Background: Transition from paediatric to adult care in congenital heart disease (CHD) represents a pivotal and vulnerable phase that critically influences long-term survival, morbidity, and quality of life. Advances in paediatric cardiology and surgery have generated a rapidly growing population of adults with congenital heart disease who exhibit complex, lifelong, and multidisciplinary needs. However, survival does not equate to cure, and discontinuity of care during adolescence remains a major predictor of adverse outcomes. Despite widespread recognition of their importance, transition programmes are heterogeneous worldwide, and standardised, evidence-based protocols are missing. Objective: This review calls for action acknowledging the urgent need for structured and standardised transition programmes in CHD care, integrating the key elements that should be addressed in any programme to optimise outcomes. Content: Transition should be understood as a multidisciplinary, longitudinal process integrating medical management, patient and family education, psychological preparation, and societal inclusion. Core domains include tailored physical activity, nutritional counselling, cardiovascular risk factor management, infective endocarditis prevention, reproductive health, psychosocial support, and engagement of primary care providers, educators, and employers. Evidence demonstrates that structured transition programmes enhance health literacy, adherence, and self-management, while reducing loss to follow-up. The active involvement of primary care providers, psychologists, educators, and employers is essential to sustain holistic and equitable care. Conclusions: Transition should be reframed as an essential, lifelong component of CHD care. The development and implementation of standardised, multidisciplinary, evidence-based transition protocols are urgently required to ensure continuity, empower patients, and optimise long-term clinical and psychosocial outcomes for adults with CHD.

Double-chambered left ventricle (DCLV) is a rare congenital heart anomaly and can be easily misdiagnosed with transthoracic echocardiography. Cardiac magnetic resonance (CMR) can help in the diagnostic process and risk stratification. A 15-year-old girl diagnosed with left ventricular noncompaction and unsustained ventricular tachycardia was referred to our institution for further characterization. The CMR scan demonstrated instead a DCLV with normal ejection fraction and tissue characterization parameters within normal limits. The patient was started on bisoprolol, which was effective in reducing the arrhythmic burden, and she is currently under regular follow-up. DCLV has been described only in anecdotal case reports since the first classification was published in 1981. In our case, a prominent paraseptal trabecula was the anatomical fingerprint, but it could not be properly identified with transthoracic echocardiography. CMR instead was pivotal in the diagnosis, which allowed us to properly identify the morphology of the left ventricle and provided tissue characterization, therefore refining arrhythmic risk stratification. In addition, it excluded other differential diagnosis such as ventricular septal defects. This case highlights the importance of CMR in the diagnosis of rare congenital cardiac abnormalities, such as DCLV, especially when the echocardiographic window is suboptimal or unclear.

Background: The aim of this study was to describe our centre experience in the use of pulmonary vasodilator therapy in Fontan patients. Methods: We retrospectively enrolled patients that underwent Fontan operation between 2000 and 2024, reporting demographic and operative data and noting complications and the use of pulmonary vasodilators. Results: A total of 117 patients were followed for a median time of 150 months (90–207). In total, 36.7% were female, and the median age during the intervention was 50 months (37–64), and 53% had a single left ventricle physiology. In 20 of these 117 patients (17.1%), at least one pulmonary vasodilator drug was used during their life for the following reasons: 6 elevated pressures in the circuit, 3 low oxygen saturation, 2 plastic bronchitis, 2 pleural effusion, 1 chylothorax, 1 persistent pericardial effusion, 1 haemoptysis, 1 protein losing enteropathy, 1 poor exercise tolerance, 1 pulmonary arterial hypertension present since birth and 1 diastolic dysfunction. They had a significantly higher prevalence of single right ventricle physiology (65% vs. 37%, p = 0.03), pulmonary hypertension (60% vs. 0, p = 0.0001), plastic bronchitis (10% vs. 0, p = 0.03) and declivous oedema in the follow-up period (10% vs. 0, p = 0.03), with a higher assumption of warfarin (35% vs. 6.2%, p = 0.001). Conclusions: We found that in the absence of a standardise protocol, we usually use pulmonary vasodilator therapy in Fontan patients, as it is guided by clinical aspects and hemodynamic conditions, which lead us to start and stop this therapy.

