Danon disease is an X-linked disorder caused by variants in the lysosome-associated membrane protein-2 (LAMP2) gene located on Xq24. Due to its inheritance in an X-chromosome dominant manner, males typically experience more severe manifestations than females.

The whole exome sequencing was conducted on a cohort of 218 children diagnosed with hypertrophic cardiomyopathy; four children with hypertrophic cardiomyopathy carrying the LAMP2 variants were diagnosed at our centre. Variants in the LAMP2 gene were summarised, and their pathogenicity and conservation were analysed using bioinformatics methods. A retrospective analysis of genotype-phenotype associations was also conducted in conjunction with previously reported cases.

Four patients with Danon disease were diagnosed in our single centre by gene sequencing; they all presented with myocardial hypertrophy as the initial manifestation. Both male patients manifested symptoms from infancy, while disease onset in the two female cases occurred below the average age reported for females. Through gene sequencing, a total of four variants were identified in these four patients, including one splicing variant: c.865-1G>C, one loss of heterozygosity variant: loss1 exon:4-9), one frameshift variant: c.973delG(p.(L325Wfs×21)), and one stop codon variant: c.467T>G(p.(L156*)).

This study identified four patients with LAMP2 gene variants, thereby enriching the documented genetic landscape of LAMP2-associated disorders. Bioinformatics analyses corroborated the pathogenicity of these variants. Additionally, we emphasised that women with suspected Danon disease should be thoroughly evaluated, and the possibility of implantable cardioverter defibrillator implantation and heart transplantation should be considered and discussed as early as possible.

Although the importance of advance care planning (ACP) for individuals with adult congenital heart disease (ACHD) has been established, there is no consensus regarding the optimal age to initiate ACP discussions. We asked ACHD patients their opinions about the timing of the first ACP discussion.

Adult patients seen in an outpatient ACHD clinic from April to August 2018 completed a self-administered questionnaire that evaluated opinions regarding the content and timing of ACP discussions, end-of-life communication preferences, and anticipated emotional responses to ACP discussions.

Ninety-five patients participated. Median age was 34.8 years (Q1 – Q3: 28.4 - 47.1 years), 53% (n = 50) were female, and 91% (n = 86) had great or moderate disease complexity. Although 75% (n/N = 69/92) thought ACP was important, only 37% (n/N = 35/94) had completed advance directives. Most (79%, n/N = 72/91) preferred ACP conversations early, either before getting sick (44%, n = 40/91) or when first diagnosed with a life-threatening illness (35%, n = 32/91). Responses varied regarding the appropriate age for first ACP conversations: 28% (n/N = 25/88) chose options ≤ 15 years, 23% (n/N = 20/88) 16–17 years, 32% (n/N = 28/88) 18–20 years, and 17% (n/N = 15/88) ≥ 21 years old.

ACHD patients value ACP discussions and think they should occur early in the disease course, before patients face a life-threatening disease complication, yet most think these conversations should wait until later adolescent or young adult years. ACP readiness should be assessed to determine the optimal timing of ACP discussions.

The Ross procedure offers several advantages for adolescents requiring aortic valve replacement, but progressive pulmonary autograft dilation is a well-described risk. To provide novel insight into the pre-Ross histology in an adolescent with bicuspid aortic valve (BAV)-associated aortopathy, we describe the extracellular architecture of the pulmonary artery (PA) compared to the native ascending aorta.

A 15-year-old with BAV, symptomatic moderate aortic insufficiency and aortic stenosis, and ascending aortic dilation underwent Ross. Intraoperative specimens included the main PA and ascending aorta. Tissue specimens were fixed, stained using 1) haematoxylin and eosin, 2) Verhoeff’s van Gieson, and 3) trichrome, and compared using light microscopy.

Elastin van Gieson stain revealed that the aortic media in the dilated ascending aorta contained a greater concentration of dense elastin weaves and a regular distribution of collagen compared to the PA. In contrast to the dense and organised compaction of elastic fibres in the media of the aortic specimen, the PA, though grossly normal, demonstrated extensive disruption and fragmentation. Trichrome staining revealed minimal fibrosis in both specimens.

Notable pre-Ross histological differences include marked disruption of elastin in the PA compared to the aorta. Age-based differences in Ross outcomes suggest that adolescents may experience proportionally more significant autograft dilation over time, so future studies should include prospective collection and histological analysis of specimens across the age spectrum, both pre- and post-Ross, to allow comparison to age-matched controls.

