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Spontaneous recanalization of a coronary thrombus is an uncommon finding that may be confounded without intravascular imaging. There is little evidence regarding the functional impact of these lesions, which may be relevant to proper management. We present two cases of recanalized thrombus in which functional testing guided appropriate management.
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Dynamic obstruction of the left ventricle is an unusual complication that can occur after aortic valve replacement. It is important to be aware of this pathology as it requires different management than normal complications and can rapidly lead to death. We present a case of successful resolution following transcatheter aortic valve implantation.
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Substituição da Valva Aórtica Transcateter , Humanos , Substituição da Valva Aórtica Transcateter/efeitos adversos , Estenose da Valva Aórtica/cirurgia , Idoso de 80 Anos ou mais , Ablação por Cateter/efeitos adversos , Obstrução do Fluxo Ventricular Externo/etiologia , Obstrução do Fluxo Ventricular Externo/cirurgia , Obstrução do Fluxo Ventricular Externo/diagnóstico por imagem , Septos Cardíacos/cirurgia , Septos Cardíacos/diagnóstico por imagem , Masculino , Feminino , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/terapia , Complicações Pós-Operatórias/cirurgia , IdosoRESUMO
Background: Exercise training in patients with HCM has evidenced benefits on functional capacity, cardiac function, and a reversion of adverse cardiac remodeling. The objective of this study was to assess the effect of a concurrent resistance and cardiorespiratory training program on functional capacity, biochemical parameters, and echocardiographic variables in a pilot group. Methods: Two HCM patients were evaluated before and after 12 weeks of individualized concurrent training with two sessions/week. Pre- and post-training data were compared for each patient. Evaluations included a cardiopulmonary exercise test (CPET), body composition, echocardiography, electrocardiography, and blood analysis. Results: Training promoted an increase in functional capacity (+4 mL·kg-1·min-1), ventilatory thresholds, and other CPET-derived variables associated with a better prognosis and long-term survival. Muscular mass was augmented (0.8 and 1.2 kg), along with a mean increase of 62% in upper and lower body strength. Echocardiographic features demonstrated the maintenance of cardiac function with signs of positive left ventricular remodeling and an improvement in diastolic function. Blood analyses, including cardiac troponins and NT-proBNP, displayed uneven changes in each patient, but the values fell into normal ranges in both cases. Conclusions: The available data suggest a positive effect of concurrent resistance and cardiorespiratory training on patients' functional capacity and cardiac function that may improve their functional class, quality of life, and long-term prognosis. The replication of this protocol in a larger cohort of patients is warranted to confirm these preliminary results.
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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/diagnósticoRESUMO
Objetivo: El objetivo fue desarrollar un cribado de detección de cardiopatías en atención primaria, para identificar alteraciones electrocardiográficas patológicas y cardiopatías subyacentes en adolescentes. Diseño: Durante un año se realizó el estudio mediante muestreo polietápico. Lugar: Se seleccionaron los centros asistenciales de atención primaria en un área de salud, que dispusieran de equipo de electrocardiograma (ECG) digital (12 centros). Participantes: Inicialmente, se reclutó a 718 (16,6%) adolescentes de 14 años y se excluyeron a los que tenían un diagnóstico de cardiopatía previo. Intervención: El cribado consistió en incluir en la revisión obligatoria de los 14 años un cuestionario de salud y un ECG. Principales medidas: Para el cribado se realizó cuestionario, auscultación cardíaca, ECG y ecocardiografía. Se establecieron criterios de anormalidad para remitir a una segunda valoración por un cardiólogo. Resultados: Finalmente la muestra la componen 698 adolescentes, con una edad media de 13,7± 0,5 años, de los cuales 354 (50,7%) fueron chicos. Fueron seleccionados 149 (21,3%) para la segunda revisión por cardiología: 88 (12,6%) por cuestionario positivo, 11 (2,2%) por auscultación cardíaca anormal y 66 (9,5%) por hallazgos en ECG. Los adolescentes con evidencia de cardiopatía fueron 24 (3,4%). De ellos, 14 (2,0%) tuvieron alteraciones sugestivas y se les recomendó seguimiento, 6 (0,9%) tuvieron diagnóstico definitivo de cardiopatía y 4 (0,6%) tenían otros hallazgos patológicos relacionados con el sistema cardiovascular. Conclusiones: El cribado permitió identificar un 1% de adolescentes con cardiopatía y otro 2% permanecerá en seguimiento. El ECG detectó más casos patológicos que el cuestionario.(AU)
