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According to the latest guidelines of European and American medical societies, genetic testing (GT) is essential in cardiovascular diseases for establishing diagnosis, predicting prognosis, enabling initiation of disease-modifying therapy, and preventing sudden cardiac death. The GT result may be relevant for cascade GT in the patient's relatives, for planning his/her profession and physical activity, and for procreative counseling. This position statement has been prepared due to the scarcity of GT in cardiovascular diseases in Poland and the need to expand its availability. We give a concise description of the genetic background of cardiomyopathies, channelopathies, aortopathies, familial hypercholesterolemia, pheochromocytomas, and paragangliomas. The article discusses various aspects of GT in specific populations, such as children or athletes, and also presents prenatal genetic diagnostics. We propose recommendations for GT and counselling, which take into account Polish needs and capabilities. We give an outline of legal regulations, good clinical practice in GT with respect for patient rights, the role of cardiologists and clinical geneticists in GT planning and post-test counseling, and the requirements for laboratories performing genetic tests. The Polish Cardiac Society and Polish Society of Human Genetics experts speak with one voice with cardiovascular patient communities to underline the need for a law on GT and increasing the availability of GT for cardiovascular patients.
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Doenças Cardiovasculares , Testes Genéticos , Sociedades Médicas , Humanos , Polônia , Doenças Cardiovasculares/genética , Doenças Cardiovasculares/diagnóstico , Cardiologia/normas , Aconselhamento Genético , FemininoRESUMO
According to the latest guidelines of European and American medical societies, genetic testing (GT) is essential in cardiovascular diseases for establishing diagnosis, predicting prognosis, enabling initiation of disease-modifying therapy, and preventing sudden cardiac death. The GT result may be relevant for cascade GT in the patient's relatives, for planning his/her profession and physical activity, and for procreative counseling. This position statement has been prepared due to the scarcity of GT in cardiovascular diseases in Poland and the need to expand its availability. We give a concise description of the genetic background of cardiomyopathies, channelopathies, aortopathies, familial hypercholesterolemia, pheochromocytomas, and paragangliomas. The article discusses various aspects of GT in specific populations, such as children or athletes, and also presents prenatal genetic diagnostics. We propose recommendations for GT and counselling, which take into account Polish needs and capabilities. We give an outline of legal regulations, good clinical practice in GT with respect for patient rights, the role of cardiologists and clinical geneticists in GT planning and post-test counseling, and the requirements for laboratories performing genetic tests. The Polish Cardiac Society and Polish Society of Human Genetics experts speak with one voice with cardiovascular patient communities to underline the need for a law on GT and increasing the availability of GT for cardiovascular patients.
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Doenças Cardiovasculares , Testes Genéticos , Sociedades Médicas , Humanos , Polônia , Doenças Cardiovasculares/genética , Doenças Cardiovasculares/diagnóstico , Cardiologia/normas , Aconselhamento Genético , FemininoRESUMO
BACKGROUND AND AIMS: Childhood-onset cardiomyopathies are rare and poorly characterized. This study examined the baseline characteristics and 1-year follow-up of children with cardiomyopathy in the first European Cardiomyopathy Registry. METHODS: Prospective data were collected on individuals aged 1-<18 years enrolled in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis long-term registry (June 2014-December 2016). RESULTS: A total of 633 individuals aged ≤18 years with hypertrophic [HCM; n = 388 (61.3%)], dilated [DCM; n = 206 (32.5%)], restrictive [RCM; n = 28 (4.4%)], and arrhythmogenic right ventricular cardiomyopathy [ARVC; n = 11 (1.7%)] were enrolled by 23 referral centres in 14 countries. Median age at diagnosis was 4.0 [interquartile range (IQR) 0-10] years, and there was a male predominance [n = 372 (58.8%)] across all subtypes, with the exception of DCM diagnosed <10 years of age; 621 (98.1%) patients were receiving cardiac medication and 80 (12.6%) had an implantable cardioverter-defibrillator. A total of 253 patients (253/535, 47.3%) had familial disease. Genetic testing was performed in 414 (67.8%) patients with a pathogenic or likely pathogenic variant reported in 250 (60.4%). Rare disease phenocopies were reported in 177 patients (28.0%) and were most frequent in patients under 10 years [142 (30.9%) vs. 35 (19.6%); P = .003]. Over a median follow-up of 12.5 months (IQR 11.3-15.3 months), 18 patients (3.3%) died [HCM n = 9 (2.6%), DCM n = 5 (3.0%), RCM n = 4 (16.0%)]. Heart failure events were most frequent in RCM patients (36.0%). CONCLUSIONS: The findings confirm the heterogeneous aetiology of childhood cardiomyopathies and show a high frequency of familial disease. Outcomes differed by cardiomyopathy subtype, highlighting a need for disease-specific evaluation and treatment.