Amiodarone is a frequently used medication in paediatric patients to manage atrial and ventricular arrhythmias, but its acute haemodynamic effects, particularly in children, remain underexplored. This retrospective, single-centre study aimed to characterise the clinical impact of amiodarone intravenous infusions on heart rate, blood pressure, oxygen delivery, and transaminase levels within the first 48 hours of amiodarone initiation in paediatric cardiac ICU patients.

Single-centre, retrospective study of patients receiving amiodarone infusions, with measurements taken at baseline and at various intervals up to 48 hours after initiation. The primary outcome was the effect on heart rate, while secondary outcomes included blood pressure, arterial saturation, near-infrared spectroscopy values, central venous pressure, and transaminase levels. Several types of analysis models were employed to assess the results.

Data were collected from 87 paediatric patients. No significant changes in liver enzymes, blood pressure, or renal oxygen extraction were observed. These findings provide novel insights into the acute haemodynamic effects of amiodarone infusions in paediatric patients, suggesting that while amiodarone significantly lowers heart rate, it does not substantially affect oxygen delivery or necessitate increased vasoactive support.

Amiodarone infusions are associated with a significant decrease in heart rate without greatly impacting oxygen delivery or requiring increased vasoactive support. Heart rate decreases most until a cumulative dose of 30,000 mcg/kg, and heart rate decrease is most pronounced in those with ventricular tachycardia.

Physiologic changes in the peripartum period put women with CHD at increased risk for morbidity. This study examines factors associated with peripartum complications and length of stay compared to patients without CHD.

This single-institution retrospective case-control study included women with CHD (2000–2017) and a control population without CHD. A review of clinical and echocardiographic data was used to assign baseline characteristics, disease severity, and adverse outcomes. Primary outcomes were composite variables of cardiac and obstetric adverse events, along with peripartum length of stay. The relationship between maternal CHD, baseline characteristics, and peripartum adverse events was evaluated by multivariable regression.

The cohort and control groups included 162 deliveries among 113 women and 321 deliveries among 321 women, respectively. Cardiac complications, including arrhythmia, heart failure, pulmonary oedema, and thromboembolic events, occurred in 8.6% of the cohort (RR 2.52, 95% CI 1.17–5.42), with the most common event being arrhythmia. Obstetric events, such as caesarean delivery, assisted vaginal delivery, preterm birth, and pre-eclampsia, occurred in 67.9% versus 56.1% in the control group (RR 1.21, 95% CI 1.05–1.40). In multivariable models, increasing age was associated with increased composite cardiac events. Length of stay was longer in the cohort group (p < 0.001) and significantly associated with modified World Health Organization classification (p = 0.016).

Women with CHD experience increased cardiac and obstetric morbidity compared to controls during peripartum admission. Those with CHD have longer hospital stays around delivery, which is associated with disease severity.

Children with heart conditions, particularly CHDs, may experience adverse neurodevelopmental and psychosocial outcomes. Our study aimed to: (1) compare national prevalence of mental, behavioural, and developmental disorders among children by heart condition status and (2) identify associated characteristics among children with heart conditions.

Nationally representative data from the National Survey of Children’s Health (2016–2021) on U.S. children aged 6–17 years without Down syndrome were analysed. Caregivers reported whether a healthcare provider told them their child has ever had a heart condition or currently has depression, anxiety, ADHD, behavioural, or conduct problems, Tourette syndrome, autism spectrum disorder, developmental delay, intellectual disability, learning disability, or a speech or other language disorder. Logistic regression analysis compared disorder prevalence by heart condition status and, among children with heart conditions, assessed whether disorders were associated with demographic and contextual characteristics.

Among 3,440 children with heart conditions, 42% had an examined disorder, compared to 23% of 133,280 children without heart conditions (adjusted prevalence ratio = 1.8; 95% confidence interval: 1.7, 2.0). Each disorder was more prevalent among children with versus without heart conditions (adjusted prevalence ratio range: 1.9 to 5.1), with anxiety (22.1%), ADHD (20.4%), and learning disabilities (19.6%) most common. Among children with heart conditions, disorders were consistently associated with an increased number of adverse childhood experiences.

These findings support clinical guidelines recommending neurodevelopmental and mental health screening and interventions for children with heart conditions and can be used as a national baseline to gauge progress of guideline implementation.

Outcomes of single ventricle heart defects may be influenced by the morphological type of the hypoplastic ventricle. Recent multi-centre studies have targeted on outcomes of hypoplastic left heart syndrome with limited focus on outcomes of hypoplastic right heart syndrome. We aimed at studying the clinical outcomes of hypoplastic right heart syndrome in the recent era.

