ファロー四徴症

OBJECTIVES: To characterize hospital survival and risk factors after aortic root replacement performed by congenital units in adult patients, and to compare risk profiles of repaired conotruncal defects to other underlying diagnoses. METHODS: Adult patients after aortic root replacement in a congenital cardiac unit were identified in the European Congenital Heart Surgeons Association (ECHSA) database. Underlying pathology, prior surgeries, and types of index aortic root surgery were characterized. Primary endpoints were hospital and 30-day survival. Secondary endpoints included circulatory arrest, length of intensive care unit and hospital stays, and discharge to chronic care facility. Multiple logistic regression analyses were performed to test for independent risk factors. RESULTS: N=2544 patients after full aortic root replacement, performed in 101 different hospitals (1999 to 2024), were identified. N=249 patients (10%) with primary conotruncal defects included double-outlet-right ventricle (n=14, 6%), pulmonary atresia with VSD (n=42, 17%), transposition of great arteries (n=71, 29%), Tetralogy of Fallot (n=88, 35%), Truncus arteriosus communis (n=34, 14%). Mechanical Bentall was performed in n=163 cases (65%), valve-sparing in n=43 cases (17%), biological Bentall in n=20 (8%), homograft replacement in n=23 (9%). Conotruncal diagnosis was linked to longer CPB times (p<0.001), longer aortic cross-clamp times (p<0.001), longer ICU stay (p<0.001) and longer hospital stay (p<0.001). Multiple logistic regression revealed duration of CPB (p<0.001) and conotruncal lesion (OR 2.1, p=0.037) as independent risk factors for hospital mortality. CONCLUSIONS: Among adult congenital heart defect patients undergoing aortic root replacement, those with conotruncal defects represent a distinct subgroup characterized by a high-risk operative profile.

INTRODUCTION: Repaired TOF (rTOF) is a common condition in adult congenital heart disease care. The aim of this article is to investigate how inflammatory markers and volume overload affect rTOF, and how these factors correlate with echocardiographic findings in the right heart cavities. METHODS: This study included 32 adult patients (mean age, 27.44 ± 6.22 years) who had undergone surgical correction of TOF during infancy. All participants underwent transthoracic echocardiography, and laboratory assessments included measurements of N-terminal pro-B-type natriuretic peptide (NT-proBNP; reference range ≤125 pg/mL) and high-sensitivity C-reactive protein (hs-CRP; reference range ≤2.0 mg/L). RESULTS: Significant correlations were found between NT-proBNP levels and right ventricular (RV) fractional area change (FAC) (r = -0.55, P = 0.001), tricuspid annular plane systolic excursion (TAPSE) (r = -0.35, P = 0.04), RV basal diameter (r = 0.47, P = 0.006), and right atrium (RA) area (r = 0.50, P = 0.003). Similarly, hs-CRP levels showed strong associations with RV FAC (r = -0.58, P < 0.001), TAPSE (r = -0.45, P = 0.009), RV basal diameter (r = 0.43, P = 0.01), and RA area (r = 0.43, P = 0.01). NT-proBNP had a significant impact (P = 0.017; EXP B = 0.982) on RV FAC. A decrease of 10 units in NT-proBNP was associated with a 17% reduction likelihood of having RV FAC <35%. CONCLUSION: The proinflammatory response (hs-CRP) and volume load (NT-proBNP) are directly correlated with echocardiographic parameters of the right heart cavities in patients with rTOF, suggesting that patients may benefit from treatment with anti-inflammatory drugs, as well as medications targeting diastolic dysfunction.

Pediatric congenital right heart obstructive lesions encompass a spectrum of diseases that obstruct blood flow from the right atrium to the pulmonary artery. Right ventricular inflow obstructions include tricuspid valve abnormalities, such as Ebstein anomaly, tricuspid valve dysplasia, and tricuspid atresia. Right ventricular outflow obstructions include pulmonary valve stenosis, pulmonary atresia, and tetralogy of Fallot. Cardiac computed tomography angiography (CCTA) is a valuable tool for the diagnosis, treatment planning, and follow-up of these lesions. In this pictorial review, we highlight the diagnostic utility of CCTA in congenital right heart obstructive lesions, emphasizing its role in preoperative planning.

