Cardiology in the Young最新文献

Mutations in genes encoding sarcomeric proteins account for 50-60% of familial hypertrophic cardiomyopathy cases. However, the molecular pathogenesis in approximately one-third of patients remains unidentified. We describe the case of a 15-year-old female who presented with intermittent palpitations and had a significant paternal cardiovascular history. She was diagnosed with hypertrophic cardiomyopathy, confirmed by echocardiogram and cardiac MRI. Genetic testing revealed a variant of unknown significance in exon 7 of the FHL1 gene and exon 43 of the ANK2 gene.

Background: The timing for intervention in patients with significant chronic aortic regurgitation is based on adult guidelines and criteria which may not apply to children. There is limited data on the use of cardiac MRI parameters to guide surgical decision-making in paediatrics. We examined associations between MRI quantification of aortic regurgitation and left ventricular volumetric function and the need for surgical intervention.

Methods: Forty children and young adults with aortic regurgitation who had undergone cardiac MRI were divided into two groups based on aortic valve surgery (n = 20) or no surgery (n = 20). Ventricular volumetric functional parameters and aortic regurgitant volume and fraction were collected. Differences in MRI parameters between the groups were compared using unpaired t-tests. Receiver operating characteristic analysis identified MRI cut-off values with discriminatory ability towards primary end point of surgery (area under the curve > 0.7).

Results: Patients who underwent surgery had significantly larger ventricular volumes and aortic regurgitant fraction than those without surgery. Aortic regurgitant fraction and volume had the highest discriminatory power (0.93 and 0.92, respectively) between the two groups, followed by indexed left ventricular volumes (end-diastolic volume 0.85 and end-systolic volume 0.89).

Conclusions: Current guidelines for surgical intervention in children with chronic aortic regurgitation are limited. Our findings suggest potential MRI-based threshold values that may aid in surgical decision-making and highlight the need future research for aortic valve surgery in children with chronic aortic regurgitation.

Kawasaki disease is a self-limiting vasculitis of unknown aetiology, and coronary artery lesions are its most common and serious complication. The Systemic Immune-Inflammation Index is a new biomarker of inflammation that may have prognostic value in Kawasaki disease. This study evaluated patients with Kawasaki disease and the prognostic role of Systemic Immune-Inflammation Index in coronary involvement. A total of 62 children with Kawasaki disease and 49 healthy controls were included. Systemic Immune-Inflammation Index was calculated as: neutrophils × platelets/lymphocytes). Systemic Immune-Inflammation Index was also significantly higher in Kawasaki disease patients than controls (2373 ± 2040 vs. 300 ± 218, p < 0.001). Subgroup analysis of the Kawasaki disease patients showed that Systemic Immune-Inflammation Index was significantly higher in patients with coronary artery lesions than in those without (p < 0.05). In conclusion, Systemic Immune-Inflammation Index is a composite inflammatory biomarker easily obtained from routine blood parameters and may be an independent predictor of coronary artery involvement in Kawasaki disease.

In the past few decades, long-term basic research and clinical practice of surgical treatment for tetralogy of Fallot have been carried out at home and abroad, and the treatment effect has been improved, the complications and mortality have been gradually decreased. Pulmonary regurgitation is a common complication after traditional radical repair of tetralogy of Fallot, which is an important factor leading to many adverse outcomes. Valve-sparing repair has gradually become the first choice for the treatment of tetralogy of Fallot, which can effectively prevent the occurrence of postoperative pulmonary regurgitation, maintain right ventricular function, and improve the prognosis of children. However, there are controversies about the application indications and surgical strategies of valve-sparing repair, and a lack of clear clinical guidelines. This article reviews the research progress on the advantages, surgical indications, surgical techniques, prognosis and prospects of valve-sparing repair for tetralogy of Fallot, in order to provide evidence-based medical evidence for when to undergo valve-sparing repair for tetralogy of Fallot patients and to better improve the quality of life of patients.

Introduction: Transcatheter interventions are becoming increasingly used to address postoperative residual lesions after Norwood procedure with Sano shunt.

Methods: This is a single-centre retrospective review of the outcome of all cases with Sano shunt at our institution over a 6-years period (2017-2023) who underwent transcatheter interventions.

Results: Thirteen out of the total 34 patients (38%) needed transcatheter interventions. The most common interventions were left pulmonary artery balloon angioplasty (n = 6), balloon angioplasty of aortic recoarctation (n = 6), and Sano shunt stenting (n = 5). Left pulmonary artery size improved from 3 [IQR; 2-5] mm to 4.9 [IQR; 2.7-7.3] mm post-intervention (p-value = 0.068), and gradient from 28 [IQR; 25-33] mmHg to 11 [IQR; 10-13] mmHg (p-value = 0.109). Balloon angioplasty of aortic recoarctation improved vessel size from 6.7 [IQR; 4-9] mm to 9.5 [IQR; 7-13] mm (p-value = 0.066), and reduced peak-to-peak gradient from 22.3 [IQR; 10-39] mmHg to 7.6 [IQR; 4-14] mmHg (p-value = 0.109). Finally, Stenting of Sano shunt resulted in increased shunt size from 3.4 [IQR; 3.1-3.6] mm to 5.5 [IQR; 4.2-6] mm (p-value = 0.066), and improvement of the oxygen saturation from 71.3 [IQR; 69-74] % to 85.3 [IQR; 83-89] % (p-value = 0.066). There was one procedure-related death.

