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.

An Australian tuberous sclerosis cohort: are surveillance guidelines being met?

AIM: This study aims to describe the phenotypic and genotypic characteristics of 45 Australian patients with tuberous sclerosis complex (TSC), to assess risk factors for intellectual disability, to compare patients with TSC1 and TSC2 mutations and to assess adherence to surveillance recommendations. METHODS: Phenotypic features were recorded in 45 patients who fulfilled established criteria for a diagnosis of definite TSC. All patients underwent TSC1 and TSC2 sequencing and multiplex ligand probe amplification. Features were compared in patients with TSC1 mutations versus TSC2 mutations. Recent surveillance was recorded at the point of first contact. Surveillance adherence was compared in the adult and paediatric cohorts. RESULTS: This cohort consisted of 31 children and 14 adults with definite TSC. The rates of TSC manifestations and TSC1 and TSC2 mutation detection rates were consistent with previous studies. There was a trend towards greater severity for patients with TSC2 mutations compared with their TSC1 counterparts, particularly for autistic spectrum disorder, but this did not reach statistical significance. The presence of seizures was shown to be a risk factor for intellectual disability (P < 0.001). Overall, 12/45 patients (27%) were not undergoing recommended surveillance at the point of first contact. Surveillance guidelines were being followed in 3/31 (11%) children compared with 9/14 (64%) adult patients (P < 0.05). CONCLUSIONS: The genotypic and phenotypic characteristics of this TSC cohort were consistent with previous studies. Surveillance rates in adult patients were significantly lower than in paediatric patients. This highlights the need for patients with TSC to undergo a focussed transition into adult services.

Prophylactic left thoracic sympathectomy to prevent electrical storms in CPVT patients needing ICD placement.

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a life threatening arrhythmia induced by sympathetic stimulation in susceptible individuals is often refractory to antiarrhythmic agents. First line of treatment, beta-blockers can be ineffective in up to 50% with implantable cardioverter-defibrillator (ICD) placement for refractory cases. Paradoxically ICD can be arryhthmogenic from shock-associated sympathetic stimulation, initiating more shocks and "electrical storms". This has led to the use of more effective beta blockade offered by left sympathectomy, now performed by minimally invasive video assisted thoracoscopic surgery (VATS). Sympathectomy has been traditionally performed long after ICD placement, after the patient has experienced multiple shocks, thus necessitating two procedures. We report simultaneous ICD insertion and thoracoscopic sympathectomy in a 10 year-old boy with CPVT, and suggest it as a better approach than sequential procedures. To our knowledge this is first such reported case.

Impact of early and standardized treatment with amiodarone on therapeutic success and outcome in pediatric patients with postoperative tachyarrhythmia.

OBJECTIVE: Effects of timing of inception of amiodarone antiarrhythmic treatment after corrective surgery for congenital heart defects are not yet well defined. METHODS: In a 10-year prospective observational study, 71 of 2651 patients (2885 procedures, 2106 bypass procedures) received amiodarone for newly detected postoperative atrial (n = 70) or ventricular (n = 7) tachyarrhythmia: early treatment (initiation within 60 minutes of arrhythmia detection) and late treatment (after that). From an interim analysis, a treatment protocol was established (32 patients). Inotropic requirements were monitored, as were heart rate, blood pressure, central venous pressure, and sedation requirements. RESULTS: With early treatment (n = 29), delay before start of amiodarone was 40.7 +/- 21.9 minutes, versus 227.7 +/- 228.1 minutes (P < .001) with late treatment (n = 42). There were significant benefits of early treatment for times to rate (155.9 +/- 299.8 vs 407.6 +/- 376.9 minutes, (P < .001) and rhythm control (400.4 +/- 845 vs 1038.5 +/- 1158.4 minutes, P < .001), reduction in dose needed for rate control (28.2 +/- 45.2 vs 66.5 +/- 137.5 mg, P < .025), and significant reduction in pediatric cardiac intensive care unit stay (3.32 +/- 1.9 vs 5.26 +/- 4.27 days, P < .01). There were continuous improvements in heart rate, blood pressure, and filling pressures without additional inotropic requirements or side effects. CONCLUSION: Early treatment of postoperative tachyarrhythmia with amiodarone according to a standardized treatment protocol is safe and has beneficial effects on arrhythmia control and pediatric cardiac intensive care unit stay.

Acute hemodynamic effects of intravenous amiodarone treatment in paediatric cardiac surgical patients.