Objective: The objective was to develop a screening for heart disease detection in primary care, to identify pathological electrocardiographic changes and underlying heart disease in adolescents. Design: The study was carried out for one year using multistage sampling. Site: Primary care centers in a health area that had digital ECG equipment (12 centers) were selected. Participants: Initially, 718 (16.6%) 14-year-old adolescents were recruited and those with a previous diagnosis of heart disease were excluded. Interventions: Screening consisted of including a health questionnaire in the mandatory 14-year-old check-up. Main measurements: Screening included a questionnaire, cardiac auscultation, ECG and echocardiography. Abnormality criteria were established to refer for a second evaluation by a cardiologist. Results: Finally, the sample was made up of 698 adolescents, with a mean age of 13.7±0.5 years, and 354 (50.7%) were boys. A total of 149 (21.3%) were selected for a second review by cardiology: 88 (12.6%) due to a positive questionnaire, 11 (2.2%) due to abnormal cardiac auscultation, and 66 (9.5%) due to ECG findings. Adolescents with evidence of heart disease were 24 (3.4%). Of these, 14 (2.0%) had suggestive alterations and follow-up was recommended, 6 (0.9%) had a definitive diagnosis of heart disease, and 4 (0.6%) had other pathological findings related to the cardiovascular system. Conclusions: The screening allowed us to identify 1% of adolescents with heart disease and another 2% will remain in follow-up. The ECG detected more pathological cases than the questionnaire.(AU)
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Humanos , Masculino , Feminino , Criança , Adolescente , Cardiopatias , Atenção Primária à Saúde , Eletrocardiografia , Programas de Rastreamento , Morte Súbita Cardíaca , Estudos Prospectivos , Espanha , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: The objective was to develop a screening for heart disease detection in primary care, to identify pathological electrocardiographic changes and underlying heart disease in adolescents. DESIGN: The study was carried out for one year using multistage sampling. SITE: Primary care centers in a health area that had digital ECG equipment (12 centers) were selected. PARTICIPANTS: Initially, 718 (16.6%) 14-year-old adolescents were recruited and those with a previous diagnosis of heart disease were excluded. INTERVENTIONS: Screening consisted of including a health questionnaire in the mandatory 14-year-old check-up. MAIN MEASUREMENTS: Screening included a questionnaire, cardiac auscultation, ECG and echocardiography. Abnormality criteria were established to refer for a second evaluation by a cardiologist. RESULTS: Finally, the sample was made up of 698 adolescents, with a mean age of 13.7±0.5 years, and 354 (50.7%) were boys. A total of 149 (21.3%) were selected for a second review by cardiology: 88 (12.6%) due to a positive questionnaire, 11 (2.2%) due to abnormal cardiac auscultation, and 66 (9.5%) due to ECG findings. Adolescents with evidence of heart disease were 24 (3.4%). Of these, 14 (2.0%) had suggestive alterations and follow-up was recommended, 6 (0.9%) had a definitive diagnosis of heart disease, and 4 (0.6%) had other pathological findings related to the cardiovascular system. CONCLUSIONS: The screening allowed us to identify 1% of adolescents with heart disease and another 2% will remain in follow-up. The ECG detected more pathological cases than the questionnaire.
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Morte Súbita Cardíaca , Cardiopatias , Masculino , Humanos , Adolescente , Feminino , Morte Súbita Cardíaca/prevenção & controle , Eletrocardiografia , Cardiopatias/diagnóstico , Ecocardiografia , Programas de RastreamentoRESUMO
INTRODUCTION AND OBJECTIVES: Arrhythmogenic cardiomyopathy (ACM) is a hereditary heart disease defined by the progressive replacement of the ventricular myocardium with fibroadipose tissue, which can act as a substrate for arrhythmias, sudden death, or even give rise to heart failure (HF). Sudden death is frequently the first manifestation of the disease, particularly among young patients. The aim of this study is to describe a new pathogenic variant in the PKP2 gene. METHODS: A descriptive observational study that included eight initially non-interrelated families with a diagnosis of ACM undergoing follow-up at our HF and Familial Cardiomyopathies Unit, who were carriers of the NM_004572.3:c.775_776insG; p.(Glu259Glyfs*77) variant in the PKP2 gene. The genetic testing employed next-generation sequencing for the index cases and the Sanger method for the targeted study with family members. We compiled personal and family histories, demographic and clinical characteristics, data from the additional tests at the time of diagnosis, and arrhythmic events at diagnosis and during follow-up. RESULTS: We included 47 subjects, of whom 8 were index cases (17%). Among the evaluated family members, 16 (34%) were carriers of the genetic variant, 3 of whom also had a diagnosis of ACM. The majority were women (26 patients; 55.3%), with a mean age on diagnosis of 48.9 ± 18.6 years and a median follow-up of 39 [24-59] months. Worthy of note are the high incidences of arrhythmic events as the form of presentation and in follow-up (21.5% and 20.9%, respectively), and the onset of HF in 25% of the sample. The most frequent ventricular involvements were right (four patients, 16.7%) and biventricular (four patients, 16.7%); we found no statistical differences in any of the variables analysed. CONCLUSIONS: This variant is a pathogenic variant of gene PKP2 that has not previously been described and is not present in the control groups associated with ACM. It has incomplete penetrance, a highly variable phenotypic expressivity, and was identified in eight families of our geographical area in Malaga (Andalusia, Spain), suggesting a founder effect in this area and describe the clinical and risk characteristics.
