Cirugía congénitos

Resuscitation. 2025 Jun 16:110676. doi: 10.1016/j.resuscitation.2025.110676. Online ahead of print.

ABSTRACT

INTRODUCTION: Interposed abdominal compression CPR (IAC-CPR) is an American Heart Association Class IIb recommended adjunct to standard CPR (S-CPR) that employs abdominal counter-pulsation during the "diastolic" (release) phase of thoracic compressions. Animal and adult studies have demonstrated IAC-CPR augmentation of venous return to the right heart with enhanced cardiac output, and increased diastolic blood pressure (DBP) with improved retrograde flow to the coronary arteries and brain. We hypothesized that IAC-CPR (compared with S-CPR) would result in higher DBP which has been associated with improved survival outcomes in pediatric cardiac intensive care unit (PCICU) patients.

METHODS: As participants in a prospective, multicenter, quality assurance collaborative (PediRes-Q.org) from Dec 2020 - July 2024, three participating PCICU sites used IAC-CPR within usual care, and systematically collected hemodynamic data from 1 to 2 min sequential epochs of S-CPR and IAC-CPR within the same patient. IAC-CPR training via video (https://youtu.be/cd3Gxu7Maqk), digital slide presentation, and in-person mannequin demonstration of technique competency at each participating center were required. Single rescuer resuscitation of children ≤ 3 years old proceeded with S-CPR for 1-2 min, followed by 1-2 min of IAC-CPR. Choice of CPR technique for the remainder of the cardiac arrest event was then left to the clinical care team. Hemodynamic waveforms from epochs of S-CPR and IAC-CPR were compared. Return of spontaneous circulation (ROSC), return of circulation (ROC) with ECMO, and survival to hospital discharge or to 30 days were recorded. Neurological outcome was assessed pre-arrest and at hospital discharge by the Pediatric Cerebral Performance Category (PCPC) score. Favorable neurologic outcome was considered PCPC category 1-2, or no change from pre-arrest baseline.

RESULTS: Seventeen infants with complex congenital heart disease were included, the majority of which (14/17) were single ventricle patients who experienced arrest postoperatively. Intervention analyses demonstrated a DBP increase of 11.6 mmHg during IAC-CPR versus S-CPR (95% CI [2.2-21.1], p = 0.018, adjusted for non-stationarity and correlations in individual time series). Peak systolic blood pressure (SBP) increased by 15.4 mmHg during IAC-CPR versus S-CPR (95% CI [0.51 - 30.2], p = 0.044, adjusted for non-stationarity and correlations in individual time series). ROSC was achieved in 11/17 (65%), and ROC with ECMO in 5/17 (29%). Survival to hospital discharge or to 30 days occurred in 8/17 (47%), and all had a favorable neurologic outcome. No complications attributable to IAC-CPR were found.

CONCLUSIONS: IAC-CPR was associated with significant improvements in both DBP and SBP compared to S-CPR technique in pediatric ICU patients with complex congenital heart disease. This underscores the need for study of IAC-CPR hemodynamics and outcomes in a broader cohort of cardiac and non-cardiac pediatric patients.

PMID:40516688 | DOI:10.1016/j.resuscitation.2025.110676

Int J Cardiol. 2025 Jun 12:133515. doi: 10.1016/j.ijcard.2025.133515. Online ahead of print.

ABSTRACT

BACKGROUND: Pulmonary arterial hypertension (PAH) is a severe disease with significant genetic predisposition. While genetic architecture and clinical implications in pediatric PAH remain unclear.

METHODS: We retrospectively analyzed clinical and genetic data from 218 pediatric PAH patients including 115 idiopathic/heritable PAH (IPAH/HPAH) and 103 PAH associated with congenital heart disease (PAH-CHD) admitted to our center between 2011 and 2023.

RESULTS: 50.0 % of the cohort carried genetic variations, with BMPR2 being the most prevalent (16.5 % in whole and 27.8 % in IPAH/HPAH). Compared to IPAH/HPAH, PAH-CHD showed a distinct mutation profile. Five hotspot mutation sites in 4 PAH-causing genes (BMPR2, ACVRL1, SOX17, KCNK3) were identified, resulting in altered charged amino acid residues or protein truncations. Patients with pathogenic or likely pathogenic (P/LP) mutations in definitive PAH-causing genes (affected mutation carriers) had a higher proportion of high-risk profile, more severe right ventricular enlargement and lower TAPSE, while patients with P/LP mutations in PAH-associated genes showed similar clinical features. Affected mutation carriers also had a poorer prognosis compared to non-carriers and received more aggressive therapeutic interventions. BMPR2 mutation carriers were older at diagnosis and had lower cardiac index compared to other mutation carriers.