INTRODUCTION: The haemodynamic response after an IV-loading dose of amiodarone followed by continuous infusion for various supraventricular and ventricular tachycardias was studied in children immediately after corrective surgery for congenital heart defects. METHODS: Observational study over a 10-year period. Seventy-one out of 2651 patients (2,885 procedures, 2,106 bypass procedures) received amiodarone therapy for newly detected postoperative tachyarrhythmias. All patients received catecholamine infusions as standard post-op therapy to support cardiac function and output. In most cases a loading dose of amiodarone was given over 1-4 h followed by a continuous infusion. Catecholamine infusion dose requirements were monitored as was heart rate, blood pressure, central venous pressure, and sedation dose requirements pre treatment and at 0.5, 1, 2, 4, 8, 12 and 24 h after the begin of the amiodarone administration. RESULTS: After 1 h there was a significant decrease of heart rate from 194.5 bpm (+/-31.9) to 157.5 bpm (+/-34.3) and an increase of the mean arterial blood pressure from 52.8 (+/-11.4) to 56.0 (+/-9.8) mmHg, with a subsequent decrease of filling pressures. The catecholamine dose required could be decreased as could the dose for sedation. Rate control was achieved at 277.4 min (+/-344) and rhythm control at 685.8 min (+/-988.5) respectively. Based on a preliminary interim analysis a specific treatment protocol was established and used in 32 patients. CONCLUSION: A slow bolus administration of 5 mg/kg amiodarone over at least 60 min followed by one or two additional boluses or a continuous infusion with 10-20 mg/kg day(-1) is a safe treatment strategy without the need for additional inotropic support and with dramatic improvement of heart rate, blood pressure and filling pressures. This protocol can be recommended for paediatric patients in the early postoperative setting.

Successful use of surfactant to treat severe intrapulmonary hemorrhage after iatrogenic lung injury--A case report.

OBJECTIVE: To describe the beneficial clinical effect of the use of surfactant in a patient with severe unilateral pulmonary hemorrhage after iatrogenic lung injury during corrective surgery for congenital heart defects. DESIGN: Case report. SETTING: Pediatric cardiac intensive care unit of a tertiary care hospital. PATIENT: An 11-wk-old boy. INTERVENTIONS: Intratracheal instillation of 4 mL (100 mg) of surfactant (Survanta) per kilogram of body weight to treat profound and refractory hypoxia and hypercapnia despite high-ventilation pressures, high respiratory rate, and the use of nitric oxide caused by severe pulmonary hemorrhage and atelectasis. MEASUREMENTS AND MAIN RESULTS: The aggressive ventilation variables could be reduced within the following 2 hrs after surfactant use (from Fio2 0.8, peak inspiratory pressure 36 cm, positive end-expiratory pressure 10 cm, respiratory rate 50, tidal volume 63 mL, and nitric oxide 10 ppm to Fio2 0.4, peak inspiratory pressure 28 cm, positive end-expiratory pressure 10, respiratory rate 40, tidal volume 38 mL, and nitric oxide 5 ppm). There was rapid improvement of clinical variables (inotropic support, chest radiograph) as well as oxygenation (Pao2 from 56 to 149 mm Hg), CO2 exchange (Paco2 from 85 to 39 mm Hg), and acidosis (from pH 7.13 to 7.44). CONCLUSIONS: The administration of surfactant may be a promising approach to treat severe respiratory failure caused by severe pulmonary hemorrhage.

Clinical review: thyroid hormone replacement in children after cardiac surgery--is it worth a try?

Cardiac surgery using cardiopulmonary bypass produces a generalized systemic inflammatory response, resulting in increased postoperative morbidity and mortality. Under these circumstances, a typical pattern of thyroid abnormalities is seen in the absence of primary disease, defined as sick euthyroid syndrome (SES). The presence of postoperative SES mainly in small children and neonates exposed to long bypass times and the pharmacological profile of thyroid hormones and their effects on the cardiovascular physiology make supplementation therapy an attractive treatment option to improve postoperative morbidity and mortality. Many studies have been performed with conflicting results. In this article, we review the important literature on the development of SES in paediatric postoperative cardiac patients, analyse the existing information on thyroid hormone replacement therapy in this patient group and try to summarize the findings for a recommendation.

Beneficial hemodynamic response of transthoracic cardiac pacing in a 2 kg preterm neonate.

OBJECTIVE: To describe the beneficial hemodynamic effect of transthoracic external pacing compared with epicardial pacing in a 2 kg premature neonate with congenital complete heart block, hydrops and complex congenital heart disease. METHODS: Transthoracic epicardial pacing was instituted at a rate of 120 beats/min to treat life-threatening bradycardia (HR 50-60 beats/min), hypotension (BP 45/20 mmHg) and severe lactic acidosis (pH 7.18, lactate 7.5 mmol/l) despite significant catecholamine support. Due to the size of the patient, the external pacing electrodes were placed on the back and front of the patient's chest. To achieve ventricular capture, the electric output had to be increased to 140 mA, resulting in symmetric chest movements. RESULT: Transthoracic pacing resulted in an immediate improvement of the cardiovascular status, with an adequate blood pressure (BP 60/25 mmHg) and normalization of acid-base-balance. After the insertion of an epicardial pacemaker (paced rate at 140 beats/min), a significantly lower blood pressure was achieved (BP 50/25 mmHg), indicating an additive effect of the rhythmic chest movements to the blood pressure. Unfortunately, third-degree burns were detected on the patients back 1 day after pacemaker insertion. CONCLUSION: Transthoracic pacing is a life-saving option in an emergency situation, when maximal pharmacological support fails to maintain adequate cardiac output. It may have some additional beneficial effect on blood pressure generation in these patients. To prevent skin injury, the output used needs to be as low as feasible, and the period of pacing as brief as practicable.