Surgical repair of congenital stenosis is an effective procedure with acceptable surgical risk and good late survival, but late morbidity is not negligible, especially in infants and when associated pulmonary artery stenosis is present.
Following ALCAPA repair, LV function significantly improved, regardless of age at the time of repair. In addition, preoperative functional MV regurgitation decreased over time. Concomitant mitral valve surgery at the time of ALCAPA repair is required in patients with structural abnormalities of the MV.
Cyanotic and very young children with complete atrioventricular septal defect combined with the tetralogy of Fallot who require urgent treatment have long-term outcomes after staged repair similar to those of patients who undergo primary repair. Preoperative atrioventricular valve regurgitation is associated with increased risk for reoperation over the long-term.
BackgroundThe Holt–Oram syndrome (HOS) is an autosomal dominant disorder affecting 1/100.000 live births. It is defined by upper limb anomalies and congenital heart defects with variable severity. We describe a dramatic phenotype of a male, 15‐month‐old patient being investigated for strict diagnostic criteria of HOS.Methods and resultsGenetic analysis revealed a so far unpublished TBX5 mutation, which occurs de novo in the patient with healthy parents. TBX5 belongs to the large family of T‐box transcription factors playing major roles in morphogenesis and cell‐type specification. The mutation located in the DNA‐binding domain at position 920 (C→A) leads to an amino acid change at position 85 (proline → threonine). Three‐dimensional analysis of the protein structure predicted a cis to trans change in the respective peptide bond, thereby probably provoking major conformational and functional alterations of the protein. The p.Pro85Thr mutation showed a dramatically reduced activation (97%) of the NPPA promoter in luciferase assays and failed to induce NPPA expression in HEK 293 cells compared to wild‐type TBX5 protein. The mutation did not interfere with the nuclear localization of the protein.ConclusionThese results suggest that the dramatic functional alteration of the p.Pro85Thr mutation leads to the distinctive phenotype of the patient.
Atrioventricular valve regurgitation in univentricular heart is more frequently associated with a tricuspid or a common atrioventricular valve, and structural anomalies are the primary cause. Significant atrioventricular valve regurgitation requiring surgery influences survival after total cavopulmonary connection, especially when atrioventricular valve replacement was needed. Surgical management based on mechanisms of regurgitation is mandatory.
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