Fontan associated liver disease (FALD) is a known complication in adult patients with total cavo-pulmonary connection. The relationship between the severity of FALD and cardiovascular disease progression is yet to be clarified. We investigated the role of liver stiffness measured by transient elastography (TE) in predicting adverse events (AEs) in adult patients with Fontan circulation. We retrospectively analysed TE data from our cohort of Fontan patients from September 2014 to December 2023. Baseline characteristics were recorded. The association of TE, liver function tests, and pro-collagen3 with AEs were analysed. 167/207 patients (median age 20.0 years; 60% male) for a total of 613 TE from September 2014 to December 2023 (median follow up 56.0 months; 1.893 patient-year) were included in the study. TE values remained stable over time and did not show any correlation with baseline characteristics. TE values < 23.9 kPa could discriminate patients with advanced FALD (Se 50%; Sp 79%; NPV 97%). Forty AEs occurred (0.06 events per patient-year). Albumin (HR 0.91, p = 0.010) and APRI (HR 1.92, p = 0.034) were independent predictors of morbidity at multivariate analysis. In this relatively young cohort, with low mortality and no HCC during follow-up, no significant association was found between TE and AEs. Nevertheless, TE appeared to be useful in discriminating advanced FALD. As no convincing risk factor related to FALD severity or progression has been yet identified, a multidisciplinary approach to risk assessment and surveillance is advised to reduce the impact of FALD and prevent progression to HCC.

Myocardial hypertrophy (MH) represents a complex and heterogeneous condition in the pediatric and young adult population. While rare in children, MH encompasses a wide spectrum of physiological and pathological entities, ranging from transient hypertrophy in the infants of diabetic mothers to progressive genetic hypertrophic cardiomyopathies (HCM) with significant morbidity and mortality. Differential diagnosis is critical, as many phenocopies—including metabolic, mitochondrial, and syndromic diseases—can mimic HCM. Echocardiography remains the first-line imaging modality, with cardiac magnetic resonance (CMR) and molecular diagnostics increasingly used for detailed characterization. Risk stratification tools, such as the HCM Risk-Kids model, support clinical decision-making but must be integrated with individualized assessment. Advances in prenatal screening and genetic testing have significantly improved outcomes, though long-term management requires multidisciplinary care. Understanding age-specific presentations and the underlying etiologies is essential for accurate diagnosis and targeted treatment. This review provides a comprehensive overview of cardiac hypertrophy from fetal life through young adulthood, with a focus on etiologies, diagnostic approaches, imaging modalities, and therapeutic strategies, and aims to guide clinicians through the evolving landscape of MH, emphasizing early recognition, comprehensive evaluation, and personalized care.

Background. Fontan associated liver disease (FALD) is a known complication in adult patients with total cavo-pulmonary connection. The relationship between the severity of FALD and cardiovascular disease progression is yet to be clarified. We investigated the role of liver stiffness measured by transient elastography (TE) in predicting adverse events (AEs) in adult patients with Fontan circulation.Material and methods. We retrospectively analysed TE data from our cohort of Fontan patients from September 2014 to December 2023. Baseline characteristics were recorded. The association of TE, liver function tests (LFT), and pro-collagen3 (P3NP) with AE were analysed.Results. 167/207 patients (median age at TE 20.0; IQR 18.0; 25.5 years, 60% male) for a total of 613 TE from September 2014 to December 2023 (median follow up 56.0; IQR 32.0; 74.5 months; 1.893 patient-year) were included in the study. TE values remained stable over time and did not show any correlation with baseline characteristics. TE values <23.9kPa could discriminate patients with advanced FALD (Se 50%; Sp 79%; NPV 97%). Forty AE occurred (0.06 events per patient-year). High albumin was the only significant factor associated with AEs at multivariate analysis (HR 0.18, p 0.009).Conclusions. TE did not predict mortality or morbidity in adult patients with Fontan circulation in this study, but it could discriminate advanced FALD. As no convincing risk factor related to FALD severity or progression has been yet identified, a multidisciplinary approach to risk assessment and surveillance is advised to reduce the impact of FALD and prevent progression to HCC.