CONCLUSION: This study unveiled a different genetic landscape of pediatric PAH in China, and underscored the importance of genetic screening for early risk stratification. A distinct mutation profile in PAH-CHD from IPAH/HPAH patients was found, which warrants further investigation on the identification of predisposing genes for each subpopulation, thus providing new insights into pathogenesis and therapeutic approaches of PAH.

PMID:40516660 | DOI:10.1016/j.ijcard.2025.133515

Metabolomics. 2025 Jun 14;21(4):80. doi: 10.1007/s11306-025-02276-6.

ABSTRACT

INTRODUCTION: Amino acids (AAs) serve diverse roles, and insufficient delivery is associated with worse outcomes in ill patients. In the case of congenital heart disease (CHD) surgery with cardiopulmonary bypass (CPB), AA levels are often dysregulated. Changes at the individual AA level, impact of clinical factors, and association with outcomes are less understood.

OBJECTIVES: We evaluated AA levels at multiple timepoints, the impact of pre-operative nutrition on these levels, and their association with the combined outcome: cardiac arrest, death, mechanical circulatory support, or ICU length of stay (LOS) above the 75% quantile of the cohort.

METHODS: Infants < 120 days undergoing CHD surgery with CPB were evaluated, excluding those < 2 kg or 34 weeks corrected gestational age. Relative AA quantification was performed pre-operatively, during rewarming, and 24 h post-ICU admission. Partial least squares discriminant analysis was used to compare AA levels between timepoints and feeding status. Univariate and multivariate analysis assessed for association with the combined outcome.

RESULTS: 16 of 19 AAs decreased during rewarming with 11 continuing to decrease at 24 h. Patients who did not receive enteral feeds pre-operatively had lower levels of certain AAs. Univariate analysis identified that decreased levels of glutamine, aspartate, and glutamate, and increased phenylalanine and lysine levels, were associated with increased risk of the combined outcome.

CONCLUSION: AA levels decreased following CPB and are impacted by pre-operative feeding status. Decreased levels of certain AAs are associated with increased risk of the combined outcome. Emphasizing pre-operative enteral nutrition and post-operative AA supplementation could improve outcomes in this population.

PMID:40515782 | DOI:10.1007/s11306-025-02276-6

Pediatr Nephrol. 2025 Jun 14. doi: 10.1007/s00467-025-06846-7. Online ahead of print.

ABSTRACT

BACKGROUND: Acute kidney injury (AKI) and dysnatremia following pediatric cardiac surgery are common conditions associated with worse outcomes. While the multifactorial etiology of AKI is well-known, the role of concomitant dysnatremia is limited. This study aims to describe the occurrence of AKI, its association with the length of stay in the intensive care unit (ICU-LOS), and the impact of dysnatremia in the context of AKI.

METHODS: Retrospective study comprising 228 congenital heart procedures in 213 infants at Rigshospitalet, Copenhagen, Denmark, from 2017 to 2019. AKI development was evaluated separately in neonates and infants > 1 month and its impact on ICU-LOS. Risk factors for AKI were analyzed across age groups using the univariate and multivariate logistic regression analysis.

RESULTS: AKI occurred in 61% of neonates and 62% of infants. Severity was comparable across age groups, except for KDIGO-stage 3, where seven out of eight children treated with peritoneal dialysis were neonates. Urine output was well-preserved despite AKI development, but children with AKI required more than double the furosemide dose. In multivariate analysis, prolonged cardiopulmonary bypass (CPB) duration, higher furosemide doses, and hypernatremia were independently associated with AKI. AKI was only associated with prolonged ICU-LOS in infants, while hyponatremia was associated with prolonged ICU-LOS in all individuals with AKI.

CONCLUSIONS: AKI occurs frequently in neonates and infants after congenital heart surgery but is only associated with prolonged ICU-LOS in infants. The co-occurrence of AKI and hyponatremia leads to longer ICU-LOS in both neonates and infants. Independent predictors of AKI were prolonged CPB duration, hypernatremia, and reduced furosemide sensitivity.