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Cardiologia , Cardiomiopatias , Cardiomiopatia Hipertrófica , Miocardite , Criança , Humanos , Masculino , Adolescente , Recém-Nascido , Lactente , Pré-Escolar , Feminino , Miocardite/epidemiologia , Miocardite/etiologia , Miocardite/terapia , Estudos Prospectivos , Cardiomiopatias/epidemiologia , Cardiomiopatias/genética , Cardiomiopatias/terapia , Sistema de Registros , Cardiomiopatia Hipertrófica/diagnósticoAssuntos
Cardiomiopatias , Cardiomiopatia Hipertrófica , Desfibriladores Implantáveis , Humanos , Arritmias Cardíacas/genética , Arritmias Cardíacas/terapia , Cardiomiopatia Hipertrófica/genética , Cardiomiopatia Hipertrófica/terapia , Doença do Sistema de Condução Cardíaco , Cardiomiopatias/genética , Cardiomiopatias/terapia , Eletrofisiologia , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/prevenção & controleRESUMO
Sudden cardiac death is the most common mode of death during childhood and adolescence in hypertrophic cardiomyopathy, and identifying those individuals at highest risk is a major aspect of clinical care. The mainstay of preventative therapy is the implantable cardioverter-defibrillator, which has been shown to be effective at terminating malignant ventricular arrhythmias in children with hypertrophic cardiomyopathy but can be associated with substantial morbidity. Accurate identification of those children at highest risk who would benefit most from implantable cardioverter-defibrillator implantation while minimising the risk of complications is, therefore, essential. This position statement, on behalf of the Association for European Paediatric and Congenital Cardiology (AEPC), reviews the currently available data on established and proposed risk factors for sudden cardiac death in childhood-onset hypertrophic cardiomyopathy and current approaches for risk stratification in this population. It also provides guidance on identification of individuals at risk of sudden cardiac death and optimal management of implantable cardioverter-defibrillators in children and adolescents with hypertrophic cardiomyopathy.
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Cardiomiopatia Hipertrófica , Desfibriladores Implantáveis , Adolescente , Criança , Humanos , Arritmias Cardíacas/etiologia , Cardiomiopatia Hipertrófica/terapia , Morte Súbita Cardíaca/etiologia , Fatores de RiscoRESUMO
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.
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Cardiomiopatias , Insuficiência Cardíaca , Arritmias Cardíacas/genética , Cardiomiopatias/diagnóstico por imagem , Cardiomiopatias/genética , Criança , Meios de Contraste , Gadolínio , Perfil Genético , Humanos , SíndromeRESUMO
BACKGROUND: Up to one-half of childhood sarcomeric hypertrophic cardiomyopathy (HCM) presents before the age of 12 years, but this patient group has not been systematically characterized. OBJECTIVES: The aim of this study was to describe the clinical presentation and natural history of patients presenting with nonsyndromic HCM before the age of 12 years. METHODS: Data from the International Paediatric Hypertrophic Cardiomyopathy Consortium on 639 children diagnosed with HCM younger than 12 years were collected and compared with those from 568 children diagnosed between 12 and 16 years. RESULTS: At baseline, 339 patients (53.6%) had family histories of HCM, 132 (20.9%) had heart failure symptoms, and 250 (39.2%) were prescribed cardiac medications. The median maximal left ventricular wall thickness z-score was 8.7 (IQR: 5.3-14.4), and 145 patients (27.2%) had left ventricular outflow tract obstruction. Over a median follow-up period of 5.6 years (IQR: 2.3-10.0 years), 42 patients (6.6%) died, 21 (3.3%) underwent cardiac transplantation, and 69 (10.8%) had life-threatening arrhythmic events. Compared with those presenting after 12 years, a higher proportion of younger patients underwent myectomy (10.5% vs 7.2%; P = 0.045), but fewer received primary prevention implantable cardioverter-defibrillators (18.9% vs 30.1%; P = 0.041). The incidence of mortality or life-threatening arrhythmic events did not differ, but events occurred at a younger age. CONCLUSIONS: Early-onset childhood HCM is associated with a comparable symptom burden and cardiac phenotype as in patients presenting later in childhood. Long-term outcomes including mortality did not differ by age of presentation, but patients presenting at younger than 12 years experienced adverse events at younger ages.
