Imaging Features of Pediatric Left Ventricular Noncompaction Cardiomyopathy in Echocardiography and Cardiovascular Magnetic Resonance.

Background: Left ventricular noncompaction (LVNC) is a distinct cardiomyopathy characterized by the presence of a two-layer myocardium with prominent trabeculation and deep intertrabecular recesses. The diagnosis of LVNC can be challenging because the diagnostic criteria are not uniform. The aim of our study was to evaluate echocardiographic and CMR findings in a group of children with isolated LVNC. Methods: From February 2008 to July 2021, pediatric patients under 18 years of age at the time of diagnosis with echocardiographic evidence of isolated LVNC were prospectively enrolled. The patients underwent echocardiography and contrast-enhanced cardiovascular magnetic resonance (CMR) with late gadolinium enhancement to assess myocardial noncompaction, ventricular size, and function. Results: A total of 34 patients, with a median age of 11.9 years, were recruited. The patients were followed prospectively for a median of 5.1 years. Of the 31 patients who met Jenni's criteria in echocardiography, CMR was performed on 27 (79%). Further comprehensive analysis was performed in the group of 25 patients who met the echocardiographic and CMR criteria for LVNC. In echocardiography, the median NC/C ratio in systole was 2.60 and in diastole 3.40. In 25 out of 27 children (93%), LVNC was confirmed by CMR, according to Petersen's criteria, with a median NC/C ratio of 3.27. Conclusions: (1) Echocardiography precisely identifies patients with LVNC. (2) Echocardiography is a good method for monitoring LV systolic function, but CMR is indicated for the precise assessment of LV remodeling and RV size and function, as well as for the detection of myocardial fibrosis.

Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children-A Single Reference Center Experience.

BACKGROUND: Left ventricular noncompaction cardiomyopathy (LVNC) is a rare cardiac disorder characterised by the presence of a two-layer myocardium with prominent ventricular trabeculation, intertrabecular deep depressions and an increased risk of heart failure, atrial and ventricular arrhythmias and systemic thromboembolic events in affected patients. The heterogeneous molecular aetiology solved in 10%-50% of patients more frequently involves sarcomeric, cytoskeletal or ion channel protein dysfunction-mainly related to causative MYH7, TTN or MYBPC3 variants. The aim of the study was to determine the molecular spectrum of isolated LVNC in a group of children examined in a single paediatric reference centre. METHODS: Thirty-one paediatric patients prospectively diagnosed with LVNC by echocardiography and cardiovascular magnetic resonance examination were recruited into the study group. The molecular analysis included next-generation sequencing (gene panel or whole exome) and classic Sanger sequencing. All selected variants with high priority were co-segregated in the available parents. RESULTS: We identified 16 distinct variants in 11 genes in 16 patients (52%), including 10 novel alterations. The most frequent defects in our cohort were found in the genes HCN4 (n = 4), MYH7 (n = 2) and PRDM16 (n = 2). Other likely disease-causing variants were detected in ACTC1, ACTN2, HCCS, LAMA4, MYH6, RBM20, TAFFAZIN and TTN. Patients with established molecular defects more often presented with arrhythmia, thromboembolic events and death, whereas the predominant symptoms in patients with no identified molecular defects were heart failure and the presence of late gadolinium enhancement. CONCLUSION: This study expands the genetic and clinical spectrum of childhood LVNC. Although the molecular aetiology of LVNC varies widely, the comprehensive testing of a wide panel of cardiomyopathy-related genes helped to identify underlying molecular defects in more than half of the children in the study group. The molecular spectrum in our cohort correlated with the occurrence of arrhythmia, death and a family history of cardiomyopathy. We confirmed that genetic testing is an integral part of the work-up and management LVNC in children.

Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants.

BACKGROUND: Left ventricular noncompaction (LVNC) is a genetically and phenotypically heterogeneous cardiomyopathy in which myocardium consists of two, distinct compacted and noncompacted layers, and prominent ventricular trabeculations and deep intertrabecular recesses are present. LVNC is associated with an increased risk of heart failure, atrial and ventricular arrhythmias and thromboembolic events. Familial forms of primary sinus bradycardia have been attributed to alterations in HCN4. There are very few reports about the association between HCN4 and LVNC. The aim of our study was to characterize the clinical phenotype of families with LVNC and sinus bradycardia caused by pathogenic variants of the HCN4 gene. METHODS: From March 2008 to July 2021, we enrolled six patients from four families with diagnosed isolated LVNC based on the clinical presentation, family history and echocardiographic and cardiovascular magnetic resonance (CMR) evidence of LVNC. Next generation sequencing (NGS) analysis was undertaken for the evaluation of the molecular basis of the disease in each family. RESULTS: A total of six children (median age 11 years) were recruited and followed prospectively for the median of 12 years. All six patients were diagnosed with LVNC by echocardiography, and five participants additionally by CMR. The presence of late gadolinium enhancement (LGE) was found in three children. Sinus bradycardia and dilation of the ascending aorta occurred in five studied patients. In four patients from three families, the molecular studies demonstrated the presence of rare heterozygous HCN4 variants. CONCLUSION: (1) The HCN4 molecular variants influence the presence of a complex LVNC phenotype, sinus bradycardia and dilation of the ascending aorta. (2) The HCN4 alteration may be associated with the early presentation of clinical symptoms and the severe course of the disease. (3) It is particularly important to assess myocardial fibrosis not only within the ventricles, but also in the atria in patients with LVNC and sinus bradycardia.

