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.

Successful early surgical recruitment of the congenitally disconnected pulmonary artery.

BACKGROUND: Our purpose was to document our experience with early recruitment of congenitally disconnected pulmonary arteries and to assess subsequent pulmonary artery growth and function. METHODS: Patients born in the 10-year period from 1989 to 1999 with a disconnected pulmonary artery diagnosed in infancy and treated in our unit were studied. To be included patients had nonconfluent pulmonary arteries with one or both completely disconnected from the main pulmonary artery. This series did not include patients with acquired stenosis causing occlusion of a pulmonary artery. Echocardiography, cardiac catheterization, MRI, lung perfusion scans, and intraoperative assessment were used to gauge pulmonary artery growth and function. RESULTS: Seven patients with a disconnected pulmonary artery associated with intracardiac conotruncal congenital cardiac disease underwent successful early surgical recruitment of the affected pulmonary artery at 3 months of age or younger. Median follow-up from date of first operation was 4.2 years (range, 1.6 to 13.4). All 7 patients had postrecruitment lung perfusion scans showing a mean of 44% (range, 27% to 78%) of total pulmonary flow through the affected lung. Significant growth in the diameter of the recruited native pulmonary artery was demonstrated in all patients. There were no deaths reported in our series to date. CONCLUSIONS: The rare possibility of a congenitally disconnected pulmonary artery needs to be considered in all patients with a conotruncal cardiac anomaly. To facilitate surgical correction, ensure subsequent growth of the pulmonary artery, and optimize associated lung development, early diagnosis and surgical recruitment is recommended.