Clinical characteristics of Danon disease / 中华心血管病杂志

Objective: To review the clinical data of 7 patients with Danon disease and analyze their clinical characteristics. Methods: The medical records of 7 patients with Danon disease, who were hospitalized in Peking Union Medical College Hospital of Chinese Academy of Medical Sciences from April 2008 to July 2021, were reviewed and summarized, of which 6 cases were diagnosed as Danon disease by lysosomal-associated membrane protein-2 (LAMP-2) gene mutation detection and 1 case was diagnosed by clinicopathological features. Clinical manifestations, biochemical indexes, electrocardiogram, echocardiography, skeletal muscle and myocardial biopsy and gene detection results were analyzed, and patients received clinical follow-up after discharge. Results: Six patients were male and average age was (15.4±3.5) years and the average follow-up time was (27.7±17.0) months. The main clinical manifestations were myocardial hypertrophy (6/7), decreased myodynamia (2/7) and poor academic performance (3/7). Electrocardiogram features included pre-excitation syndrome (6/7) and left ventricular hypertrophy (7/7). Echocardiography examination evidenced myocardial hypertrophy (6/7), and left ventricular dilatation and systolic dysfunction during the disease course (1/7). The results of skeletal muscle biopsy in 6 patients were consistent with autophagy vacuolar myopathy. Subendocardial myocardial biopsy was performed in 3 patients, and a large amount of glycogen deposition with autophagosome formation was found in cardiomyocytes. LAMP-2 gene was detected in 6 patients, and missense mutations were found in all these patients. During the follow-up period, implantable cardioverter defibrillator implantation was performed in 1 patient because of high atrioventricular block 4 years after diagnosis, and there was no death or hospitalization for cardiovascular events in the other patients. Conclusion: The main clinical manifestations of Danon disease are cardiomyopathy, myopathy and mental retardation. Pre-excitation syndrome is a common electrocardiographic manifestation. Autophagy vacuoles can be seen in skeletal muscle and myocardial pathological biopsies. LAMP-2 gene mutation analysis is helpful in the diagnose of this disease.

Clinical features and risk factors of left ventricular hypertrophy in children with primary hypertension / 中华儿科杂志

Objective: To assess the clinical features and relative factors of left ventricular hypertrophy (LVH) in children with primary hypertension. Methods: In this retrospective cohort study, 430 children diagnosed with primary hypertension in Children's Hospital, Capital Institute of Pediatrics from January 2019 to September 2022 were enrolled. Their clinical data was analyzed and LVH was assessed by echocardiography. According to left ventricular geometry, these children were assigned to the LVH group and normal geometry group. General conditions, laboratory indicators and ambulatory blood pressure parameters between two groups were compared by independent sample t-test or Mann-Whitney U test. Spearman correlation coefficient was used to analyze the correlation between LVH and clinical indicators including blood pressure, biochemical and metabolic indicators. The independent risk factors of LVH were analyzed by multivariable logistic regression. The receiver operating characteristic (ROC) curve was used to explore the value of risk factors in the diagnosis of LVH. Results: Among the 430 children with primary hypertension, 342 (79.5%) were males and 88 (20.5%) females. Their age was (12.6±2.3) years, and 123 children (28.6%) of them had LVH. Body mass index (BMI) ((30.0±5.2) vs. (26.2±4.3) kg/m2), ratio of stage 2 hypertension (75.6% (93/123) vs. 59.6% (183/307)), 24-hour systolic blood pressure (24 h SBP)((131±10) vs. (128±10) mmHg,1 mmHg=0.133 kPa), daytime systolic blood pressure (SBP) ((135±11) vs. (131±11) mmHg), nighttime SBP ((128±11) vs. (123±10) mmHg), cholesterol level ((4.0±0.7) vs. (3.9±0.7) mmol/L), serum uric acid level ((447±81) vs. (426±91) μmol/L) and incidence of hyperinsulinemia (69.9% (86/123) vs.59.0% (181/307)) were significantly elevated in the LVH group compared with those in the normal geometry group (all P<0.05). There were more patients with a disease course over 5 years in the LVH group than in the normal geometry group, with a statistically significant difference (χ2=8.90,P=0.031). Spearman correlation analysis showed that BMI, 24 h SBP, daytime SBP, nighttime SBP, triglyceride, uric acid, and serum sodium level were positively correlated with LVMI (r=0.43, 0.20, 0.18, 0.18, 0.18, 0.16, and 0.12, all P<0.05). BMI, hyperinsulinemia, and cholesterol level were positively correlated with relative wall thickness (RWT) (r=0.22, 0.12, and 0.16, all P<0.05). The multivariate logistic regression analysis showed that BMI (OR=1.17, 95%CI 1.10-1.25) and 24 h SBP (OR=1.04, 95%CI 1.01-1.08) were the independent risk factors for LVH (both P<0.05). The area under the receiver operator characteristic curve, combined with BMI and 24 h SBP, was 0.72 (95%CI 0.67-0.77, P<0.05), with a sensitivity and specificity of 71.5% and 64.8%, respectively. Conclusions: BMI and 24 h SBP are the independent risk factors for LVH in children with primary hypertension, and the combination of BMI and 24 h SBP has an acceptable diagnostic value for LVH. Early monitoring of these indexes is necessary to predict preclinical cardiac damage.