Children with Bronchopulmonary Dysplasia-Associated Pulmonary Hypertension Treated with Pulmonary Vasodilators-The Pediatric Cardiologist Point of View.

Pulmonary hypertension in children with bronchopulmonary dysplasia (BPD-PH) significantly worsens the prognosis. Pulmonary vasodilators are often used in BPD-PH but the short-term outcome of treatment is not well described. The aim of this study was to evaluate BPD-PH children diagnosed beyond 36 weeks postmenstrual age treated with pulmonary vasodilators (sildenafil, bosentan, or both) and to assess the short and long-term effect of oral pulmonary vasodilators treatment. Twenty patients were included in the study. Cardiology evaluation (WHO-FC, NTproBNP, oxygen saturation, pulmonary to systemic pressure ratio PAP/SAP) was performed at diagnosis and after treatment initiation. In the majority of patients improvement in all evaluated factors was observed. No side effects of vasodilators were observed. PH resolved in 10 patients after a mean of 21.4 months of treatment. Six patients died. The number of poor prognostic factors commonly used to assess patients with pulmonary arterial hypertension (PAH) decreased significantly during BPD-PH treatment. The influence of BPD-PH perinatal risk factors on prognosis was considered but was not confirmed. In conclusion, the treatment of BPD-PH with pulmonary vasodilators was well tolerated and led to a clinical improvement with the possibility of discontinuation without recurrence of PH. Prognostic factors used in pediatric PAH risk stratification also seem to be useful in assessing treatment efficacy and prognosis in patients with BPD-PH.

[Kawasaki disease in children--9 years experience]. / Choroba Kawasaki u dzieci--9 letnie doswiadczenie jednego osrodka.

PURPOSE: The aim of the study was assessment of the course and treatment of Kawasaki disease on the basis of own experience. MATERIAL AND METHODS: Between November 1995 and December 2004 Kawasaki disease (KD) was diagnosed in 30 patients, (20 boys, 10 girls). The median age in acute stage was 20 months (range 1-96 months). Patients were divided into 4 groups (gr) according to changes in coronary arteries (CA). Group 1 (N=13) without CA aneurysms (CAA), group II (N=5) with small (<5mm) CAA. Group III (N=5) with medium (5-8mm) CAA, group IV (N=7) with giant (>8mm) CAA. Echocardiographic examination was performed in all patients. In echocardiographic examination the following were observed: CAA and valvar insufficiency in 15 patients, left ventricle enlargement in 3 patients, pericardial effusion in 6 patients. The treatment was intravenous immunoglobulin and aspirin in all patients, steroid treatment in 2 patients methylprednisolone, in 2 patients prednisone, in l patient hydrocortisone. The anti-inflammatory treatment was started after 10 days of illness in 66.7% of patients. Thrombi in CAA were treated in 6 patients, the treatment was: in all tissue - type plasminogen activator iv and intracoronary in 2 patients; heparin in all; enoxaparine in 3 patients; abciximab in 2 patients; acenocumarol and aspirin in all. Coronary angiographies were performed in 2 patients in acute stage of disease for thrombolytic therapy and in 4 patients during follow-up. Myocardial perfusion was assessed in SPECT (Single Photon Emission Computed Tomography) in 6 patients. Two children with giant CAA died during the first 8 months of acute stage (6.7%), 2 patients we lost from follow-up. 26 patients are in follow-up. RESULTS: during anti-inflammatory treatment (immunoglobulin, aspirin, steroid treatment) loss of fever, normalization of inflammatory markers, and no side effect, were observed except for 1 patient treated with methylprednosolone with thrombi in CAA during treatment and no side effects during treatment. During the follow-up period CAA regressed in 5 patients (35.7%), CAA became smaller in 7 patients (50%), CAA were the same in 2 patients (14.3%). Changes in echocardiographic examination: valvar insufficiency, left ventricle enlargement, pericardial effusion, disappeared during follow-up. Perfusion defects were observed in 4 patients in SPECT. In coronary angiography changes were observed in coronary arteries in 4 patients. CONCLUSIONS: 1. Kawasaki disease was diagnosed in 66.7% children after 10 days of illness. 2. Coronary artery aneurysms were found in 56.6% treated children. 3. Regression of CAA was observed in 37.5% patients mainly with small CAA. They became smaller in 50% cases mainly with medium and giant CAA. 4. Mortality rate was 6.7% and concerned children with giant CAA; they died during the first 8 months of illness. 5. Thrombolytic treatment of thrombi in CAA (rt-PA, heparin, enoxaparine, abciximab, acenocumarol, aspirin) was safe and successful. 6. In all patients with medium and giant CAA in the acute stage, changes were observed in echocardiographic, angiographic examination and myocardial perfusion during follow-up.