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Cardiomiopatia Hipertrófica , Desfibriladores Implantáveis , Insuficiência Cardíaca , Transplante de Coração , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/epidemiologia , Cardiomiopatia Hipertrófica/terapia , Criança , Morte Súbita Cardíaca/prevenção & controle , Desfibriladores Implantáveis/efeitos adversos , Insuficiência Cardíaca/epidemiologia , Transplante de Coração/efeitos adversos , HumanosRESUMO
BACKGROUND: Maximal left ventricular wall thickness (MLVWT) is a risk factor for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). In adults, the severity of left ventricular hypertrophy has a nonlinear relationship with SCD, but it is not known whether the same complex relationship is seen in childhood. The aim of this study was to describe the relationship between left ventricular hypertrophy and SCD risk in a large international pediatric HCM cohort. METHODS: The study cohort comprised 1075 children (mean age, 10.2 years [±4.4]) diagnosed with HCM (1-16 years) from the International Paediatric Hypertrophic Cardiomyopathy Consortium. Anonymized, noninvasive clinical data were collected from baseline evaluation and follow-up, and 5-year estimated SCD risk was calculated (HCM Risk-Kids). RESULTS: MLVWT Z score was <10 in 598 (58.1%), ≥10 to <20 in 334 (31.1%), and ≥20 in 143 (13.3%). Higher MLVWT Z scores were associated with heart failure symptoms, unexplained syncope, left ventricular outflow tract obstruction, left atrial dilatation, and nonsustained ventricular tachycardia. One hundred twenty-two patients (71.3%) with MLVWT Z score ≥20 had coexisting risk factors for SCD. Over a median follow-up of 4.9 years (interquartile range, 2.3-9.3), 115 (10.7%) had an SCD event. Freedom from SCD event at 5 years for those with MLVWT Z scores <10, ≥10 to <20, and ≥20 was 95.6%, 87.4%, and 86.0, respectively. The estimated SCD risk at 5 years had a nonlinear, inverted U-shaped relationship with MLVWT Z score, peaking at Z score +23. The presence of coexisting risk factors had a summative effect on risk. CONCLUSIONS: In children with HCM, an inverted U-shaped relationship exists between left ventricular hypertrophy and estimated SCD risk. The presence of additional risk factors has a summative effect on risk. While MLVWT is important for risk stratification, it should not be used either as a binary variable or in isolation to guide implantable cardioverter defibrillator implantation decisions in children with HCM.
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Cardiomiopatia Hipertrófica , Desfibriladores Implantáveis , Adulto , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Criança , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/etiologia , Desfibriladores Implantáveis/efeitos adversos , Ventrículos do Coração/diagnóstico por imagem , Humanos , Hipertrofia Ventricular Esquerda/complicações , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Estudos Retrospectivos , Medição de Risco , Fatores de RiscoRESUMO
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.
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Cardiomiopatias , Cardiopatias Congênitas , Bradicardia/genética , Cardiomiopatias/genética , Meios de Contraste , Gadolínio , Humanos , Canais Disparados por Nucleotídeos Cíclicos Ativados por Hiperpolarização/genética , Proteínas Musculares/genética , Canais de Potássio/genética , SíndromeRESUMO
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.
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Background: Left ventricular non-compaction (LVNC) is a rare cardiomyopathy typically involving the left ventricle (LV); however, the right ventricle (RV) can also be affected. This case-control study aimed to assess the morphology and function of LV and RV in children with LVNC. Methods: Sixteen children (13 ± 3 years, six girls) with LVNC were compared with 16 sex- and age-matched controls. LV and RV morphology and function were evaluated in cardiovascular magnetic resonance (CMR) studies. Additionally, LV and RV global radial (GRS), circumferential (GCS), and longitudinal strain (GLS) were assessed using tissue-tracking analysis. Results: Patients with LVNC did not differ from the healthy controls in terms of age, height, weight, and body surface area (BSA). In total, 4/16 subjects with LVNC had mid-wall late gadolinium enhancement (LGE). Compared to the control group, patients with LVNC had higher end-diastolic volume (EDV) indexed for body surface area (BSA), lower ejection fraction (EF), and lower LV strain parameters (all p < 0.05). Children with LVNC also presented with thicker RV apical trabeculation, whereas there were no differences in RV EF and EDV/BSA between the groups. Nevertheless, children with LVNC had impaired RV GRS and GCS (both p < 0.05). Conclusions: LVNC in pediatric patients is associated with LV enlargement and impaired LV systolic function. Additionally, children with LVNC have increased RV trabeculations and subclinical impairment of RV myocardial deformation.
