The NKX2.5 gene is an important cardiac developmental transcription factor, and variants in this gene are most commonly associated with CHD. However, there is an increased need to recognise associations with conduction disease and potentially dangerous ventricular arrhythmias. There is an increased risk of arrhythmia and sudden cardiac death in patients with NKX2.5 variants, an association with relatively less attention in the literature.

We created a family pedigree and reconstructed familial relationships involving numerous relatives with CHD, conduction disease, and ventricular non-compaction following the sudden death of one family member. Two informative but distantly related family members had genetic testing to determine the cause of arrhythmias via arrhythmia/cardiomyopathy gene testing, and we identified obligate genetic-positive relatives based on family relationships and Mendelian inheritance pattern.

We identified a novel pathogenic variant in the NKX2.5 gene (c.437C > A; p. Ser146*), and segregation analysis allowed us to link family cardiac phenotypes including CHD, conduction disease, left ventricular non-compaction, and ventricular arrhythmias/sudden cardiac death.

We report a novel NKX2.5 gene variant linking a spectrum of familial heart disease, and we also encourage recognition of the association between NKX2.5 gene and potentially dangerous ventricular arrhythmias, which will inform clinical risk stratification, screening, and management.

The Advancing Mental Health Equality Collaborative is an innovative 3-year quality improvement programme led by the Royal College of Psychiatrists’ National Collaborating Centre for Mental Health (NCCMH). The collaborative was launched in July 2021 and involves 18 organisations across the UK who, with quality improvement support from the NCCMH, are working to understand the needs of their population and identify communities at risk of experiencing inequality to improve access, experience and outcomes of mental health care, support, and treatment for those populations.

An overarching driver diagram for the Collaborative was developed in collaboration with a wide range of stakeholders through steering group meetings, design workshops and remote consultation. This overarching driver diagram informs the development of population-specific driver diagrams, based on the population segments organisations selected to focus on. Each organisation was allocated an experienced quality improvement coach who supports them to apply a quality improvement approach to plan and deliver their projects, including support to generate insights based on data, staff and community engagement, carry out assets mapping, develop the project's aim and key drivers organisations need to work towards, identify measures, generate change ideas to be tested, and sustain successful changes.

Members of organisations taking part also attend quarterly learning sets where they come together to network, share challenges and ideas, and learn from each other.

Populations identified by organisations include children and young people; Black, Asian and Ethnic minority men aged 18+ years; carer population; neurodivergent individuals with comorbid mental health diagnoses; Muslim women/Black women; refugees and forced migrants; women military veterans in Greater Manchester and Lancashire; Bangladeshi and Pakistani men and women in Oldham; Traveller community in Somerset. A number of initiatives are being tested by teams to improve access, experience and outcomes of mental health care, support, and treatment for these populations, such as offering mental health awareness sessions for refugees in a range of languages.

Addressing inequality in mental health care is a long and complex process. The AMHE collaborative is supporting teams to take an innovative approach to tackle this issue, by ensuring their projects are fully co-produced with those affected by inequality. This includes engaging representatives from the communities they are trying to improve access, experience and outcomes for in all aspects of their quality improvement projects; from design to generating ideas to test, and ensuring they measure what is important to these communities to determine whether improvements have been made.

The SCN5A gene is implicated in many arrhythmogenic and cardiomyopathic processes. We identified a novel SCN5A variant in a family with significant segregation in individuals affected with progressive sinus and atrioventricular nodal disease, atrial arrhythmia, dilated cardiomyopathy, and early sudden cardiac arrest.

A patient pedigree was created following the clinical evaluation of three affected individuals, two monozygotic twins and a paternal half-brother, which lead to the evaluation of a paternal half-sister (four siblings with the same father and three mothers) all of whom experienced varying degrees of atrial arrhythmias, conduction disease, and dilated cardiomyopathy in addition to a paternal history of unexplained death in his 50s with similar autopsy findings. The index male underwent sequencing of 58 genes associated with cardiomyopathies. Sanger sequencing was used to provide data for bases with insufficient coverage and for bases in some known regions of genomic segmental duplications. All clinically significant and novel variants were confirmed by independent Sanger sequencing.

All relatives tested were shown to have the same SCN5A variant of unknown significance (p. Asp197His) and the monozygotic twins shared a co-occurring NEXN (p. Glu575*). Segregation analysis demonstrates likely pathogenic trait for the SCN5A variant with an additional possible role for the NEXN variant in combination.

There is compelling clinical evidence suggesting that the SCN5A variant p. Asp197His may be re-classified as likely pathogenic based on the segregation analysis of our family of interest. Molecular mechanism studies are pending.

Infants with critical congenital heart disease who require cardiothoracic surgical intervention may have significant post-operative mortality and morbidity. Infants who are small for gestational age <10th percentile with foetal growth restriction may have end-organ dysfunction that may predispose them to increased morbidity or mortality.

A single-institution retrospective review was performed in 230 infants with congenital heart disease who had cardiothoracic surgical intervention <60 days of age. Pre-, peri-, and post-operative morbidity and mortality markers were collected along with demographics and anthropometric measurements.

There were 230 infants, 57 (23.3%) small for gestational age and 173 (70.6%) appropriate for gestational age. No significant difference was noted in pre-operative markers – gestational age, age at surgery, corrected gestational age, Society for Thoracic Surgeons and European Association for Cardiothoracic Surgery mortality score; or post-operative factors – length of stay, ventilation days, arrhythmias, need for extracorporeal membrane oxygenation, vocal cord dysfunction, hearing loss; or end-organ dysfunction – gastro-intestinal, renal, central nervous system, or genetic. Small for gestational age infants were more likely to have failed vision tests (p = 0.006). Small for gestational age infants were more likely to have increased 30-day (p = 0.005) and discharge mortality (p = 0.035). Small for gestational age infants with normal birth weight (>2500 g) were also at increased risk of 30-day mortality compared with appropriate for gestational age infants (p = 0.045).

Small for gestational age infants with congenital heart disease who undergo cardiothoracic surgery <60 days of age have increased risk of mortality and failed vision screening. Assessment of foetal growth restriction as part of routine pre-operative screening may be beneficial.