PMID:40515779 | DOI:10.1007/s00467-025-06846-7

J Thorac Cardiovasc Surg. 2025 Jun 11:S0022-5223(25)00472-6. doi: 10.1016/j.jtcvs.2025.06.005. Online ahead of print.

ABSTRACT

OBJECTIVES: The mechanisms underlying anatomical tricuspid regurgitation (TR) in congenitally corrected transposition of the great arteries (ccTGA) remain unclear. This study investigated the association between interventricular septal motion (IVSm) and TR severity.

METHODS: Echocardiographic data from 406 ccTGA patients were retrospectively analyzed and stratified by TR grade (≥3 vs. ≤2) at initial evaluation. IVSm was categorized as normal, reversed, or bidirectional. Patients who underwent pulmonary artery banding (PAB) and those with TR grade ≤2 without prior surgery were analyzed as separate subgroups.

RESULTS: Among 109 patients with TR grade ≥3, 91 (83.49%) had reversed IVSm, significantly higher than in the ≤2 group (6/297, 2.02%). In the PAB subgroup (n=79), TR severity significantly decreased post-procedure (P<0.001), accompanied by a shift in IVSm from reversed to normal (P<0.001). In the no-surgery group (n=136), Fourteen patients (10.29%) developed progressive TR and right ventricular dilation secondary to the reversal of IVSm. Reversed IVSm was a strong predictor of severe TR (AUC 0.77, P=0.001) and independently associated with its development (HR 28.35, P<0.001).

CONCLUSIONS: Reversed IVSm is significantly associated with severe TR in ccTGA and may act as both a mechanistic contributor and a predictive marker of disease progression.

PMID:40513814 | DOI:10.1016/j.jtcvs.2025.06.005

Anaesth Crit Care Pain Med. 2025 Apr 24;44(4):101528. doi: 10.1016/j.accpm.2025.101528. Online ahead of print.

NO ABSTRACT

PMID:40513495 | DOI:10.1016/j.accpm.2025.101528

J Int Med Res. 2025 Jun;53(6):3000605251348230. doi: 10.1177/03000605251348230. Epub 2025 Jun 13.

ABSTRACT

Accessory mitral valve tissue is a rare congenital cardiac anomaly that can lead to left ventricular outflow tract obstruction. We present the case of an older female patient with accessory mitral valve tissue, a subaortic membrane, an unruptured aneurysm of the aortic sinus, and left ventricular outflow tract obstruction. Successful excision of the accessory mitral valve tissue and repair of the aortic sinus were performed. Postoperative echocardiography showed complete removal of the subaortic membrane, with a residual accessory mitral valve tissue (5 mm). Color Doppler imaging revealed a significant reduction in mosaic flow signals in the left ventricular outflow tract, with the peak blood flow velocity decreasing to 1.6 m/s. The postoperative course was uneventful, and the patient was followed up with echocardiography at 3 days, 5 days, 1 month, 3 months, and 6 months after the surgery. Accessory mitral valve tissue is a rare congenital defect frequently associated with other cardiovascular congenital malformations. This report also provides a comprehensive clinical review of accessory mitral valve tissue, covering anatomical classification, associated cardiac anomalies, pathophysiology, diagnostic approaches, and treatment strategies to offer an improved clinical understanding of the condition.

PMID:40511724 | PMC:PMC12171269 | DOI:10.1177/03000605251348230

Cureus. 2025 May 13;17(5):e84002. doi: 10.7759/cureus.84002. eCollection 2025 May.

ABSTRACT

Intraoperative cardiac arrest during pediatric congenital heart disease surgery is rare but associated with high mortality and poor neurological outcomes. While cerebral perfusion during cardiopulmonary resuscitation is typically antegrade, retrograde cerebral flow has not been reported. We report a case of a 12-year-old girl undergoing pulmonary artery debanding for congenitally corrected transposition of the great arteries. Massive hemorrhage from pulmonary artery injury led to cardiac arrest, during which antegrade cerebral flow was likely absent for 15 minutes. Nevertheless, the patient recovered without neurological sequelae. Time-domain near-infrared spectroscopy showed increased deoxygenated hemoglobin and preserved total hemoglobin, suggesting cerebral perfusion via retrograde venous flow. Central venous pressure was maintained at 15-25 mmHg through rapid transfusion. This case suggests that retrograde cerebral perfusion may occur during cardiac arrest when central venous pressure is adequately maintained, potentially contributing to favorable neurological outcomes even in the absence of antegrade flow.

