Milind Chaudhari

Cardiovascular abnormalities in Down's syndrome: spectrum, management and survival over 22 years

Background The prevalence of cardiovascular anomalies in Downs syndrome is well described, but there are few data on spectrum, management and outcome. The authors aimed to provide this information for infants with Downs syndrome in a defined population over a 22-year period. Methods The regional paediatric cardiology database in Newcastle upon Tyne provided information on all cardiovascular anomalies, surgical treatment and outcome. Data was subdivided into two eras, 1985–1995 and 1996–2006, and surgical results and outcomes compared. Data on live births with Downs syndrome were obtained from the Northern Congenital Abnormality Survey (NorCAS). Denominator data on all live births in the region were obtained from UK Statistics. Results In 1985–2006 there were 754,486 live births in the population. 821 infants were live-born with Downs syndrome (1.09 per 1000 live births). 342 (42%) infants with Downs syndrome had a cardiovascular anomaly. The commonest anomaly was complete atrioventricular septal defect in 125 (37%) infants. Three patients had univentricular physiology. In 1985–1995, 101/163 (62%) infants had surgery with 30% mortality; in 1996–2006, 129/180 (72%) had surgery with 5% mortality. One patient underwent Fontan completion. There were two cardiac transplants for cardiomyopathy. One-year survival in Downs syndrome with a cardiovascular anomaly improved from 82% in 1985–1995 to 94% in 1996–2006. Conclusions The incidence of cardiovascular anomalies in Downs syndrome was 42%. There has been a significant reduction in postoperative mortality and improvement in 1-year survival. Treatment modalities such as single ventricle palliation and cardiac transplantation are now considered in these patients.

Recovery of Heart Function in Children With Acute Severe Heart Failure

Background. The prognosis of acute heart failure is such that many children are considered for transplantation. Recovery of severe heart failure in a proportion of patients diagnosed with either dilated cardiomyopathy or myocarditis is well recognized, and this complicates the assessment for transplantation. There is little data on the time scale of recovery of heart function in children. Objectives. To describe the time course over which echocardiographic improvement of systolic function occurred in a cohort of children who presented in acute heart failure, without structural or metabolic abnormality. Methods. Children with a first presentation of acute severe heart failure between 1990 and 2005. Time from presentation to the echocardiogram before left ventricular fractional shortening (FS) improved to 20% and 30% (complete recovery) was recorded. Results. Twenty-seven children (11 male) were identified, and all had an initial FS <15%. Twenty-one patients required intravenous inotropes and three patients required extracorporeal membrane oxygenation. Seven patients had been on the active transplant list for a mean duration of 155 days. Four patients had probable viral myocarditis. Mean age at presentation was 15.7 (range, 0.1–72) months. Mean time to an FS of 20% was 3.6 (0.2–18) months and to 30% was 8.9 (0.7–24) months. Complete recovery occurred within 6, 9, 12, 18, and 24 months of presentation in 44%, 55%, 66%, and 96%, respectively. There was no correlation between age of presentation and length of time to recovery. Conclusions. Complete recovery of left ventricular systolic function is often delayed to more than 1 year from presentation. This may have major implications for timing of transplantation in an era where prolonged mechanical cardiac support is feasible even in infants.

Fatal presentation of congenital isolated left ventricular apical hypoplasia

Congenital isolated left ventricular apical hypoplasia has recently been recognised as a discrete clinical entity with well-defined diagnostic criteria on cardiac magnetic resonance imaging. This spectrum has been described in four previous cases, three of which presented with relatively mild symptoms and one with pulmonary oedema. All of these patients responded to standard medical management. We describe a sudden and fatal presentation of this anomaly in a previously well 19-year-old male, confirming the fact that this is not a benign condition but a spectrum with the potential for significant complications.

