic resonance imaging and computed tomographic angiography, a careful examination of the pulmonary veins during pulmonary angiography or transesophageal echocardiography in children helps identify PAPVR in patients with ASD. [ABSTRACT FROM AUTHOR]

Purpose: In most neonatal intensive care units, echocardiography is performed at the bedside. The lack of closure of interatrial communications (IACs) in the oval fossa can affect mortality and morbidity. This study aimed to establish the rate of spontaneous closure of IACs diagnosed in the neonatal period and predict the need for subsequent evaluation according to various factors, including defect size and shape. Methods: The study group comprised 1,242 newborns admitted between March 2017 and December 2020. We judged the closure of the IACs and evaluated the risk factors of each. Patients were classified into the absence or presence of IACs. The morphology of the IACs was classified into atrial septal defects, patent foramen ovale, and multiple holes. Results: A total of 317 patients (131 female, 186 male) were enrolled in the study, and the average defect size was 3.0±1.0 mm. An overall spontaneous closure rate of 89.9% was observed during an average follow-up interval of 5.1±1.1 months. When multiple Cox regression analyses were performed to analyze the risk factors for spontaneous closure, initial defect size was a significant factor. The optimal cut-off value for predicting spontaneous closure of the IAC was 3.05 mm, and the area under the receiver operating characteristic curve was 0.625 (95% confidence interval, 0.520 to 0.729). Preterm infants had a larger defect size corrected for birth weight and a higher closure rate than term infants. Conclusion: Other than large defect size, no factors delayed spontaneous closure. When defects in the oval fossa measure =3 mm, most patients experience spontaneous closure by 7 months of age. [ABSTRACT FROM AUTHOR]