Conclusion: Transcatheter intervention for patients post Sano shunt is feasible with good results, improving haemodynamics and oxygenation of the patients and thereby allowing them to come on the proper time for the second stage palliation.

Superior vena cava obstruction following paediatric cardiac surgery is a rare yet serious complication. After arterial switch operations, four neonates diagnosed with acute superior vena cava thrombosis were treated using transcatheter interventions. The importance of early recognition and implementation of transcatheter intervention for a successful outcome is emphasised.

Background: Ventricular septal defect is the most common CHD and is complicated by pulmonary hypertension in about 5% of cases. Although long-term outcomes after repair are generally good, persistent pulmonary hypertension has been reported, especially before the widespread treat-and-repair strategy.

Methods: We retrospectively analysed patients aged ≥13 years who underwent repair for ventricular septal defect with pulmonary hypertension at our centre (1970-2024). Pre- and post-operative hemodynamics were assessed. Patients were grouped by preoperative pulmonary vascular resistance (≥3 vs. <3 Wood units). Residual pulmonary hypertension was evaluated by echocardiography.

Results: We studied 115 patients (43 male, 72 female). Follow-up reached 47 years (median 18.5). Residual pulmonary hypertension occurred in 3/115 (2.6%). Median age at intracardiac repair was 5 months. No significant differences were seen between patients with and without residual pulmonary hypertension in age at surgery, preoperative estimated right ventricular pressure, mean pulmonary artery pressure, or postoperative estimated right ventricular pressure. Mean pulmonary artery pressure was higher in the pulmonary vascular resistance ≥3 group than in the <3 group (47 ± 13 vs. 38 ± 11 mmHg, p = 0.019), while postoperative estimated right ventricular pressure did not differ. Among the 3 with residual pulmonary hypertension, 2 underwent intracardiac repair after 1 year of age.

Conclusions: Most patients with ventricular septal defect and pulmonary hypertension had resolution after intracardiac repair; however, residual pulmonary hypertension occurred in about 2.6% during long-term follow-up. Preoperative hemodynamics did not predict persistence. Long-term periodic follow-up remains important after surgery.

Background: Beta blocker non-adherence is a key factor in precipitating cardiac events in patients affected by congenital long QT syndrome. Adherence has been examined in adults affected by congenital long QT syndrome but not in a large paediatric group.

Method: Patients with congenital long QT syndrome types 1 and 2 were identified using a database curated by the Inherited Cardiac Conditions team in Northern Ireland. Medication adherence was reviewed by contacting the patient's GP. A medication possession ratio was then calculated for the year. Adequate adherence was defined as a ratio of ≥0.8, and ideal adherence was defined as a ratio of ≥1.0. Risk factor analysis for poor adherence was performed using multivariable binary logistic regression.

Results: 99 patients' data was suitable for analysis, 71 had LQT1 (78%) and 28 had LQT2 (28%). The median age of the children involved was ten years old. Over 36,135 days the median medication possession ratio of this patient group was 0.92. 56 patients (57%) had at least adequate adherence, of these 44 patients (44%) had ideal adherence. In contrast 43 patients (43%) had less than adequate adherence and of these six patients (6%) were completely non-adherent. Increased deprivation was significantly associated with "less than" ideal adherence Odds Ratio (OR) 1.2 95% confidence intervals CI (1.1-1.4).

Conclusion: Adherence in the paediatric cohort was mostly in the "adequate range." Increased deprivation is a risk factor for "less than" ideal adherence. A small minority of patients can be identified as completely non-adherent by checking prescription records. Future studies should focus on elucidating barriers and enablers to ideal adherence in this population.

Interrupted aortic arch is a rare congenital heart anomaly characterised by a complete discontinuity between the ascending and descending aorta, accounting for approximately 1-1.5% of CHDs. Its incidence in live births ranges from 3 to 20 per million. Survival into adulthood is only possible with the presence of a well-developed collateral circulation. In this case, a 49-year-old male patient presented with acute anterior myocardial infarction, and during emergency coronary angiography, discontinuity of the aortic arch was noticed. The procedure was successfully completed via radial access after femoral access failed. Subsequent thoracic computed tomography angiography confirmed the diagnosis of Type A interrupted aortic arch and revealed widespread collateral arterial circulation. No blood pressure difference was detected between the right-left arms and lower extremities, and the patient remained asymptomatic. This case demonstrates that this rare anomaly in adults can be incidentally detected during emergency procedures and that radial access is an effective alternative in overcoming anatomical obstacles.

We report a rare case of coronary sinus ostium atresia diagnosed due to impaired cardiac function caused by Marshall vein stenosis, which occurred during surgical treatment. Transcatheter perforation of the coronary sinus ostium and stenting of the Marshall vein stenosis improved ventricular function, enabling subsequent surgical enlargement. This staged strategy minimised surgical risks and demonstrated a reliable and effective treatment for such challenging conditions.