Is alternative cardiac surgery an option in adults with congenital heart disease referred for thoracic organ transplantation

OBJECTIVES We analysed the outcomes of adults with congenital heart disease (ACHD) referred for thoracic organ transplantation who underwent non-transplant cardiac surgery as an alternative management option. METHODS Adult patients with congenital heart disease assessed for heart or heart-lung transplant were identified from the departmental database. A retrospective analysis of the medical records, transplant assessment data and surgical notes was carried out. RESULTS One hundred and twenty-six patients were assessed between January 2000 and July 2011. Non-transplant cardiac surgery was performed in 14 (11%) patients. There were nine males with a median age of 37 years (range 21-42). The patients can be divided into four subgroups [left-sided lesions (n = 4), right-sided lesions (n = 3), systemic right ventricle (n = 5) and Fontan circulation (n = 2)]. Surgical procedures performed were: relief of systemic obstructive/regurgitant lesions ± endocardial fibroelastosis resection (n = 4, three pulmonary vascular resistance >6 Wood units), correction of right-sided regurgitant/stenotic lesions (n = 3), ventricular assist device for patients with a systemic right ventricle (n = 5) and re-fashioning of the Fontan pathway (n = 2). There were two early (5 and 30 days) and three late deaths (64, 232 and 374 days) with a 1-year mortality of 28%. None of the deaths occurred in patients with a two-ventricle circulation and atrio-ventricular concordance. Nine patients are alive at a median of 433 days (range 204-2456). The New York Heart Association class has improved in all survivors by at least one class at 3 and 6 months (P = 0.004 and 0.003). CONCLUSIONS Alternative cardiac surgery can be undertaken in selected patients with ACHD referred for cardiopulmonary transplantation with a low mortality in patients with two ventricles and a systemic left ventricle. Ventricular assist devices carry a significant mortality in patients with a systemic right ventricle, although this offers a valuable palliation when there are no other options. The medium and long-term results are awaited.

Impact of mode of failure and end-organ dysfunction on the survival of adult Fontan patients undergoing cardiac transplantation

OBJECTIVES Adults with failing Fontan circulation (FFC) represent a heterogeneous, high-risk group for cardiac transplantation with poor reported outcomes. We studied the impact of mode of Fontan failure (preserved versus impaired systolic ventricular function) and end-organ dysfunction on early survival in adults undergoing cardiac transplantation for FFC. METHODS A single-centre, retrospective study of 26 adults (≥16 years) with FFC undergoing cardiac transplantation between 1990 and 2015. Patients were classified by the presence or absence of preserved systolic ventricular function (PVF). End-organ dysfunction was assessed by serum markers, including albumin, liver ultrasound and the presence of varices, ascites, splenomegaly and thrombocytopaenia (VAST score for portal hypertension). RESULTS Thirty-day survival rate for the entire cohort was 69.2%, with 76.2% survival for the recent era. One-year Kaplan–Meier survival rate was 65.4%. Actuarial survival was poorer in those with PVF or heterotaxy (P = 0.01; log-rank test). Cox multivariable regression analysis confirmed PVF as an independent predictor for death (odds ratio, OR 5.38; confidence interval, CI 1.08–26.96; P = 0.04). In examining the PVF subset further, these patients had significantly higher VAST and liver ultrasound scores and lower serum albumin, compared with patients with impaired function. Patients with PVF and ≥moderate liver fibrosis on ultrasound or VAST score ≥2 accounted for two-thirds of the total mortality. CONCLUSIONS Favourable cardiac transplantation outcomes can be achieved in adults with failing Fontan circulation. Patients with PVF may represent a distinct subset with more perturbed failing Fontan physiology and higher cardiac transplant mortality. We continue, however, to evolve and refine our strategies and are optimistic concerning future improvement in outcomes even in those with PVF.

Enlarged bronchial collateral artery complicating recovery after arterial switch for simple transposition of the great arteries

Enlarged bronchial collateral arteries can lead to significant left to right shunting resulting in pulmonary hypercirculation and hypoxemia and may complicate postoperative recovery after uneventful surgical repair. We describe a case of simple transposition of the great arteries in which the postoperative course was complicated by the presence of an enlarged bronchial collateral artery causing pulmonary oedema necessitating prolonged mechanical ventilatory support. Successful coil embolisation of the bronchial collateral resulted in resolution of the pulmonary oedema and successful extubation.