PMID:40510082 | PMC:PMC12159692 | DOI:10.7759/cureus.84002

Asian Cardiovasc Thorac Ann. 2025 Jun 12:2184923251350362. doi: 10.1177/02184923251350362. Online ahead of print.

ABSTRACT

BackgroundValve-sparing repair for tetralogy of Fallot is challenging in patients with hypoplastic pulmonary valves. Recently, we adopted transannular incision and delamination. This study evaluates its feasibility for right ventricular outflow relief, valve function, and growth.MethodsWe retrospectively reviewed records of patients with tetralogy of Fallot or Fallot-type double-outlet right ventricle who underwent intracardiac repair from October 2013 to December 2020.ResultsTwenty-six patients were enrolled. Two patients who underwent the Rastelli procedure were excluded, leaving 24 for evaluation. Eleven underwent valve-sparing repair, eight underwent valve-preserving repair with transannular delamination, and five underwent the transannular patch procedure. The median age and weight at surgery were 11.7 months (1.9-40.2 months) and 7.6 kg (3.7-12.7 kg). No patients died or required reintervention for pulmonary valve stenosis or regurgitation during a median follow-up of 42.5 months (4.6-72.1 months). In the delamination group, the mean preoperative pulmonary valve z-score was -2.1 ± 1.0, improving significantly to 0.2 ± 0.8. Pulmonary regurgitation was mild in six of eight patients, while two with the smallest preoperative annulus developed moderate regurgitation. Despite no significant difference in the preoperative pulmonary valve annulus between the delamination and transannular patch groups, the delamination group had significantly lower postoperative pulmonary valve regurgitation, while no significant difference in stenosis.ConclusionsValve-preserving repair using the transannular delamination technique is feasible in patients with tetralogy of Fallot, reducing pulmonary regurgitation and avoiding transannular patch use. Long-term data with more patients are required to show the utility of this approach.

PMID:40509787 | DOI:10.1177/02184923251350362

J Clin Med. 2025 Jun 3;14(11):3955. doi: 10.3390/jcm14113955.

ABSTRACT

Introduction: Among aortic diseases in children, congenital defects such as coarctation of the aorta (CoA), interrupted aortic arch (IAA), hypoplastic aortic arch (HAA), and hypoplastic left heart syndrome (HLHS) predominate. Tissue patches are applied in pediatric cardiovascular surgery for the repair of congenital aortic defects as a filling material to replenish missing tissue or as a substitute material for the complete reconstruction of the vascular wall along the course of the vessel. This retrospective single-center study aimed to present the safety and feasibility of extracellular matrix (ECM) biological scaffolds in pediatric aortic surgery. Patients and methods: There were 26 patients (17 newborns and nine children), who underwent surgical procedures in the Department of Pediatric Cardiac Surgery (Poznań, Poland) between 2023 and 2024. The patients' population was divided into two subgroups according to the hemodynamic nature of the primary diagnosis of the congenital heart defect and the performed pediatric cardiovascular surgery. The first group included 18 (72%) patients after aortic arch repair for interrupted aortic arch and/or hypoplastic aortic arch, while the second group included seven (28%) patients after aortopulmonary anastomosis. In the first group, patches were used to reconstruct the aortic arch by forming an artificial arch with three separate patches sewn together, primarily addressing the hypoplastic or interrupted segments. In the second group, patches were applied to augment the anastomosis site between the pulmonary trunk and the aortic arch, specifically at the connection points in procedures, such as the Damus-Kaye-Stansel or Norwood procedures. The analysis was based on data acquired from the national cardiac surgery registry. Results: The overall mortality in the presented group was 15%. All procedures were performed using median sternotomy with a cardiopulmonary bypass. The cardiopulmonary bypass (CPB) and aortic cross-clamp (AoX) median times were 144 (107-176) and 53 (33-79) min, respectively. There were two (8%) cases performed in deep hypothermic circulatory arrest (DHCA). The median postoperative stay in the intensive care unit (ICU) was 284 (208-542) h. The median mechanical ventilation time was 226 (103-344) h, including 31% requiring prolonged mechanical ventilation support. Postoperative acute kidney failure requiring hemodiafiltration (HDF) was noticed in 12% of cases. Follow-up data, collected via routine transthoracic echocardiography (TTE) and clinical assessments over a median of 418 (242.3-596.3) days, showed no evidence of patch-related complications such as restenosis, aneurysmal dilation, or calcification in surviving patients. One patient required reintervention on the same day due to a significantly narrow ascending aorta, unrelated to patch failure. No histological data from explanted patches were available, as no patches were removed during the study period. The median (Q1-Q3) hospitalization time was 21 (16-43) days. Conclusions: ProxiCor® biological patches derived from the extracellular matrix can be safely used in pediatric patients with congenital aortic arch disease. Long-term follow-up is necessary to confirm the durability and growth potential of these patches, particularly regarding their resistance to calcification and dilation.

