Transcatheter pulmonary valve replacement serves as a successful alternative to surgical replacement of a right ventricle to pulmonary artery conduit. Guidelines for recommending transcatheter pulmonary valve replacement depend on MRI right ventricular volumes, which have been correlated to the echocardiographic measure of right ventricular annular tilt. We aim to assess whether right ventricular annular tilt can be a clinically useful alternative tool in the acute and long-term periods after transcatheter pulmonary valve replacement to assess right ventricular health.

We reviewed 70 patients who underwent transcatheter pulmonary valve replacement at a single institution. Echocardiographic measurements were obtained prior to transcatheter pulmonary valve replacement, immediately after transcatheter pulmonary valve replacement, and within 6 months to 1 year after transcatheter pulmonary valve replacement. Right ventricular annular tilt measures the angle of the tricuspid valve plane relative to the mitral valve plane at end-diastole in the apical four-chamber view. Right ventricular fractional area change, right ventricular systolic strain, tissue Doppler velocity, and tricuspid annular plane systolic excursion Z-scores were obtained using published methods.

Right ventricular annular tilt decreased significantly immediately after transcatheter pulmonary valve replacement (p = 0.0004), and this reduction in right ventricular volume persisted at the mid-term follow-up (p < 0.0001). Fractional area change did not change significantly after transcatheter pulmonary valve replacement while right ventricular global strain improved at mid-term follow-up despite no significant difference immediately after transcatheter pulmonary valve replacement.

Right ventricular annular tilt decreases both immediately after transcatheter pulmonary valve replacement and at mid-term follow-up. Right ventricular strain also improved after transcatheter pulmonary valve replacement, corresponding to the improved volume load. Right ventricular annular tilt can be considered as an additional echocardiographic factor to assess right ventricular volume and remodeling after transcatheter pulmonary valve replacement.

The goal of this single-centre study was to evaluate long-term results of percutaneous closure of secundum-type atrial septal defect using Amplatzer Septal Occluder with the follow-up to 25 years.

A retrospective analysis of patients who underwent percutaneous closure of secundum-type atrial septal defect between September 1995 and October 2012 in our institution was performed. All procedures were performed after fulfilling strict indication criteria. More than 5 years follow-up was reached in 651/803 patients (81%) with median follow-up time of 12 (5–25) years.

The mean stretched defect diameter was 14,0 ± 5,2 mm. Early reintervention due to moderate or severe residual atrial septal defect had to be performed in 3/803 patients (0,03%). The incidence of long-term moderate or severe residual atrial septal defect was 0,0%. The complete closure rate at 10-year follow-up was 98,5%, as trivial residual shunts persisted in 8/508 patients (1,5%). A significant rate of the echocardiographic right ventricular end-diastolic diameter post-procedural normalisation (p < 0,05) was encountered. The rate of major complications was 0,5%. One device embolisation, one thrombus formation at the occluder surface, and one cardiac erosion in periprocedural or short post-procedural course were experienced. Only one late complication of infective endocarditis at the region of implanted occluder and the aortic valve was detected. The survival rate of all followed patients was 100%.

Percutaneous closure of secundum-type atrial septal defect using Amplatzer Septal Occluder is a safe and effective procedure accounting for a very low incidence of major complications in the long-term follow-up.

Carvajal syndrome is a very rare autosomal recessive cardiocutaneous disorder caused by a desmosomal mutation in exon 24 of the desmoplakin gene. It manifests with woolly hair, epidermolytic palmoplantar keratoderma, and arrhythmogenic right ventricular cardiomyopathy. We herein present a patient with heart failure and dilated cardiomyopathy who was diagnosed with Carvajal syndrome because of dermatologic manifestations.

A seven-year-old girl was referred to our clinic due to decompensated heart failure and clinical deterioration. The patient had severe weakness, tachycardia, and tachypnea. She had a complaint of getting tired quickly for three weeks, and she had shortness of breath and abdominal pain for the last two days. She had hepatomegaly and woolly hair. Mild keratoderma was present on the soles of her feet. Echocardiography demonstrated biventricular dilatation, significantly impaired left ventricular systolic function (ejection fraction 22%), and moderate to severe mitral and tricuspid regurgitation. Molecular genetic evaluation was performed because of cutaneous and cardiac findings, which demonstrated a desmoplakin gene mutation. Homozygous mutation c.4297C > T (p.Gln1433*) was identified in desmoplakin gene, and the diagnosis of Carvajal syndrome was confirmed.

Syndromic types of arrhythmogenic right ventricular cardiomyopathy such as Carvajal syndrome are rare diseases. Awareness about cutaneous manifestations and genetic evaluation would help diagnosis and prevention of sudden death. Genetic counselling is needed in familial cases.

