Adult Congenital Heart Disease in Australia and New Zealand: A Call for Optimal Care.

BACKGROUND: Adult congenital heart disease (ACHD) is a relatively new subspecialty in the cardiology field. The prevalence of ACHD is estimated at ∼ 3,000 per million adult population. The ACHD patient group is estimated to grow at ∼ 5% per year and in the next decade it is forecast that 1 in 150 young adults will carry some form of ACHD diagnosis. These estimates translate to ∼ 72,000 ACHD patients in Australia and ∼ 14,000 in New Zealand, although no current numbers are available. The Cardiac Society of Australia and New Zealand (CSANZ) has recently published Recommendations for Standards of Care for Adult Congenital Heart Disease (ACHD) in 2016. There is currently no long-term plan or proposal to address this huge health care burden within the federal government. This document details the size of the problem insofar as it is known and recommends solutions to be implemented. METHODS: This document was developed by the Adult Congenital Heart Disease Working Group of the Paediatric and Congenital Council (the Congenital Heart Alliance of Australia and New Zealand) as a response to the chronic under resourcing in this area, the risk this poses to patients and clinicians, and the clear need for long-term planning to develop safe care pathways. RESULTS: These issues were raised with the CSANZ Board in December 2015 and the document was developed in response to the Board's request for more information. The current iteration was finalised on 14 November 2017. CONCLUSIONS: The authorship group comprised participants in the CSANZ adult CHD standards of care recommendations from 2013 with the inclusion of some newly trained ACHD cardiologists, who represented most states and territories across ANZ. None of the authors has any academic or professional conflict of interest.

Management errors in adults with congenital heart disease: prevalence, sources, and consequences.

Aims: Improved survival has resulted in increasing numbers and complexity of adults with congenital heart disease (ACHD). International guidelines recommend specialized care but many patients are still not managed at dedicated ACHD centres. This study analysed referral sources and appropriateness of management for patients referred to our tertiary ACHD Centre over the past 3 years. Methods and results: We compared differences in care between patients referred from paediatric/ACHD-trained vs. general adult cardiologists, according to Adherence (A) or Non-Adherence (NA) with published guidelines. Non-Adherent cases were graded according to the severity of adverse outcome or risk of adverse outcome. Of 309 consecutively referred patients (28 ± 14 years, 51% male), 134 (43%) were from general cardiologists (19% highly complex CHD) and 115 (37%) were from paediatric cardiology or ACHD specialists (33% highly complex CHD). Sixty referrals (20%) were from other medical teams and of those, 31 had been lost to follow-up. Guideline deviations were more common in referrals from general compared to CHD-trained cardiologists (P < 0.001). Of general cardiology referrals, 49 (37%) were NA; 18 had catastrophic or major complications (n = 2, 16 respectively). In contrast, only 12 (10%) of the paediatric/ACHD referrals were NA, but none of these were catastrophic and only 3 were major. Simple, moderate, and highly complex CHD patients were at increased risk of adverse outcome when not under specialized CHD cardiology care (P = 0.04, 0.009, and 0.002, respectively). Conclusion: Non-adherence with guidelines was common in the ACHD population, and this frequently resulted in important adverse clinical consequences. These problems were more likely in patients who had not been receiving specialized CHD care. Configuring healthcare systems to optimize 'whole of life' care for this growing population is essential.

Adults with repaired tetralogy: low mortality but high morbidity up to middle age.

OBJECTIVE: Survival of patients with repaired tetralogy of Fallot (rToF) into young adulthood is very good. Concerns exist, however, over long-term morbidity and mortality as these subjects reach middle age. We aimed to assess survival and the prevalence of complications in patients with rToF seen in our Adult Congenital Heart Disease (ACHD) service. METHODS: One hundred and sixty-eight consecutive patients with 'simple rToF', aged over 16 years, followed up at our tertiary-level ACHD service in Sydney, Australia since 2000, were included. We documented mortality and analysed the prospectively defined composite end points of (a) 'Serious adverse events', including death, heart failure hospitalisation and/or documented ventricular arrhythmia and (b) 'Adverse events' inclusive of the above and endocarditis, atrial arrhythmia, defibrillator and/or pacemaker implantation. RESULTS: Mean age at the last follow-up was 34±12 years, and 55% were men. There were 10 (6%) deaths, and 26 patients (16%) experienced a 'serious adverse event'. Fifty-one patients (30%) experienced an 'adverse event' and 29 patients had atrial arrhythmias. One hundred and one (61%) patients had at least one pulmonary valve replacement. By age 40 years, 93% were free of serious adverse events, and 83% were free of any adverse event. By age 50 years, only 56% had not had an adverse event. Older age and history of atrial arrhythmia were predictive of serious adverse events. CONCLUSION: Survival into mid-adulthood in patients with rToF is very good; however, a substantial number of survivors have adverse events by the age of 50 years.