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AIMS: The 12-lead electrocardiogram (ECG) is routinely performed in children with hypertrophic cardiomyopathy (HCM). An ECG risk score has been suggested as a useful tool for risk stratification, but this has not been independently validated. This aim of this study was to describe the ECG phenotype of childhood HCM in a large, international, multi-centre cohort and investigate its role in risk prediction for arrhythmic events. METHODS AND RESULTS: Data from 356 childhood HCM patients with a mean age of 10.1 years (±4.5) were collected from a retrospective, multi-centre international cohort. Three hundred and forty-seven (97.5%) patients had ECG abnormalities at baseline, most commonly repolarization abnormalities (n = 277, 77.8%); left ventricular hypertrophy (n = 240, 67.7%); abnormal QRS axis (n = 126, 35.4%); or QT prolongation (n = 131, 36.8%). Over a median follow-up of 3.9 years (interquartile range 2.0-7.7), 25 (7%) had an arrhythmic event, with an overall annual event rate of 1.38 (95% CI 0.93-2.04). No ECG variables were associated with 5-year arrhythmic event on univariable or multivariable analysis. The ECG risk score threshold of >5 had modest discriminatory ability [C-index 0.60 (95% CI 0.484-0.715)], with corresponding negative and positive predictive values of 96.7% and 6.7. CONCLUSION: In a large, international, multi-centre cohort of childhood HCM, ECG abnormalities were common and varied. No ECG characteristic, either in isolation or combined in the previously described ECG risk score, was associated with 5-year sudden cardiac death risk. This suggests that the role of baseline ECG phenotype in improving risk stratification in childhood HCM is limited.
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Cardiomiopatia Hipertrófica , Morte Súbita Cardíaca , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/diagnóstico , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/etiologia , Eletrocardiografia/métodos , Humanos , Fenótipo , Estudos Retrospectivos , Medição de Risco , Fatores de RiscoRESUMO
AIMS: Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed to describe the aetiology, phenotype, and outcomes of infantile HCM in a well-characterized multicentre European cohort. METHODS AND RESULTS: Of 301 children diagnosed with infantile HCM between 1987 and 2019 presenting to 17 European centres [male n = 187 (62.1%)], underlying aetiology was non-syndromic (n = 138, 45.6%), RASopathy (n = 101, 33.6%), or inborn error of metabolism (IEM) (n = 49, 16.3%). The most common reasons for presentation were symptoms (n = 77, 29.3%), which were more prevalent in those with syndromic disease (n = 62, 61.4%, P < 0.001), and an isolated murmur (n = 75, 28.5%). One hundred and sixty-one (53.5%) had one or more co-morbidities. Genetic testing was performed in 163 (54.2%) patients, with a disease-causing variant identified in 115 (70.6%). Over median follow-up of 4.1 years, 50 (16.6%) underwent one or more surgical interventions; 15 (5.0%) had an arrhythmic event (6 in the first year of life); and 48 (15.9%) died, with an overall 5 year survival of 85%. Predictors of all-cause mortality were an underlying diagnosis of IEM [hazard ratio (HR) 4.4, P = 0.070], cardiac symptoms (HR 3.2, P = 0.005), and impaired left ventricular systolic function (HR 3.0, P = 0.028). CONCLUSIONS: This large, multicentre study of infantile HCM describes a complex cohort of patients with a diverse phenotypic spectrum and clinical course. Although overall outcomes were poor, this was largely related to underlying aetiology emphasizing the importance of comprehensive aetiological investigations, including genetic testing, in infantile HCM.
