We determined the relationship between aortic arch anatomy in tetralogy of Fallot with pulmonary stenosis and chromosomal or genetic abnormality, by performing analysis of 257 consecutive patients undergoing surgical repair from January, 2003 to March, 2011. Chromosomal or genetic abnormality was identified in 49 of the 257 (19%) patients. These included trisomy 21 (n = 14); chromosome 22q11.2 deletion (n = 16); other chromosomal abnormalities (n = 9); CHARGE (n = 2); Pierre Robin (n = 2); and Kabuki, Alagille, Holt–Oram, Kaufman McKusick, Goldenhar, and PHACE (n = 1 each). Aortic anatomy was classified as left arch with normal branching, right arch with mirror image branching, left arch with aberrant right subclavian artery, or right arch with aberrant left subclavian artery. Associated syndromes occurred in 33 of 203 (16%) patients with left arch and normal branching (odds ratio 1); three of 36 (8%) patients with right arch and mirror image branching (odds ratio 0.4, 95% confidence interval 0.1–1.6); seven of eight (88%) patients with left arch and aberrant right subclavian artery (odds ratio 36, 95% confidence interval 4–302); and six of 10 (60%) patients with right arch and aberrant left subclavian artery (odds ratio 8, 95% confidence interval 2–26). Syndromes were present in 13 of 18 (72%) patients with either right or left aberrant subclavian artery (odds ratio 15, 95% confidence interval 4–45). Syndromes in patients with an aberrant subclavian artery included trisomy 21 (n = 4); chromosome 22q11.2 deletion (n = 5); and Holt–Oram, PHACE, CHARGE, and chromosome 18p deletion (n = 1 each). Aberrant right or left subclavian artery in tetralogy of Fallot with pulmonary stenosis is associated with an increased incidence of chromosomal or genetic abnormality, whereas right aortic arch with mirror image branching is not. The assessment of aortic arch anatomy at prenatal diagnosis can assist counselling.

Background: Aortic root dilation has been observed in some patients with tetralogy of Fallot. This study examines whether 22q11.2 deletion is a risk factor for aortic root dilation in tetralogy of Fallot. Methods: Patients with tetralogy of Fallot, in the age group of 6–18 years, with defined deletion status and echocardiograms (2003–2009) were identified from research databases. The diameter at the aortic annulus, sinus, and sinotubular junction was measured and analysed as Z-scores. Variables were examined in univariate and multivariate regression analysis. Results: Of 171 patients, 66% were male, 16% had 22q11.2 deletion, 40% had an aortic arch anomaly, and 11% had both a 22q11.2 deletion and aortic arch anomaly. Echocardiograms were performed at a mean age of 12 + 3 years. More patients with 22q11.2 deletion had Z-scores >3 at the sinus diameter (45% versus 35%, p = 0.02). In the multivariate analysis, the combination of 22q11.2 deletion and aortic arch anomalies was associated with both aortic annular dilation (p = 0.006) and aortic sinus dilation (p = 0.05). In the subset with pulmonary valve atresia, similar findings were observed at the aortic annulus (Z-score of 4.6 versus 2.2, p = 0.05) and the sinuses (Z-score of 4.4 versus 2.7, p = 0.06). Male sex (p < 0.03) and pulmonary atresia (p < 0.006) were additional risk factors for dilation at the annulus and sinuses. Conclusions: Children with tetralogy of Fallot with 22q11.2 deletion and aortic arch anomalies have increased aortic annular and aortic sinus dilation. Further longitudinal study is needed to assess whether both features are associated with progressive aortic root dilation.

Late dysfunction of the systemic right ventricle in patients with complete transposition of the great arteries after Mustard or Senning procedures and progressive deterioration of the clinical status has been demonstrated. However, evidence-based data on the effective therapy for systemic right ventricular dysfunction in these patients are yet to be defined. Our patient shows an improvement in the right ventricular systolic function, with a reduction in tricuspid regurgitation and a consequent better exercise tolerance after a hybrid approach consisting of an upgrading of a previous transvenous-implanted dual-chamber Implantable Cardiac Defibrillator to biventricular pacing associated with pulmonary artery banding via an anterior thoracotomy.

