An Unusual Combination of Truncus Arteriosus, Interrupted Aortic Arch, and Hypoplastic Left Ventricle.

Truncus arteriosus (common arterial trunk) is known to be associated with interrupted aortic arch in 10% to 15% of cases. However, the association of either of these lesions with a hypoplastic left ventricle is rare. The combination of all three of these lesions along with an intact interventricular septum is virtually unknown with only two cases reported in the literature. We report such a case with its anatomical and surgical management aspects.

Parents' perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance.

PURPOSE: We sought to identify the demographic, clinical, and psychological factors associated with parents' attendance at clinical genetics services for congenital heart disease. METHODS: A survey assessing access to cardiac genetics services and a range of other variables was sent to the families of 213 children diagnosed with congenital heart disease between the years 2000 and 2009 at the Sydney Children's Hospital, Australia. RESULTS: Of the 114 respondents, 22% had accessed cardiac genetics services. Variables strongly associated with service attendance included presence of a syndrome associated with congenital heart disease (odds ratio = 17.93; P < 0.001) and antenatal diagnosis of congenital heart disease (odds ratio = 4.13; P = 0.02). Most participants (87%) perceived genetic factors as "quite" or "extremely important" in the development of congenital heart disease, and many (73%) believed that receiving information about congenital heart disease and genetics was "quite" or "extremely important"; however, only 36% of participants could recall receiving information of this nature. Forty-two percent of parents reported current concerns about their child's health, and a substantial subset reported levels of depression (26%), anxiety (27%), and stress (32%) warranting clinical attention. CONCLUSION: There is a strong desire among parents of children with congenital heart disease for greater information about the role of genetic factors; however, most families do not access cardiac genetics services and report limited recall of information gathered from other sources.

Hypoplastic left heart syndrome in context.

Hypoplastic left heart syndrome is a rare condition requiring major cardiac surgery during the neonatal period to sustain life, with subsequent procedures culminating in completion of the Fontan circulation - the common pathway for all 'single ventricle' conditions. Algorithms for care of these children are now well defined with predictable medium-term outcomes with the majority achieving a Fontan circulation. Hypoplastic left heart syndrome is one of a group of conditions that require complex surgery as a neonate and require a similar perioperative approach. Antenatal diagnosis is common in this patient subgroup, and there is a significant body of work that can be drawn on to inform parental choice.

Outcomes following surgery for congenital heart disease in low-birthweight infants.

AIM: To describe cardiac surgery, survival and outcomes for low-birthweight (< or = 2500 g) infants undergoing surgery for congenital heart disease. METHODS: Using data from a prospectively collected population-based database of admissions to neonatal intensive care units in New South Wales and the Australian Capital Territory, we identified all low-birthweight infants undergoing cardiac surgery between 1992 and 2001. Infants with only a persistent ductus arteriosus were excluded. Two-year cardiac and neurodevelopmental outcome data were sought from hospital medical records. RESULTS: A total of 121 low-birthweight infants underwent cardiac surgery, of whom 34% had a congenital syndrome or non-cardiac birth defect. Most (81%) underwent a palliative surgical procedure in the neonatal period. There were 19 early (15.7%) and 19 late deaths giving a 2-year mortality of 31%. Factors associated with mortality included birthweight below 1500 g (P = 0.006), low weight at surgery (P = 0.028) and Apgar score at 1 min (P = 0.019). No single factor predicted 30-day mortality. By 2 years of age, 27 (33% of survivors) were known to have neurodevelopmental delay. Although 22 children are known to be developing normally, the neurodevelopmental status of 34 children was not known. CONCLUSIONS: These surgical data were comparable to previous single-institution studies. This group had a high risk of disability due to prematurity, low birthweight and associated conditions. There is a need to prospectively assess and manage neurodevelopmental outcomes in this group.

Mid-term results for double inlet left ventricle and similar morphologies: timing of Damus-Kaye-Stansel.

BACKGROUND: Patients with double inlet left ventricle/l-transposition and similar morphologies have their systemic outflow traverse a bulboventricular foramen (BVF), which has a propensity to narrow over time. A Norwood procedure may be performed as the initial palliation. We prefer aortic arch repair and pulmonary artery banding, delaying Damus-Kaye-Stansel (DKS) or BVF resection until the second palliation. The aims of this study were to compare our results with those reported for Norwood strategy and examine the development of systemic outflow obstruction. METHODS: Retrospective study of patients with double inlet left ventricle, L-TGA or similar morphology presenting between 1990 and 2000. Follow-up with clinical assessment, echocardiography and catheter studies. RESULTS: Twenty-five patients had initial palliation with pulmonary artery banding with repair of any associated arch obstruction. Twelve patients had DKS performed as part of their second stage procedure, and 3 had DKS performed later for recurrent stenosis after prior enlargement of BVF. Six patients had BVF resection without later restenosis and 4 patients did not develop BVF stenosis. There was one early death (4%) and two late (8%). Fontan completion was achieved in 20 of the 22 survivors. There were no cases of DKS obstruction, no pulmonary valve had more than mild regurgitation. CONCLUSIONS: Our approach achieves low operative mortality and morbidity and compares favorably with reported results for Norwood palliation. The significant rate of systemic outflow obstruction in those who did not undergo DKS at the second stage confirms the utility of early DKS in children with this morphology.

Human immunodeficiency virus-related primary central nervous system lymphoma: factors influencing survival in 111 patients.

BACKGROUND: The current study evaluated factors influencing survival in patients diagnosed with human immunodeficiency virus (HIV)-related primary central nervous system lymphoma (PCNSL), with a focus on the effects of therapeutic radiotherapy (RT) and highly active antiretroviral therapy (HAART). METHODS: A retrospective chart review of patients with a diagnosis of HIV-related PCNSL at one of five university hospitals between 1987 and 1998 was performed. Clinical details including antiretroviral agent use, brain imaging scan results, RT use, and survival outcomes were recorded. RESULTS: One hundred eleven patients with HIV-related PCNSL were identified. The annual incidence decreased significantly between 1992 and 1995 and between 1996 and 1998 (P = 0.04). The median survival period was 50 days (mean, 109 days; range, 4-991 days), with improved survival for patients diagnosed after 1993. Patients treated with two or more antiretroviral agents had improved survival (P = 0.01), as did patients who received RT (P < 0.0001). For patients who received RT, completion of the prescribed course and treatment to > or = 30 Gray (Gy) independently predicted a more favorable outcome. RT used in conjunction with antiretroviral therapy involving two or more agents had an additive positive effect on survival. For patients who did not receive RT, poor performance status and encephalopathy predicted a shorter survival duration. CONCLUSIONS: The results of the current study suggest that HAART and treatment with RT to > or = 30 Gy improve survival for patients with HIV-related PCNSL. This combination of therapies may provide a standard of care as the basis for further trials of chemotherapy, novel adjunctive treatment, and quality of life assessment.