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Cardiomiopatia Hipertrófica , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/epidemiologia , Cardiomiopatia Hipertrófica/genética , Estudos de Coortes , Feminino , Testes Genéticos , Humanos , Masculino , Sístole , Função Ventricular EsquerdaRESUMO
(1) Introduction: The aim of this study is to assess retinal vessel density (VD) in the superficial capillary plexus layer (SP) and deep capillary plexus layer (DP) in children with chronic heart failure (CHF) in the course of dilated cardiomyopathy (DCM) using optical coherence tomography angiography (OCTA). (2) Methods: Thirty children with CHF due to DCM lasting more than six months, with an enlarged left ventricle and impaired left ventricular systolic function (left ventricular ejection fraction (LVEF) ≤ 55%), were enrolled to have both their eyes assessed for this study. Mean age of the children was 9.9 ± 3.57 years. The control group consisted of an additional 30 children without CHF (mean age 11.27 ± 3.33 years) matched for age and gender against the study group. All participants underwent transthoracic echocardiography to measure LVEF using Simpson method. Blood serum was tested for N-terminal-pro-brain natriuretic peptide (NT-proBNP) marker value. All children underwent OCTA with evaluation of the foveal avascular zone (FAZ), whole superficial vessel density (wsVD), foveal superficial vessel density (fsVD), parafoveal superficial vessel density (psVD), whole deep vessel density (wdVD), foveal deep vessel density (fdVD), parafoveal deep vessel density (pdVD), whole thickness (WT), foveal thickness (FT), and parafoveal thickness (PFT). (3) Results: Retinal VD in SP was significantly lower in children with CHF as compared to the controls. The following SP parameters in the study group were statistically significantly lower than these same measurements for the control group. Details, with study group findings quantified first, include wsVD (46.2% vs. 49.83%, p < 0.05), fsVD (18.07% vs. 24.15%, p < 0.05), and psVD (49.24% vs. 52.51%, p < 0.05). The WT (311.03 micrometers (µm) vs. 323.55 µm, p < 0.05), FT (244.57 µm vs. 256.98 µm, p < 0.05), and PFT (320.63 µm vs. 332.02 µm, p < 0.05). No significant differences in DP retinal VD were found between the two groups. No statistically significant differences in the FAZ were found. The fsVD and FT were correlated with biometry and the age of the study participants. There was a correlation between FAZ and FT (p < 0.001). There were no correlations between retinal VD in both plexuses and refractive error, sex, NT-proBNP, and LVEF. (4) Conclusions: In children with CHF in the course of DCM as compared to the control group, significantly decreased retinal VD in SP was observed. The results of our study indicate that measurements of the OCTA may be a useful diagnostic method in children with chronic heart failure, but it is necessary to conduct further studies in larger groups of participants and long-term observation of these patients.
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PURPOSE: To evaluate choroidal thickness (CTh) in children with chronic heart failure (CHF) secondary to dilated cardiomyopathy (DCM) using spectral domain optical coherence tomography (SD-OCT) and to compare their values to those of healthy children. METHODS: Sixty eyes of thirty children (mean age 9.9 ± 3.57 years) with chronic heart failure (left ventricular ejection fraction, LVEF ≤ 55%) due to DCM lasting for over 6 months were prospectively enrolled. The control group consisted of 30 age- (mean age 10.16 ± 3.42 years) and sex-matched healthy children. All participants underwent transthoracic echocardiography with LVEF measured using the Simpson method and had the blood serum level of N-terminal-pro-brain natriuretic peptide marker (NT-proBNP) determined. All children underwent SD-OCT and had subfoveal choroidal thickness (SFCTh) and CTh measured at 1500 µm (µm) nasally, temporally, superiorly and inferiorly from the fovea in both eyes by two investigators. RESULTS: CTh at all locations was statistically significantly lower in children with DCM compared to the control group. Mean CTh in the group with CHF compared to the control group were (304.03 vs. 369.72 µm, p < 0.05) at the subfoveal location, (245.87 vs. 284 µm, p < 0.05) 1500 µm nasally from the fovea, (291.5 vs. 355.95 µm, p < 0.05) 1500 µm temporally from the fovea, (303.98 vs. 357.58 µm, p < 0.05) 1500 µm superiorly from the fovea and (290.92 vs. 344.96 µm, p < 0.05) 1500 µm inferiorly from the fovea. The average difference CTh between the study groups ranged from 38.13 to 65.69 µm at individual locations. In both groups, CTh was the thickest at subfoveal location (304.03 vs. 369.72 µm, p < 0.05) and the thinnest was 1500 µm nasally from the fovea (262.37 vs. 336.87 µm, p < 0.05). There was no correlation between CTh and age, gender, biometry and refractive error. No correlation was found between CTh and LVEF and NT-proBNP. CONCLUSION: Patients with CHF due to DCM had a thinner CTh at all measured locations. The results of our research indicate that CHF affects CTh and this parameter may be very helpful in monitoring the clinical course of the disease in children with DCM.