Abnormal right ventricular tissue velocities after repair of congenital heart disease--implications for late outcomes.

BACKGROUND: Although repair of Tetralogy of Fallot (TOF) and transposition of the great arteries (TGA) has facilitated survival into adulthood, many survivors have residual haemodynamic abnormalities, including exercise intolerance and late right ventricular (RV) failure. METHODS: We studied 40 asymptomatic adult subjects (31.3+/-1.5 years) after congenital heart disease (CHD) surgery during childhood, using tissue Doppler echocardiography (TDE). We compared systolic (S') and diastolic (E' for early filling) RV and LV velocities, with 40 age matched controls (29.5+/-1.0 years). RESULTS: Both RV S' and E' velocities were significantly slower in the CHD group compared to controls (6.3+/-0.4 cm/s vs. 9.3+/-0.3 cm/s; 8.5+/-0.5 cm/s vs. 10.9+/-0.4 cm/s, respectively, p<0.001 for both). By contrast, LV S' and E' velocities were similar in both groups. Interestingly, in 50% of CHD subjects where RV function was reported as 'normal', both RV S' and E' velocities were significantly slower compared with controls (6.5+/-0.6 cm/s vs. 9.3+/-0.3 cm/s, p<0.0001 and 9.4+/-0.7 cm/s vs. 10.9+/-0.4 cm/s, p<0.05 respectively). CONCLUSIONS: RV S' and E' velocities are frequently abnormal in asymptomatic survivors of TOF and TGA repair, even where RV function appears 'normal'. Hence TDE during follow up may be a sensitive means of detecting pre-clinical abnormalities in RV performance.

The genetics and molecular basis of alpha thalassaemia in association with Hb S in Jamaican Negroes

We have studied seven Jamaican Negro families in whom the genes for O thalassaemia and the sickle cell mutation (ás) were independently segretated. Using a combination of techniques we identified two O thalassaemia phenotypes which resemble the reserve (O thalassaemia 1) and mild (O thalassaemia 2) determinants previously described in Orientals. This study has enabled us to clearly correlate the phenotype of O thalassaemia with the genotype in this population. Furthermore, since in each family O thalassaemia was present in association with the gene for the sickle cell mutation we have determined the proportion of Hb S in the peripheral blood of individuals with the OO/OO, -O/-O genotype who are also heterozygous for the ás mutation. Genetic analysis in these families shows that in each case subjects with the O thalassaemia 1 phenotype are homozygous for the O thalassaemia 2 defect (-O/-O). We have found no instances of the genotype --/OO in this population which may explain the rarity of the severe O thalassaemia 2 homozygotes from this population shows that the (-O/) haplotype results from a deletion of one of the linked pair of O globin and that this had probably arisen by an unequal crossover between non-homologous O genes (AU)

Detection of alpha thalassaemia in Negro infants

A prospective study of 2191 Negro infants in Jamaica showed that approximately 7 percent of them had detectable levels of Hb Bart's (Y4) in the neonatal period. The red cell indices, globin chain biosynthesis and restriction endonuclease mapping of DNA from these infants were used to determine the significance of Hb Bart's at birth. The results indicate that the genotypes OO/OO, - O/OO and - O/-O are associated with 0 percent, 0.1-2 percent, and greater than 2 percent Hb Bart's respectively. Although trace amounts of Hb Bart's may be associated with the genotype - O/OO this is not always the case and therefore haemoglobin analysis in the neonatal period cannot be used to diagnose this genotype with any certainty (AU)