Hypertrophic cardiomyopathy and transposition of great arteries associated with maternal diabetes and presumed gestational diabetes

Maternal diabetes mellitus affects the foetal heart both structurally and functionally. In early gestation, it has a teratogenic effect causing defects of primary cardiogenesis. In late gestation, it causes a unique form of hypertrophic cardiomyopathy. We report an infant of a diabetic mother and an infant where there was presumed gestational diabetes during the pregnancy who presented with combined severe hypertrophic cardiomyopathy and complex transposition of the great arteries. This rare combination of structural and functional cardiac abnormalities reflects the different mechanisms and timings of injury that may occur to the foetal heart in association with maternal diabetes and has not been previously reported. The combination has significant implications regarding medical and surgical management, and necessitates prolonged supportive therapy whilst awaiting regression of the hypertrophic cardiomyopathy followed by delayed arterial switch operation.

Towards an anatomically correct repair for anomalous left coronary artery arising from the pulmonary trunk

BACKGROUND Anomalous origin of the left coronary artery from the pulmonary trunk is rare, occurring at an incidence of 1 in 300,000. If not diagnosed and treated early, it is life-threatening. Children with the anomaly usually present in infancy with congestive cardiac failure, and are occasionally referred for cardiac transplant. We investigated the medium term outcome for patients following creation of a two-coronary arterial circulation. METHODS Between 1992 and 2007, we diagnosed 15 patients seen at our Institution as having anomalous origin of the left coronary artery from the pulmonary trunk. Over a period of 13 years, aortic reimplantation was undertaken in 12 of these patients, who form the studied cohort. RESULTS Direct reimplantation was performed in 5 patients. In 3 cases, a tension-free anastomosis was created using a caudally based flap. In another 3 cases, an extended flap was used, while a patch arterioplasty was fashioned in the final patient. There were no deaths. Left ventricular function recovered in all but one of the patients, and all patients had a reduction in the degree of mitral regurgitation. CONCLUSIONS Among the variety of surgical techniques, transfer of the anomalous left coronary artery to the aorta is the ideal method for long-term patency and adequate blood supply. This can be achieved by creating flaps based on the walls of the pulmonary trunk and aorta, producing a dual coronary arterial supply with no mortality and low morbidity.

Prostaglandin therapy for ductal patency: how long is too long?

The management of neonates born with duct‐dependent congenital heart defects in association with prematurity or low birth weight is challenging. We describe two preterm and low birth weight infants with duct‐dependent congenital heart disease where cardiac surgery was successfully delayed by maintaining ductal patency using a prolonged prostaglandin infusion. This allowed time for growth and maturation and therefore reduced the risks associated with surgery and cardiopulmonary bypass.

Single-centre experience of 101 paediatric and adult Ross procedures: mid-term results

We aimed to determine outcomes for the Ross procedure in paediatric and adult patients, with particular emphasis on survival, complication and reintervention rates. A retrospective review of 101 patients who had the Ross procedure in a congenital cardiac surgical centre serving a population of approximately 2.5 million was performed. There were 69 adults and 32 children with a mean age of 24.8 ± 13.9 years. Indications for surgery were aortic stenosis (48), regurgitation (10), mixed disease (35) and complex left outflow tract obstruction (8). The mean follow-up duration was 4.7 ± 3.7 years. The mini-inclusion technique was used to incorporate the autograft, and in all cases, pulmonary homografts were placed in the right ventricular outflow tract. Sub-aortic resection was also performed in six and Ross-Konno operations in eight patients. There were no early deaths and there was one late death secondary to endocarditis. Freedom from reintervention was 92% at 5 years and 77% at 10 years. Children were significantly more likely to require reintervention (16%, 5 of 32 versus 4%, 3 of 69, P = 0.05). The Ross procedure carries low early and mid-term mortality, and reintervention rates appear acceptable. The Ross procedure should be considered a feasible alternative to prosthetic valves in patients who require aortic valve replacement.