PMID:40507716 | PMC:PMC12155669 | DOI:10.3390/jcm14113955

Am J Physiol Heart Circ Physiol. 2025 Jun 12. doi: 10.1152/ajpheart.00105.2025. Online ahead of print.

ABSTRACT

The hemodynamics of Fontan pathophysiology and the effects of pulmonary vasodilator therapy are insufficiently understood. The aim was to evaluate hemodynamic responses to dobutamine induced stress and the effect of concomitant acute pulmonary vasodilation testing (APV) in patients with a Fontan circulation to identify hemodynamic phenotypes. Sixteen adult patients undergoing cardiac catheterization for clinical indication were included. Hemodynamic phenotyping was performed during baseline, dobutamine induced stress and concomitant APV (inhaled nitric-oxide with FIO2 1.0). Pulmonary vascular disease (PVD) was defined by pulmonary vascular resistance (PVR)>2Wood units or pulmonary artery pressure/pulmonary blood flow-slope (mPAP/Qp)>3mmHg/L/min. Patients were assigned to Group-A without PVD (N=8) or Group-B with PVD (N=8 mPAP/Qp>3 with N=3 PVR>2). For the total group; median cardiac output (Qs) was 5.2L/min and increased to 7.3L/min with dobutamine (p=0.005) without further change with APV (p=0.255). However, subgroup-analysis revealed that during dobutamine the increase in Qs occurred only in Group-A (+3.5L/min, p=0.012), and Qs decreased APV(-1.3L/min, p=0.0036). In contrast, in group-B Qs did not change with dobutamine (p=0.236), nor with APV (p=0.327). However, in contrast to group-A (p=0.889), in group-B Qp increased with APV(+1.3L/min, p=0.017) while the mPAP/Qp-slope improved significantly (6.2 to 1mmHg/L/min, p=0.017). Suggesting that APV improved Qp and oxygenation in patients with PVD, but had negative effects in those without PVD. This study shows that hemodynamic response to dobutamine induced stress and APV differs in patients with a Fontan circulation depending on the presence of pulmonary vascular disease. Hemodynamic phenotyping with sophisticated identification of pulmonary vascular disease potentially allows for patient-tailored treatment.

PMID:40506093 | DOI:10.1152/ajpheart.00105.2025

J Am Acad Orthop Surg Glob Res Rev. 2025 Jun 11;9(6):e24.00343. doi: 10.5435/JAAOSGlobal-D-24-00343. eCollection 2025 Jun 1.

ABSTRACT

A healthy 15-year-old male athlete presented with upper thoracic congenital kyphoscoliosis, causing notable pain and limiting participation in competitive sports. In addition to mid and low back pain related to sagittal profile, the patient also expressed concerns regarding shape of his back from the compensatory thoracolumbar lordosis relative to his desired physical activities. Imaging demonstrated an abnormal fusion segment from T4-T8 with hemivertebrae at T6 and T7. After failing conservative management, the patient underwent T2-L2 posterior spinal fusion with posterior column osteotomies, successfully restoring sagittal alignment and allowing a return to high-impact sports. Unfavorable symptoms associated with abnormal sagittal spinal alignment should be considered even in a stable, nonprogressive deformity. Sagittal correction with posterior spinal instrumented fusion can effectively restore sagittal posture and function in athletes with congenital kyphoscoliosis associated with a sweeping and symptomatic thoracolumbar lordosis, altering the natural history of the deformity and improving quality of life.

PMID:40505129 | PMC:PMC12168692 | DOI:10.5435/JAAOSGlobal-D-24-00343

Int Wound J. 2025 Jun;22(6):e70710. doi: 10.1111/iwj.70710.