Purpose: The aim of this study was to investigate the frequency and gender distribution of variations in the aortic arch branching pattern using 64-slice computed tomograhic angiography. Materials and methods: A total of 1000 patients with a normal left-sided aortic arch who underwent computed tomographic angiography for various reasons were analysed retrospectively for the frequency of variation of aortic arch branching; the variations were categorised into seven types. Results: Of the 1000 patients, 79.2% had a normal aortic arch branching pattern – type 1 – and 20.8% had variations. The frequency of type 2 variation – brachiocephalic and left common carotid arteries arising from the aortic arch in a common trunk – was 14.1%, that of type 3 – left vertebral artery originating from the aortic arch – was 4.1%, that of type 4 – coexistence of type 2 and type 3 – was 1.2%, that of type 5 – aberrant right subclavian artery – was 0.6%, that of type 6 – coexistence of aberrant right subclavian artery and bicarotid trunk – was 0.7%, and that for type 7 – thyroidea ima artery arising from the aortic arch – was 0.1%. The incidences of the variations of aortic arch branching were similar among males and females (20% versus 22.1%). The incidence of an aberrant right subclavian artery – type 5 and type 6 – was higher among females compared with males (2.5% versus 0.5), whereas the frequencies of the other variations were either equal or similar in both genders. Conclusion: Recognition of variations of aortic arch branching is important because they may cause symptoms due to tracheoesophageal compression or complications during surgical or endovascular interventional procedures of the aorta and its branches.

Background: In some inherited connective tissue diseases with involvement of the cardiovascular system, for example, Marfan syndrome, early impairment of left ventricular function, which have been described as Marfan-related cardiomyopathy has been reported. Our aim was to evaluate the left ventricular function in young adults with mitral valve prolapse without significant mitral regurgitation using two-dimensional strain imaging and to determine the possible role of the transforming growth factor-β pathway in its deterioration. Methods: We studied 78 young adults with mitral valve prolapse without mitral regurgitation in comparison with 80 sex-matched and age-matched healthy individuals. Longitudinal strain and strain rates were defined using spackle tracking. Concentrations of transforming growth factor-β1 and β2 in serum were determined by enzyme-linked immunosorbent assays. Results: In 29 patients, classic relapse was identified with a leaflet thickness of ≥ 5 mm; 49 patients had a non-classic mitral valve prolapse. Despite the similar global systolic function, a significant reduction in global strain was found in the classic group (−15.5 ± 2.9%) compared with the non-classic group (−18.7 ± 3.8; p = 0.0002) and the control group (−19.6 ± 3.4%; p < 0.0001). In young adults with non-classic prolapse, a reduction in longitudinal deformation was detected only in septal segments. Transforming growth factor-β1 and β2 serum levels were elevated in patients with classic prolapse as compared with the control group and the non-classic mitral valve prolapse group. Conclusions: These changes in the deformations may be the first signs of deterioration of the left ventricular function and the existence of primary cardiomyopathy in young adults with mitral valve prolapse, which may be caused by increased transforming growth factor-β signalling.

Neonatal critical aortic stenosis is a rare form of CHD that often presents with cardiogenic shock. Although surgical and cardiac catheterisation-based interventions have been successful in alleviating left ventricular outflow tract obstruction, it remains associated with high morbidity and mortality. Critical aortic stenosis results in elevated left ventricular wall stress, which ultimately increases myocardial oxygen consumption and disrupts coronary artery perfusion during diastole, leading to ventricular dysfunction and cardiogenic shock. Critical care management before definitive intervention should be tailored to optimising oxygen delivery and reducing metabolic consumption of the myocardium and peripheral organ systems. This can be accomplished with prostaglandin infusion to maintain system perfusion through patency of the arterial duct, inotropic support, mechanical ventilation, and central nervous system abrogation. Management should also include a multi-specialty medical team including paediatric cardiothoracic surgeons and paediatric cardiologists with expertise in cardiac catheterisation, imaging, and transplantation.

Background: Patients with a functionally univentricular heart, palliated a.m. Fontan, consequently have non-pulsatile pulmonary blood flow and are known to have a reduced pulmonary diffusing capacity. However, the cause of this reduction remains unclear. We aimed to assess the possible determinants in the aetiology of a reduced diffusing capacity and also to assess whether it could be increased. Furthermore, we aimed to search for predictors of a reduced diffusing capacity. Material and methods: A total of 87 Fontan patients (mean age 16.3 ± 7.6 years) performed advanced pulmonary function tests and maximal cycle ergometer tests. A total of 10 Fontan patients and nine matched controls performed a supine pulmonary function test after a supine rest. Results: In the sitting pulmonary function test, the mean z-scores were: diffusing capacity, 2.38 ± 1.20; pulmonary capillary blood volume, 2.04 ± 0.80; and alveolar capillary membrane diffusing capacity, 0.14 ± 0.84. In the supine compared with the sitting pulmonary function test, the diffusing capacity increased by 51.7 ± 11.9% in the Fontan group and by 23.3 ± 17.7% in the control group (p < 0.001); moreover, the pulmonary capillary blood volume increased by 48.3 ± 17.4% in the Fontan group and by 20.2 ± 13.9% in the control group (p = 0.001). In a multiple linear regression analysis including the explanatory variables of surgical data and exercise data at rest and peak exercise, the resting cardiac index was an independent predictor of the diffusing capacity (regression coefficient: 0.18, p < 0.001). Conclusions: The pulmonary diffusing capacity was reduced in Fontan patients because of a reduced pulmonary capillary blood volume, whereas the alveolar capillary membrane diffusing capacity was preserved. The diffusing capacity was highly increasable in Fontan patients compared with controls, and the resting cardiac index was an independent predictor of the diffusing capacity.