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Cardiomiopatia Dilatada , Insuficiência Cardíaca , Adolescente , Cardiomiopatia Dilatada/complicações , Cardiomiopatia Dilatada/diagnóstico , Criança , Corioide , Estudos Transversais , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/diagnóstico , Humanos , Volume Sistólico , Tomografia de Coerência Óptica , Função Ventricular EsquerdaRESUMO
Myocardial ischemia caused by microvascular dysfunction is an important pathophysiologic component of hypertrophic cardiomyopathy (HCM), promoting myocardial fibrosis, adverse left ventricular remodeling, and impacting on clinical course and outcome in HCM patients. The aim of study was to assess the prevalence and clinical significance of myocardial ischemia in children with HCM using 99mTc-MIBI single-photon emission computed tomography (SPECT). Ninety-one children with HCM, median age 13.6 years, underwent SPECT evaluation from 2006 to 2017. Imaging was performed at rest and after maximal exercise. Myocardial perfusion defects were identified in 70 children (76.9%; group I), median age 13.8 years. Fixed perfusion defects were evident in 22 of them, while reversible at rest in 48. In 21 children (23.1%; group II), median age 11 years, myocardial perfusion defects were not detected. Patient demographics, echocardiography, resting electrocardiogram (ECG), 24-h Holter ECG, myocardial fibrosis in cardiovascular magnetic resonance imaging, and cardiovascular events were analyzed and compared between the groups. During follow-up at a median of 8.3 years in children with myocardial ischemia, clinical endpoints occurred more often (47 vs. 5; p = 0.02) and more patients reached a clinical endpoint (28 [40%] vs. 3 [14.3%]; p = 0.036). In children with myocardial ischemia, myocardial fibrosis was observed with greater frequency. Myocardial perfusion defects may reflect an ischemic process which (1) affects the clinical manifestations and (2) is an important predictor of adverse clinical events and risk of death in children with HCM. Myocardial ischemia in HCM patients frequently correlates with myocardial fibrosis.
Assuntos
Cardiomiopatia Hipertrófica/fisiopatologia , Isquemia Miocárdica/diagnóstico por imagem , Tomografia Computadorizada de Emissão de Fóton Único/métodos , Adolescente , Cardiomiopatia Hipertrófica/complicações , Criança , Ecocardiografia/métodos , Eletrocardiografia/métodos , Feminino , Fibrose/etiologia , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Isquemia Miocárdica/epidemiologia , Prognóstico , Estudos Prospectivos , Remodelação VentricularRESUMO
BACKGROUND: Although hypertrophic cardiomyopathy (HCM) is considered a disease of the left ventricle (LV), right ventricular (RV) abnormalities have also been reported on. Cardiovascular magnetic resonance feature tracking (CMR-FT) accurately and reproducibly quantifies RV myocardial deformation. AIM: To investigate RV deformation disorders in childhood HCM using CMR-FT. MATERIAL AND METHODS: Consecutive subjects aged <18 years with echocardiographic evidence of HCM were enrolled. Cardiovascular magnetic resonance (CMR) was performed including RV volumetric and functional assessment, and late gadolinium enhancement (LGE) imaging. RESULTS: We included 54 children (37 males, 68.5%) with HCM, of which 28 patients (51.8%; mean extent of 2.18 ± 2.34% of LV mass) had late gadolinium enhancement. LV outflow tract obstruction (LVOTO) was detected in 19 subjects (35.2%). In patients with LVOTO, RV global longitudinal strain (RVGLS) (-16.1±5.0 vs. -20.7±5.3, p<0.01), RVGLS rate (-1.05±0.30 vs. -1.26±0.40, p = 0.03), RV radial strain (RVR) (15.8±7.7 vs. 22.1±7.0, p<0.01) and RVR rate (0.95±0.35 vs. 1.6±0.44, p<0.01) were lower than in patients without LVOTO. The RVR rate (p<0.01) was lower in patients with LGE in comparison to patients without LGE. CONCLUSIONS: Children with HCM, especially with LVOTO, have significantly reduced indices of RV mechanics despite normal RV systolic function. It seems that the degree of LVOT obstruction is responsible for compromising the RV dynamics, rather than either mass or the amount of LV fibrosis.