Pulmonary arterial hypertension, a common consequence of untreated CHD, is associated with a significant morbidity and mortality. Recent researches have demonstrated that patients with clinically severe cardiovascular illnesses, including pulmonary hypertension, have a greater mortality risk when their red cell distribution width is high. This work aimed to assess the predictive value of red cell distribution width in children with pulmonary arterial hypertension-CHD and to correlate red cell distribution width with various clinical and echocardiographic data.

Sixty patients with CHD associated with pulmonary arterial hypertension were enrolled as the patient group. Another 60 patients with CHD and no pulmonary arterial hypertension, matched for age and sex, were enrolled as the control group. Electrocardiography and echocardiographic evaluation were performed for all included children. Red cell distribution width as part of the complete blood count was also performed using a Coulter® LH 700 series haematology analyzer.

The red cell distribution width was significantly higher in the pulmonary arterial hypertension-CHD group than in the CHD-only group (P < 0.05). There was a significant positive correlation between the red cell distribution width and mean pulmonary artery pressure. Red cell distribution width was an independent predictor of mortality in children with pulmonary arterial hypertension-CHD. The best red cell distribution width cut-off for predicting mortality in children with pulmonary arterial hypertension-CHD was ≥ 17.6%.

Red cell distribution width was significantly higher in children with pulmonary arterial hypertension–CHD than in those without pulmonary arterial hypertension. Moreover, red cell distribution width could be a cheap easy predictive marker for mortality in children with pulmonary arterial hypertension-CHD.

CHDs correspond to 28% of all congenital anomalies, being the leading cause of infant mortality in the first year of life. Thus, it is essential to explore risk factors for CHDs presentation, allowing the detection of probable cases within a population.

We identified newborns with CHDs within a cohort from the Program for the Prevention and Monitoring of Congenital Defects in Bogota and Cali, 2002–2020. Cases were classified as isolated, complex isolated, polymalformed, and syndromic. Variables were analysed by comparing case and control averages with Student’s t test using a 95% confidence level.

Prevalence obtained was 19.36 per 10 000 live births; non-specified CHD, ventricular septal defect, and atrial septal defect were the most prevalent. As risk factors were found: paternal and maternal age above 45 years, pregestational diabetes, mother’s body mass index above 25, low educational level, and socio-economic status. As protective factors: folic acid consumption within the first trimester and pregestational period.

Different risk and protective factors associated with the presentation of CHDs have been described. We consider that public health strategies should be aimed to reduce risk factors exposure. Also, improving diagnosis and prognosis by having a close monitoring on high-risk patients.

In infants and young children, good image quality in MRI and CT requires sedation or general anesthesia to prevent motion artefacts. This study aims to determine the safety of ambulatory sedation for children with CHD in an outpatient setting as a feasible alternative to in-hospital management.

We recorded 91 consecutive MRI and CT examinations of patients with CHD younger than 6 years with ambulatory sedation. CHD diagnoses, vital signs, applied sedatives, and adverse events during or after ambulatory sedation were investigated.

We analysed 91 patients under 72 months (6 years) of age (median 26.0, range 1–70 months; 36% female). Sixty-eight per cent were classified as ASA IV, 25% as ASA III, and 7% as ASA II (American Society of Anesthesiologists Physical Status Classification). Ambulatory sedation was performed by using midazolam, propofol, and/or S-ketamine. The median sedation time for MRI was 90 minutes (range 35–235 minutes) and 65 minutes for CT (range 40–280 minutes). Two male patients (age 1.5 months, ASA II, and age 17 months, ASA IV) were admitted for in-hospital observation due to unexpected severe airway obstruction. The patients were discharged without sequelae after 1 and 3 days, respectively. All other patients were sent home on the day of examination.

In infants and young children with CHD, MRI or CT imaging can be performed under sedation in an outpatient setting by a well-experienced team. In-hospital backup should be available for unexpected events.

The purpose of this study is to assess the mid-term outcomes of aortic root replacement after repair of CHDs.

This is a single-institutional retrospective, cohort study with consecutive patients undergoing aortic root replacement after surgical repair of CHDs between 1999 and 2022. Operative indications included aortic root dilatation with/without aortic insufficiency, sinus of Valsalva rupture, or aortic dissection involving the root.

Forty-four patients (36 male and 8 female) were enrolled. Mean age at the root replacement was 36.6 ± 11.9 years. The most frequent primary diagnosis was congenital aortic stenosis (n = 10) and ventricular septal defect (n = 10). Mean time from the surgical repair to aortic root replacement was 26.6 ± 13.0 years. Operative indications were aortic root enlargement with or without aortic valve aetiology (n = 40), sinus of Valsalva rupture (n = 2), and aortic dissection (n = 2). Forty-two patients underwent valve-replacing aortic root replacement, and two patients underwent valve-sparing, with 40 concomitant procedures. The median follow-up was 3.5 (1.3–7.6) years. There were one early and five late mortalities and five cardiovascular-related reoperations. Actuarial survival at 5–10 years after root replacement was 81.0 ± 6.6%. The cumulative incidence of cardiovascular-related reoperation and aortic root or valve-related reoperation at 5 years after root replacement was 11.9% and 5.6%, respectively.