We performed a retrospective analysis of all hypoplastic right heart syndrome patients (n = 153) born between January 2010 and January 2023. Five-year transplant-free survival was compared with hypoplastic left heart syndrome patients without heterotaxy (n = 144) born during the same time.

Double-inlet left ventricle was the most common anatomic hypoplastic right heart syndrome subtype (n = 39, 25%). Twenty-six (17%) patients with hypoplastic right heart had associated heterotaxy. Five-year transplant-free survival was high for most groups (double inlet left ventricle: 100%, pulmonary atresia: 94%, Ebstein’s anomaly: 92%, tricuspid atresia: 90% respectively). The heterotaxy group had worse early outcomes with 3 deaths and 3 heart transplants, before Fontan completion. Heterotaxy was a significant risk factor for death/transplant prior to Fontan completion in hypoplastic right heart syndrome patients (p = 0.03). Patients with hypoplastic right heart syndrome with heterotaxy had significantly worse 5-year transplant-free survival (71%) when compared to hypoplastic right heart syndrome without heterotaxy (95%) and hypoplastic left heart syndrome without heterotaxy (75%), p < 0.001.

Hypoplastic right heart syndrome patients have excellent clinical outcomes and better early childhood survival than hypoplastic left heart syndrome in the current era, except when associated with heterotaxy. The survival advantage conferred by a single left ventricle appears to be negated by heterotaxy syndrome and should be strongly considered during caregiver counselling and medical decision-making.

Educational experience of children with CHD is often adversely impacted by factors such as medical burden, social and school functioning challenges. It is, therefore, vitally important that adequate support is provided at an early stage in order to facilitate better educational outcomes for this cohort. The role of the teacher is pivotal in supporting the overall healthy development of a child with CHD. Thus, it is important to understand how we can also support teachers to provide optimal support to this cohort. This systematic scoping review aimed to offer a comprehensive understanding of existing research in this area and identify any knowledge gaps.

The methodological framework for scoping reviews developed by Arksey and O’Malley (2005) was employed.

Children with CHD face educational challenges in cognitive, psychomotor, behavioural, and affective domains and also with school attendance. The main challenges for teachers include a lack of information around CHD and how it affects the individual child. Building a strong relationship and having frequent communication between the teacher/ parent/ child were considered key in alleviating anxiety and promoting a supportive environment.

Children with CHD often require additional support from educational professionals in the classroom. Teachers of children with CHD would benefit from condition-specific training, updated on a regular basis.

Inherited cardiac arrhythmias are life-threatening conditions associated with a high risk of sudden cardiac death. These diseases impose a substantial psychological burden. Parents experience heightened anxiety due to uncertainty, medical interventions, and risk of adverse events. However, limited research has examined anxiety levels in affected individuals and their families.

This study aimed to assess anxiety levels in children and adolescents diagnosed with inherited cardiac arrhythmias, specifically Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia, and to identify factors influencing anxiety in both patients and parents.

A prospective, survey-based cohort study was conducted between June 2023 and June 2024, including 53 patients (0–18 years) diagnosed with inherited arrhythmias. Anxiety was assessed using the State-Trait Anxiety Inventory. Demographic and clinical variables, including disease type, invasive procedures, family history of sudden cardiac death, and parental education, were analysed.

Mothers exhibited the highest anxiety (STAI-T: 46.6 ± 10.6) while fathers had the lowest (37.3 ± 7.0). Catecholaminergic polymorphic ventricular tachycardia patients reported significantly higher anxiety (49.2 ± 7.7) than long QT syndrome patients (38.0 ± 7.0, p < 0.01). Children undergoing invasive procedures, particularly sympathetic denervation, had elevated anxiety (45.1 ± 8.2 vs. 36.5 ± 6.4, p < 0.05). Mothers of male children and those with a family history of sudden cardiac death had significantly higher anxiety (p < 0.01).

Inherited arrhythmias significantly impact psychological well-being, with mothers experiencing the highest anxiety levels. Disease severity, invasive procedures, and family history of sudden cardiac death contribute to increased anxiety, emphasising the need for psychological support in managing these conditions.

Tacrolimus is the standard immunosuppressant used in paediatric orthotopic heart transplantation, but it can be associated with rare and life-threatening haemolysis.

Retrospective chart review was used for this case report.

We present the case of a 6-year-old heart transplant recipient who developed life-threatening haemolysis in the setting of mycoplasma infection while on tacrolimus immunosuppression that was treated successfully with eculizumab.