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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.

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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.

Reactive drug metabolites have been implicated in the pathogenesis of adverse reactions to the aromatic anticonvulsants. A patient presented with a hypersensitivity reaction to the aromatic anticonvulsants which evolved into Stevens-Johnson syndrome and was complicated by the presence of adult respiratory distress syndrome. When the patient’s cells were tested for sensitivity in vitro to reactive metabolites of the aromatic anticonvulsants, they were markedly more sensitive to metabolites of the aromatic anticonvulsants than were the cells of controls (p < 0.05). The adult respiratory distress syndrome has not previously been described as a complication of hypersensitivity reactions to the aromatic anticonvulsants. In vitro testing also demonstrated cross-sensitivity to the anticonvulsants, allowing selection of a therapeutic regimen which would not be associated with a risk of exacerbating the hypersensitivity reaction.