Hereditary haemorrhagic telangiectasia and SMAD4 mutation in a patient with complex single ventricle heart disease.

We report a case of hypoplastic left heart syndrome and with subsequent aortopathy and then found to have hereditary haemorrhagic telangiectasia/juvenile polyposis syndrome due to a germline SMAD4 pathologic variant. The patient's staged palliation was complicated by the development of neoaortic aneurysms, arteriovenous malformations, and gastrointestinal bleeding thought to be secondary to Fontan circulation, but workup revealed a SMAD4 variant consistent with hereditary haemorrhagic telangiectasia/juvenile polyposis syndrome. This case underscores the importance of genetic modifiers in CHD, especially those with Fontan physiology.

A Technique for Safe Redo Sternotomy in Patients with Aortic Proximity to the Sternum.

The risk of redo sternotomy is greatly elevated in the setting of aortic proximity to the sternum. Current strategies to avoid catastrophic neurologic injury upon sternal reentry include establishment of peripheral bypass with the use of deep hypothermia and low-flow bypass, both of which may increase risk of neurologic complications. Here, we describe a technique for safe sternal reentry and illustrate its successful use in a patient with close proximity of the aorta to the sternum. With this technique, peripheral cardiopulmonary bypass is established prior to sternal reentry via cannulation of the right axillary artery and femoral vein, and the patient is cooled as the innominate artery is dissected, mobilized, and controlled. This permits the rapid institution of selective antegrade cerebral perfusion (SACP) in the event of aortic injury during sternal reentry. Once the innominate artery is isolated and SACP is initiated, one can safely complete the redo sternotomy, dissection, and distal ascending aortic cross-clamping to continue the operation without interruption in cerebral blood flow. This technique offers a safe approach in select patients and should be utilized in similar high-risk cases.

Hearing Loss after Cardiac Surgery in Infancy: An Unintended Consequence of Life-Saving Care.

OBJECTIVES: To investigate the prevalence of hearing loss after cardiac surgery in infancy, patient and operative factors associated with hearing loss, and the relationship of hearing loss to neurodevelopmental outcomes. STUDY DESIGN: Audiologic and neurodevelopmental evaluations were conducted on 348 children who underwent repair of congenital heart disease at the Children's Hospital of Philadelphia as part of a prospective study evaluating neurodevelopmental outcomes at 4 years of age. A prevalence estimate was calculated based on presence and type of hearing loss. Potential risk factors and the impact of hearing loss on neurodevelopmental outcomes were evaluated. RESULTS: The prevalence of hearing loss was 21.6% (95% CI, 17.2-25.9). The prevalence of conductive hearing loss, sensorineural hearing loss, and indeterminate hearing loss were 12.4% (95% CI, 8.8-16.0), 6.9% (95% CI, 4.1-9.7), and 2.3% (95% CI, 0.6-4.0), respectively. Only 18 of 348 subjects (5.2%) had screened positive for hearing loss before this study and 10 used a hearing aid. After adjusting for patient and operative covariates, younger gestational age, longer postoperative duration of stay, and a confirmed genetic anomaly were associated with hearing loss (all P < .01). The presence of hearing loss was associated with worse language, cognition and attention (P <.01). CONCLUSIONS: These findings suggest that the prevalence of hearing loss in preschool children after heart surgery in infancy may be 20-fold higher than in the 1% prevalence seen in the general population. Younger gestational age, presence of a genetic anomaly, and longer postoperative duration of stay were associated with hearing loss. Hearing loss was associated with worse neurodevelopmental outcomes.