BACKGROUND: Chronic pulmonary regurgitation (PR) is a common late sequela after repair of Tetralogy of Fallot (TOF) and contributes to progressive right ventricular (RV) dilation, dysfunction, and adverse clinical outcomes. Multimodality imaging plays a central role in longitudinal assessment and in informing the timing of pulmonary valve replacement (PVR). METHODS: We report a single-center, retrospective case series of seven adults with surgically repaired TOF followed at a tertiary care center. Each patient underwent serial transthoracic echocardiography (TTE) and at least two cardiac magnetic resonance (CMR) examinations over follow-up periods ranging from 5 to more than 15 years. PR severity was classified using CMR-derived regurgitant fraction according to established thresholds. RV size, systolic function, right ventricular outflow tract (RVOT) morphology, and clinical outcomes including PVR were recorded. Analyses were descriptive given the small sample size and heterogeneous nature of the cohort. RESULTS: All seven patients (4 female, 3 male) survived to the most recent follow-up in 2025. PR was present in every patient, with CMR regurgitant fractions ranging from 21% to 57% at latest follow-up. Greater PR severity was associated with larger RV end-diastolic volume index (RVEDVi) and lower RV ejection fraction (RVEF) on serial imaging. RVEDVi ranged from 77 to 163 mL/m² and RVEF from 37% to 61%. Qualitative concordance between TTE and CMR for RV remodeling was observed in six of seven patients (86%). Several RVOT morphologic patterns were observed: patch-augmented RVOT with dilation, subpulmonic narrowing with turbulent flow acceleration, asymmetric branch pulmonary artery anatomy, and prosthetic pulmonary valve degeneration. Three patients underwent PVR during follow-up for severe PR, RVEDVi ≥150 mL/m², declining RVEF, or symptomatic deterioration, and demonstrated post-procedural stabilization of RV size and improved functional status. CONCLUSIONS: In this single-center case series, integrated TTE and CMR provided complementary structural and functional information across a heterogeneous spectrum of post-repair RVOT anatomy, with CMR offering superior quantitative resolution of RV volumes and regurgitant fraction. The observed phenotypic variability illustrates the importance of multimodality, individualized surveillance in adults with repaired TOF and reinforces the role of imaging integrated with clinical assessment in PVR decision-making.

The TBX1 deletion is frequently observed in patients with tetralogy of Fallot (TOF), the most prevalent cyanotic congenital heart defect (CHD); however, the role of noncoding variants in its regulatory region remains unclear. We performed whole-genome sequencing (WGS) on a cohort of 428 patients diagnosed with TOF, which identified the presence of 22q11.2 deletion in 31 cases, including the TBX1 genomic region, as well as 7 functional noncoding variants in its enhancer (EnhTBX1). These findings accounted for a total of 9.81% (42/428) of TOF cases. We then knocked out EnhTBX1 (EnhTBX1-/-) in ES cells and utilized blood vessel organoids (BVOs) as a model to elucidate the mechanisms underlying outflow tract (OFT) vessel dysfunction. The EnhTBX1-/- BVOs exhibited significantly reduced TBX1 mRNA expression, leading to impaired angiogenesis, vessel regression with decreased pericyte coverage, and alterations in tight junction morphology. Mechanistically, we have identified TBX1 as a specific transcription factor for endothelial progenitor cells that influences their differentiation. The main targets of TBX1 are genes involved in angiogenesis-related pathways, such as DLL4 and TGFBR2, which have been reported to play crucial roles during OFT formation. Finally, rescue experiments with TBX1 overexpression not only reinstated the expression of aforementioned target genes but also recovered tight junction formation and enhanced pericyte coverage rate of EnhTBX1-/- BVOs. In conclusion, this study demonstrates the involvement of noncoding variants in the TBX1 enhancer in TOF pathogenesis, highlighting the feasibility of using organoids to decipher the underlying mechanisms of unconserved noncoding regions in developmental malformations.