Assuntos
Cardiomiopatia Hipertrófica/complicações , Ventrículos do Coração/diagnóstico por imagem , Imagem Cinética por Ressonância Magnética/métodos , Disfunção Ventricular Direita/diagnóstico , Obstrução do Fluxo Ventricular Externo/diagnóstico , Adolescente , Cardiomiopatia Hipertrófica/fisiopatologia , Criança , Meios de Contraste/administração & dosagem , Feminino , Gadolínio/administração & dosagem , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Disfunção Ventricular Direita/etiologia , Função Ventricular Direita/fisiologia , Obstrução do Fluxo Ventricular Externo/etiologiaRESUMO
INTRODUCTION: The most efficient risk stratification algorithms are expected to deliver robust and indefectible identification of high-risk children with hypertrophic cardiomyopathy (HCM). Here we compare algorithms for risk stratification in primary prevention in HCM children and investigate whether novel indices of biatrial performance improve these algorithms. METHODS AND RESULTS: The endpoints were defined as sudden cardiac death, resuscitated cardiac arrest, or appropriate implantable cardioverter-defibrillator discharge. We examined the prognostic utility of classic American College of Cardiology/American Heart Association (ACC/AHA) risk factors, the novel HCM Risk-Kids score and the combination of these with indices of biatrial dynamics. The study consisted of 55 HCM children (mean age 12.5 ± 4.6 years, 69.1% males); seven had endpoints (four deaths, three appropriate ICD discharges). A strong trend (DeLong p = 0.08) was observed towards better endpoint identification performance of the HCM Risk-Kids Model compared to the ACC/AHA strategy. Adding the atrial conduit function component significantly improved the prediction capabilities of the AHA/ACC Model (DeLong p = 0.01) and HCM Risk-Kids algorithm (DeLong p = 0.04). CONCLUSIONS: The new HCM Risk-Kids individualised algorithm and score was capable of identifying high-risk children with very good accuracy. The inclusion of one of the atrial dynamic indices improved both risk stratification strategies.
RESUMO
PURPOSE: To assess ganglion cell complex (GCC) thickness in children with chronic heart failure (CHF) due to dilated cardiomyopathy (DCM) using optical coherence tomography (OCT). METHODS: Sixty eyes of 30 patients with chronic heart failure (CHF) due to dilated cardiomyopathy (DCM) and 60 eyes of 30 age- and sex-matched healthy volunteers (control group) were enrolled. The mean age of the patients and controls was 9.9 ± 3.57 (range 5-17) years and 10.08 ± 3.41 (range 4-16) years, respectively. All patients underwent a complete ophthalmic assessment and OCT imaging using RTVue XR Avanti (Optovue). The following OCT-based parameters were analysed: average ganglion cell complex thickness (avgGCC), superior ganglion cell complex thickness (supGCC), inferior ganglion cell complex thickness (infGCC), global loss of volume (GLV) and focal loss of volume (FLV). RESULTS: There were no significant differences in avgGCC (98.13 µm vs. 99.96 µm, p = 0.21), supGCC (97.17 µm vs. 99.29 µm, p = 0.13), infGCC (99.03 µm vs. 100.71 µm, p = 0.25), FVL (0.49% vs. 0.4%, p = 0.25) and GVL (2.1% vs. 1.3%, p = 0.09) between patients with chronic heart failure due to dilated cardiomyopathy and healthy children. There was no correlation between avgGCC, supGCC, infGCC, FLV, GLV and ocular biometry, refractive errors or age. There was no correlation between avgGCC, supGCC, infGCC, FLV, GLV and NT-proBNP or LVEF. There were no significant differences in the studied parameters between the sexes. There were no significant differences in the studied parameters between the left and right eye. CONCLUSION: Our study seems to be the first to analyse ganglion cell complex in paediatric patients with dilated cardiomyopathy. We have demonstrated no changes in the ganglion cell complex thickness parameters in children with chronic heart failure due dilated cardiomyopathy, as compared to their healthy peers.