ABSTRACT

The primary aim of this study was to evaluate the impact of the polyhexamethylene biguanide (PHMB) care bundle on the occurrence rates of surgical site infections (SSIs) in paediatric and neonatal cardiac surgery, addressing a critical gap in paediatric-specific infection prevention protocols. A retrospective cohort study included patients under 18 years old who underwent cardiac surgery at IRCCS Policlinico San Donato. Cohort A (n = 117) received the PHMB care bundle from April to December 2023, while Cohort B (n = 801) received conventional care from September 2020 to March 2023. The 1:1 propensity score matching was used to balance covariates between cohorts, resulting in two comparable cohorts (Cohort A = 114 patients and Cohort B = 112). The study found a significant reduction in SSIs among patients receiving the PHMB care bundle compared with those receiving conventional care (1.8% vs. 7.1%, p = 0.048). The comprehensive nature of the PHMB care bundle, including educational programs, preoperative and postoperative antimicrobial treatments, and consistent application of best practices, was instrumental in achieving these outcomes. Implementing antimicrobial care bundles could significantly reduce SSIs in paediatric cardiac surgery. Future research is needed to refine the tested bundle with prospective approaches.

PMID:40503594 | PMC:PMC12159764 | DOI:10.1111/iwj.70710

Indian J Otolaryngol Head Neck Surg. 2025 Jul;77(7):2689-2692. doi: 10.1007/s12070-025-05563-9. Epub 2025 May 22.

ABSTRACT

Drug induced sleep endoscopy (DISE) is an accepted diagnostic tool to pinpoint sites of dynamic obstruction in sleep apnoea. However, the challenges increase manifold in a child with Poland's syndrome (PS), a congenital condition characterised by hypoplasia or agenesis of thoracic musculoskeletal elements, with rare limb anomalies. There are numerous risks associated with anaesthesia, including difficulties with ventilation and the potential for malignant hyperthermia. We describe a case of a child with Poland's syndrome, with sleep disordered breathing. The patient was taken up for DISE-guided surgery. To our best knowledge, this is the first case of Poland's syndrome described with respect to DISE in literature. We discuss the case and our experience - both surgical and anaesthesia related Poland's syndrome.

PMID:40503156 | PMC:PMC12149053 | DOI:10.1007/s12070-025-05563-9

Eur Heart J Case Rep. 2025 May 28;9(6):ytaf270. doi: 10.1093/ehjcr/ytaf270. eCollection 2025 Jun.

NO ABSTRACT

PMID:40502811 | PMC:PMC12152536 | DOI:10.1093/ehjcr/ytaf270

Eur Heart J Case Rep. 2025 May 24;9(6):ytaf267. doi: 10.1093/ehjcr/ytaf267. eCollection 2025 Jun.

ABSTRACT

BACKGROUND: Infective endocarditis on a patent ductus arteriosus (PDA) is a rare but serious condition that can lead to life-threatening complications, such as mycotic aneurysms. We report a case of endocarditis on a PDA, complicated by multiple mycotic aneurysms, including a partially ruptured aneurysm of the pulmonary artery (PA) trunk.

CASE SUMMARY: A 20-year-old female presented with progressive dyspnoea, worsening over 48 h, accompanied by fever. Echocardiography revealed a large pericardial effusion with cardiac tamponade, necessitating the drainage of 500 mL of haemorrhagic fluid. Imaging studies revealed a false aneurysm of the PA trunk, with contrast extravasation into the pericardial space. Blood cultures and pericardial fluid cultures were positive for Staphylococcus aureus. Emergency surgery involved resection of the aneurysm, ligation of the PDA, and pericardial drainage. The patient recovered after 4 weeks of intravenous antibiotics and was discharged with good clinical and biological outcomes.

CONCLUSION: This case illustrates the importance of early diagnosis and management of infective endocarditis associated with congenital heart defects, as the delay can result in severe complications such as aneurysm rupture.

PMID:40502810 | PMC:PMC12152474 | DOI:10.1093/ehjcr/ytaf267

Cells. 2025 May 31;14(11):820. doi: 10.3390/cells14110820.

ABSTRACT

Congenital Heart Diseases (CHDs) are a heterogeneous group of structural abnormalities affecting the heart and major arteries, which are present in at least 1% of births worldwide. Studies have linked CHD to both genetic and environmental factors. In this regard, it has been demonstrated that changes in the epigenetic pattern impact the expression of key genes involved in proper cardiac development. Therefore, it is suggested that aberrant epigenetic mechanisms may contribute to the development of these pathologies. Here, we review and summarize the main epigenetic mechanisms involved in CHD. Moreover, cardiac development and the importance of the environment and CHD are also addressed.

PMID:40497996 | PMC:PMC12154987 | DOI:10.3390/cells14110820