The early and mid-term outcomes of aortic root replacement for patients with a history of repair of CHDs were favourable in terms of survival and aortic root or valve-related reoperation.

Congenital junctional ectopic tachycardia is a rare arrhythmia that occurs in patients without previous cardiac surgery. In this report, we wanted to present a 6-hour-old newborn with congenital junctional ectopic tachycardia resistant to conventional anti-arrhythmic medications, who was successfully treated with ivabradine and amiadarone combination.

A six-hour-old newborn girl was hospitalised in neonatal ICU because transient tachypnoea of the newborn. She was tachycardic, and supraventricular tachycardia was noticed. There was no answer to the adenosine esmolol treatment; even synchronised direct cardioversion intravenous amiodarone was started. Junctional ectopic tachycardia was diagnosed. We have added propranolol to the treatment and followed patient for 2 days. On the fourth day, junctional ectopic tachycardia rhythm still persisted; therefore, ivabradine treatment was added to the treatment. On the following day, the heart rhythm was slowed to 110/min, and propranolol was stopped; intravenous amiodarone treatment was changed to the oral form. The rhythm turned into sinus; two days after starting ivabradine and oral amiodarone.

Tachyarrhythmia originating in the atrioventricular node and atrioventricular junction including the bundle of His complex are junctional ectopic tachycardia. Congenital junctional ectopic tachycardia is rare, and it is mostly resistant to the conventional treatment.

Ivabradine is a new anti-arrhythmic agent, used extensively to decrease sinus rate in the treatment of cardiac failure. Ivabradine may be an option for the resistant congenital ectopic tachycardia

In 2020, reports revealed cases called multisystem inflammatory syndrome in children and adolescents temporally related to COVID-19 or multisystem inflammatory syndrome in children. A small proportion of patients suffer from persistent left ventricular dysfunction at discharge. The primary aim was to investigate if myocardial impairment persists during follow-up in these patients.

Children fulfilling the criteria for multisystem inflammatory syndrome in children with cardiac involvement hospitalized between December 2020 and February 2022 were included in this retrospective single centre study. Cardiac MRI was performed six months after the onset of symptoms to evaluate possible persistent myocardial damage.

Fifteen patients (80% male) with a median age of 8 years (interquartile range 4.5 - 13.5 years) were included. Upon admission, eight patients (53%) presented with reduced left ventricular function, with a median left ventricular ejection fraction of 54% (interquartile range 49.5%-61.5%) on transthoracic echocardiography. Elevated levels of cardiac-specific markers were found in 14 patients (93%). Cardiac MRI was performed in 12 patients at a median of 190.5 days after the onset of symptoms. Nine patients (75%) had normal left ventricular function, with a median left ventricular ejection fraction of 59.45%, while the remaining patients showed mildly to moderately reduced values. None of the patients showed signs of late gadolinium enhancement, indicating the absence of persistent myocardial scarring.

During a follow-up of 6.2 months, mild to moderate cardiac impairment was revealed in 25% of patients evaluated by cardiac MRI. Although a majority of patients do not show signs of cardiac impairment, close follow-ups should be performed in a proportion of patients.

This study aimed to describe the perception of Malaysian patients with pulmonary hypertension towards palliative care and their receptivity towards palliative care.

This was a cross-sectional, single-centre study conducted via questionnaire. Patients aged 18 years old and above, who were diagnosed with non-curable pulmonary hypertension were recruited and given the assessment tool – perceptions of palliative care instrument electronically. The severity of pulmonary hypertension was measured using WHO class, N-terminal pro B-type natriuretic peptide and the 6-minute walking test distance.

A total of 84 patients [mean age: 35 ±11 years, female: 83.3%, median N-terminal pro B-type natriuretic peptide: 491 pg/ml (interquartile range: 155,1317.8), median 6-minute walking test distance: 420m (interquartile range: 368.5, 480m)] completed the questionnaires. Patients with a higher WHO functional class and negative feelings (r = 0.333, p = 0.004), and cognitive reaction to palliative care: hopeless (r = 0.340, p = 0.003), supported (r = 0.258, p = 0.028), disrupted (r = 0.262, p = 0.025), and perception of burden (r = 0.239, p = 0.041) are more receptive to palliative care. WHO class, N-terminal pro B-type natriuretic peptide, and 6-minute walking test distance were not associated with higher readiness for palliative care. In logistic regression analyses, patients with positive feelings (β = 2.240, p = < 0.05), and practical needs (β = 1.346, p = < 0.05), were more receptive to palliative care.

Disease severity did not directly influence patients’ readiness for palliative care. Patients with a positive outlook were more receptive to palliative care.

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.