総動脈幹遺残症

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.

Conotruncal anomalies comprise a heterogeneous group of congenital heart defects arising from abnormal embryologic development of the cardiac outflow tract and the great arteries. Aortic root dilatation represents a frequent yet comparatively underexplored finding in this population, and clear guidelines regarding surveillance and surgical treatment remain limited. This article reviews mechanisms of aortic root dilatation, diagnostic evaluation, and surgical indications and principles for aortic root surgery in adults with conotruncal anomalies, including lesion-specific considerations for Tetralogy of Fallot, d-transposition of the great arteries, truncus arteriosus, and double outlet right ventricle.

BACKGROUND: Fetal and neonatal outcomes and factors increasing mortality risk in fetal truncus arteriosus are not well characterized. We aimed to examine the prenatally encountered cardiac spectrum, define extracardiac and genetic associations, explore clinical outcomes and identify prenatal factors associated with worse outcomes in a contemporary large cohort. METHODS: A multicenter retrospective cohort study was conducted via the Fetal Heart Society Research Collaborative including fetal truncus arteriosus cases encountered between January 1, 2010, and September 1, 2021, within 22 North American cardiac centers. Demographic, clinical, anatomic, and functional fetal echocardiographic variables were analyzed for associations with presurgical death (fetal death/neonatal presurgical death/neonatal listing for heart transplantation before initial hospital discharge). Variables were compared between survivors and nonsurvivors with nonparametric tests and univariable logistic regression; a multivariable linear probability model was used for further assessment after adjusting for confounders. RESULTS: Of 378 fetuses diagnosed prenatally, 201 (53.2%) had a genetic abnormality or extracardiac anomaly identified. Pregnancy termination was chosen in 47 (12.4%) pregnancies and palliative care in 13 (3.4%). Of 318 pregnancies with intention to treat, 17 (5.3%) ended in fetal death and 19 (6%) in neonatal presurgical death. In addition to prematurity and low birth weight, truncal valve stenosis (but not regurgitation or anatomic subtype) and ventricular dysfunction were associated with presurgical death. CONCLUSIONS: Half of fetuses with truncus arteriosus will have an associated genetic abnormality or extracardiac anomaly. Truncal valve stenosis and ventricular dysfunction, as well as preterm birth and low birth weight, are associated with presurgical death. These data are important for prognostication and prenatal counseling.

OBJECTIVES: The impact of conotruncal anomalies on long-term outcomes after total cavopulmonary connection remains unclear, particularly regarding haemodynamic performance and dominant ventricular morphology. METHODS: All patients who underwent total cavopulmonary connection between 1994 and 2023 at a single centre were reviewed. Conotruncal anomalies were defined as transposition of the great arteries, double outlet right ventricle, tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch type B. Four endpoints were analysed: transplant-free survival, Fontan failure, tachyarrhythmia, and ventricular dysfunction. Multivariable Cox regression, inverse probability of treatment weighting, and subgroup analyses were performed to disentangle conotruncal anomaly effects from dominant ventricular morphology. RESULTS: Among the 650 patients, 291 (44.8%) were identified with conotruncal anomalies. During a median follow-up of 6.3 years, no differences were observed in transplant-free survival (log-rank p = 0.136) or Fontan failure (p = 0.717) between groups. Dominant right ventricular morphology was independently associated with Fontan failure (hazard ratio: 2.20; p = 0.006) and tachyarrhythmia (hazard ratio: 3.22; p = 0.004). These findings were confirmed across all sensitivity analyses. No differences were detected in filling pressures, cardiac index, or peak oxygen uptake on post-operative catheterisation (n = 226) and cardiopulmonary exercise testing (n = 161). When stratified into four groups by conotruncal status and dominant ventricular morphology, freedom from Fontan failure clustered by morphology rather than diagnostic category (4-way log-rank p < 0.001). CONCLUSIONS: Conotruncal anomalies are not independently associated with adverse outcomes following total cavopulmonary connection. Dominant right ventricular morphology, not diagnostic category, is the principal determinant of long-term Fontan outcomes.