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Displasia Arritmogênica Ventricular Direita , Cardiomiopatias , Insuficiência Cardíaca , Humanos , Masculino , Feminino , Displasia Arritmogênica Ventricular Direita/diagnóstico , Espanha , Cardiomiopatias/genética , Heterozigoto , Testes Genéticos , Insuficiência Cardíaca/genética , Placofilinas/genéticaRESUMO
INTRODUCTION AND OBJECTIVES: Missense mutations in the filamin C (FLNC) gene have been reported as cause of inherited cardiomyopathy. Knowledge of the pathogenicity and genotype-phenotype correlation remains scarce. Our aim was to describe a distinctive cardiac phenotype related to rare missense FLNC variants in the ROD2 domain. METHODS: We recruited 21 unrelated families genetically evaluated because of hypertrophic cardiomyopathy (HCM)/restrictive cardiomyopathy (RCM) phenotype carrying rare missense variants in the ROD2 domain of FLNC (FLNC-mRod2). Carriers underwent advanced cardiac imaging and genetic cascade screening. Myocardial tissue from 3 explanted hearts of a missense FLNC carrier was histologically analyzed and compared with an FLNC-truncating variant heart sample and a healthy control. Plasmids independently containing 3 FLNC missense variants were transfected and analyzed using confocal microscopy. RESULTS: Eleven families (52%) with 20 assessed individuals (37 [23.7-52.7]) years showed 15 cases with a cardiac phenotype consisting of an overlap of HCM-RCM and left ventricular hypertrabeculation (saw-tooth appearance). During a median follow-up of 6.49 years, they presented with advanced heart failure: 16 (80%) diastolic dysfunction, 3 heart transplants, 3 heart failure deaths) and absence of cardiac conduction disturbances or skeletal myopathy. A total of 6 families had moderate genotype-phenotype segregation, and the remaining were de novo variants. Differential extracellular matrix remodeling and FLNC distribution among cardiomyocytes were confirmed on histology. HT1080 and H9c2 cells did not reveal cytoplasmic aggregation of mutant FLNC. CONCLUSIONS: FLNC-mRod2 variants show a high prevalence of an overlapped phenotype comprising RCM, HCM and deep hypertrabeculation with saw-tooth appearance and distinctive cardiac histopathological remodeling.
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Cardiomiopatias , Cardiomiopatia Hipertrófica , Cardiomiopatia Restritiva , Insuficiência Cardíaca , Humanos , Cardiomiopatia Restritiva/genética , Mutação de Sentido Incorreto , Mutação , Filaminas/genética , Fenótipo , Miocárdio , Cardiomiopatias/diagnóstico , Cardiomiopatias/genética , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/genéticaRESUMO
INTRODUCTION AND OBJECTIVES: Hereditary transthyretin amyloidosis (hATTR) is a disease caused by mutations in the transthyretin gene that frequently shows cardiac involvement due to amyloid deposition in the myocardium. Our objective was to identify cardiac involvement in a Spanish cohort. METHODS: Retrospective multicenter study of patients diagnosed with hATTR with cardiac involvement from Spanish centers. We collected demographic, clinical, and genetic data. RESULTS: A total of 181 patients from 26 centers were included (65.2% men, with a median age at diagnosis of 62 years). The most frequent mutations were Val50Met (67.7%) and Val142Ile (12.4%). The main reason for consultation was extracardiac symptoms (69%), mainly neurological. The mean N-terminal pro-B-type natriuretic peptide level was 2145±3586 pg/mL. The most characteristic electrocardiogram findings were a pseudoinfarct pattern (25.9%) and atrioventricular block (25.3%). Mean ventricular thickness was 15.4±4.1mm. Longitudinal strain was reduced in basal segments by 29.4%. Late diffuse subendocardial enhancement was observed in 58.8%. Perugini grade 2 or 3 uptake was observed in 75% of scintigraphy scans. During follow-up, 24.9% of the patients were admitted for heart failure, 34.3% required a pacemaker, and 31.6% required a liver transplant. One third (32.5%) died during follow-up, mainly due to heart failure (28.8%). The presence of non-Val50Met mutations was associated with a worse prognosis. CONCLUSIONS: HATTR cardiac amyloidosis in Spain shows heterogeneous genetic and clinical involvement. The prognosis is poor, mainly due to cardiac complications. Consequently early diagnosis and treatment are vital.