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.

The patch material used for reconstruction of the aortic arch in HLHS influences the rate of recoarctation following the Norwood I procedure. Equine pericardium cannot be recommended.

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.

Surgical septal myectomy can be performed safely during infancy with favourable perioperative and long-term clinical outcome but with a trend towards a higher reoperation rate later in life.

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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patient being investigated for strict diagnostic criteria of HOS.Methods and resultsGenetic analysis revealed a so far unpublished TBX5 mutation, which occurs de novo in the patient with healthy parents.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.

OBJECTIVES We evaluated the outcome of patients in cardiogenic shock receiving a paracorporeal pulsatile biventricular assist device as a bridge to transplantation. METHODS We performed a retrospective single-centre analysis of all patients who received a Berlin Heart Excor® at our institution between 2004 and 2019. RESULTS A total of 97 patients (90 adults, 7 paediatric) were analysed. Eighty-four patients were in Interagency Registry for Mechanically Assisted Circulatory Support level 1 (80 adults, 4 paediatric). Diagnoses were dilated cardiomyopathy (n = 41), ischaemic cardiomyopathy (n = 17) or myocardial infarction (n = 4), myocarditis (n = 15), restrictive cardiomyopathy (n = 2), graft failure after heart transplant (n = 7), postcardiotomy heart failure (n = 5), postpartum cardiomyopathy (n = 3), congenital heart disease (n = 1), valvular cardiomyopathy (n = 1) and toxic cardiomyopathy (n = 1). All patients were in biventricular heart failure and had secondary organ dysfunction. The mean duration of support was 63 days (0–487 days). There was a significant decrease in creatinine values after assist device implantation (from 1.83 ± 0.79 to 1.12 ± 0.67 mg/dl, P = 0.001) as well as a decrease in bilirubin values (from 3.94 ± 4.58 to 2.65 ± 3.61 mg/dl, P = 0.084). Cerebral stroke occurred in 16 patients, bleeding in 15 and infection in 13 patients. Forty-eight patients died on support, while 49 patients could be successfully bridged to transplantation. Thirty-day survival and 1-year survival were 70.1% and 41.2%, respectively. CONCLUSIONS A pulsatile biventricular assist device is a reasonable therapeutic option in cardiogenic shock, when immediate high cardiac output is necessary to rescue the already impaired kidney and liver function of the patient.