Background: Hypertrophic cardiomyopathy is an important cause of disability and death in patients of all ages. Egyptian children may differ from Western and Asian patients in the pattern of hypertrophy distribution, clinical manifestations, and risk factors. Objectives: The aim of our study was to report the clinical characteristics and outcomes of Egyptian children with hypertrophic cardiomyopathy studied over a 7-year duration and to determine whether the reported adult risk factors for sudden cardiac death are predictive of the outcome in these affected children. Study design and methods: This retrospective study included 128 hypertrophic cardiomyopathy children. The data included personal history, family history, physical examination, baseline laboratory measurements, electrocardiogram, and Holter and echocardiographic results. Logistic regression analysis was used for the detection of risk factors of death. Results: Fifty-one out of 128 patients died during the period of the study. Of the 51 deaths, 36 (70.5%) occurred in patients presenting before 1 year of age. Only eight patients had surgical intervention. Extreme left ventricular hypertrophy, that is, interventricular septal wall thickness or posterior wall thickness Z-score >6, sinus tachycardia, and supraventricular tachycardia were found to be independent risk factors for prediction of death in patients with hypertrophic cardiomyopathy. Conclusions: At our Egyptian tertiary care centre, hypertrophic cardiomyopathy has a relatively worse prognosis when compared with reports from Western and Asian series. Infants have a worse outcome than children presenting after the age of 1 year. A poorer prognosis in childhood hypertrophic cardiomyopathy is predicted by an extreme left ventricular hypertrophy, the presence of sinus tachycardia, and supraventricular tachycardia.

Objectives: The aim of this study was to determine the timing of neonatal cardiac intervention in babies with antenatally diagnosed congenital heart disease and the impact on obstetric management. Methods: A retrospective review of all deliveries between January, 2008 and December, 2009 was conducted in a tertiary centre with foetal and paediatric cardiology, maternal–foetal medicine, and obstetric units. All live births with antenatally detected congenital heart disease were included. Data were collected from foetal, paediatric cardiology, and maternity databases and records. Induction, delivery mode, and timing of the first cardiac intervention in the neonate were studied. Results: 205 deliveries were included. Induction and elective Caesarean section rates were 51.2% (105/205) and 14.1% (29/205), respectively. The vaginal delivery rate was 56% (115/205). There was a non-significant trend towards a higher rate of vaginal delivery after spontaneous labour than after induction (75% versus 66%; p = 0.234). The rate of neonatal cardiac intervention during the initial stay was 59.5% (122/205); it was 18.5% (38/205) within 48 hours and 25.8% (53/205) within 72 hours. The median time to first intervention was 4 days (interquartile range 2–8). Babies with hypoplastic left heart syndrome (median 3, interquartile range 2–6), transposition of the great arteries (median 1, interquartile range 0–4.5), and arrhythmia (median 0.5, interquartile range 0–1) had a significantly earlier time to first intervention compared with those with other conditions (p = 0.001). Conclusion: Vaginal delivery can be achieved in women delivering babies with major congenital heart disease at a tertiary centre. Delivery in or near a tertiary centre is recommended for patients requiring early intervention, of which many can be identified in advance.

Neonatal aortic valvar stenosis can be challenging to treat because of the varied morphology of the valve, the association with hypoplasia of other left heart structures, and the presence of left ventricular systolic dysfunction or endomyocardial fibroelastosis. Balloon valvuloplasty and surgical valvotomy have been well described in the literature for the treatment of neonatal aortic stenosis. Transcatheter therapy for neonatal aortic stenosis is the preferred method at many centres; however, some centres prefer a surgical approach. Balloon valvuloplasty for neonatal aortic stenosis is reviewed in this manuscript, including the history of the procedure, technical aspects, and acute and long-term outcomes.