Analysis of etiology and complications in children with stage 5 chronic kidney disease / 中华儿科杂志

Objective: To investigate the etiology, complications, and prognostic factors of stage 5 chronic kidney disease (CKD5) in children. Methods: A case series study was conducted to retrospectively analyze the general situation, clinical manifestations, laboratory tests, genetic testing, and follow-up data (until October 2022) of 174 children with CKD5 who were diagnosed and hospitalized at the Children's Hospital of Chongqing Medical University from April 2012 to April 2021. The characteristics of complications in the children were compared based on age, gender, and etiology. Based on the presence or absence of left ventricular hypertrophy (LVH), patients were divided into LVH group and non LVH group for analyzing the influencing factors of cardiovascular disease. Patients were also divided into death group and survival group, peritoneal dialysis group and hemodialysis group based on the follow-up data for analyzing the prognostic factors. The chi-square test, independent sample t-test, Fisher exact probability test, Mann-Whitney U test and Kruskal Wallis test were used to analyze data among different groups. Multivariate Logistic regression analysis was used to identify the prognostic factors. Results: A total of 174 children with CKD5 were enrolled in the study (96 boys and 78 girls), aged 11.2 (8.2, 13.0) years. Congenital kidney and urinary tract malformations (CAKUT) were the most common causes of the CKD5 (84 cases, 48.3%), followed by glomerular diseases (83 cases, 47.7%), and among which 28 cases (16.1%) were hereditary glomerular diseases. The common complications of CKD5 included anemia (98.2%, 165/168), mineral and bone disorder in chronic kidney disease (CKD-MBD) (97.7%, 170/174), lipid metabolism disorders (87.5%, 63/72), hypertension (81.4%, 127/156) and LVH (57.6%,57/99). The incidences of hypertension in primary glomerular disease were higher than that in CAKUT(93.8%(30/32) vs.73.7%(56/76),χ2=5.59,P<0.05). The incidences of hypertension in secondary glomerular disease were higher than that in CAKUT and that in hereditary kidney disease (100.0%(20/20) vs. 73.7%(56/76), 68.2%(15/22), both P<0.05). The incidence of hypocalcemia in CAKUT, primary glomerular disease, and hereditary kidney disease was higher than that in secondary glomerular disease (82.1%(69/84), 88.2%(30/34), 89.3%(25/28) vs. 47.6%(10/21), χ2=10.21, 10.75, 10.80, all P=0.001); the incidence of secondary hyperparathyroidism in women was higher than that in men (80.0%(64/80) vs. 95.0%(57/60), χ2=6.58, P=0.010). The incidence of LVH in children aged 6-<12 was higher than that in children aged 12-18 (73.5%(25/34) vs. 43.1%(22/51), χ2=7.62, P=0.006). Among 113 follow-up children, the mortality rate was 39.8% (45/113). Compared to the survival group, the children in the death group had lower hemoglobin, higher blood pressure, lower albumin, lower alkaline phosphatase and higher left ventricular mass index ((67±19) vs. (75±20) g/L, 142 (126, 154) vs. 128(113, 145) mmHg(1 mmHg=0.133 kPa), (91±21) vs. (82±22) mmHg, 32 (26, 41) vs. 40 (31, 43) g/L, 151 (82, 214) vs. 215 (129, 37) U/L, 48 (38, 66) vs. 38(32, 50) g/m2.7,t=2.03, Z=2.89, t=2.70, Z=2.49, 2.79, 2.29,all P<0.05), but no independent risk factors were identified (all P>0.05). The peritoneal dialysis group had better alleviation for anemia, low calcium, and high phosphorus than the hemodialysis group ((87±22) vs. (72±16) g/L, (1.9±0.5) vs. (1.7±0.4) mmol/L, (2.2±0.7) vs. (2.8±0.9) mmol/L, t=2.92, 2.29, 2.82, all P<0.05), and the survival rate of the peritoneal dialysis group was significantly higher than that of the hemodialysis group (77.8% (28/36) vs. 48.4% (30/62), χ2=8.14, P=0.004). Conclusions: CAKUT is the most common etiology in children with CKD 5, and anemia is the most common complication. The incidence of complications in children with CKD 5 varies with age, gender and etiology. Anemia, hypertension, hypoalbuminemia, reduced alkaline phosphatase and elevated LVMI may be the prognostic factors in children with CKD5. Peritoneal dialysis may be more beneficial for improving the long-term survival rate.

Association between serum uric acid and subclinical cardiac damage in children with primary hypertension / 中国当代儿科杂志

OBJECTIVE@#To evaluate the condition of subclinical cardiac damage in children with primary hypertension and the association between serum uric acid and subclinical cardiac damage.@*METHODS@#A retrospective analysis was performed on the medical data of 55 children who were hospitalized and diagnosed with primary hypertension in the Department of Cardiology, Children's Hospital of Soochow University from January 2015 to June 2020. Forty-five healthy children, matched for age and sex, were enrolled as the control group. The two groups were compared in terms of clinical features, laboratory examination, and parameters for left ventricular structure, systolic function, and diastolic function. The correlation of serum uric acid with the parameters for left ventricular structure, systolic function, and diastolic function in children with primary hypertension was analyzed.@*RESULTS@#Compared with the control group, the hypertension group had significantly higher left ventricular mass (LVM), left ventricular mass index (LVMI), and relative wall thickness (RWT) (@*CONCLUSIONS@#Children with primary hypertension may have subclinical cardiac damage such as left ventricular hypertrophy, left ventricular diastolic dysfunction, left atrial enlargement, and proximal aortic dilation. Elevated serum uric acid is significantly associated with cardiac damage in children with primary hypertension.

Avaliação do ventrículo esquerdo em pacientes com DPOC e hipoxemia noturna / Evaluation of the left ventricle in patients with COPD and nocturnal hypoxemia

RESUMO Objetivo Verificar a associação entre massa e espessura do ventrículo esquerdo (VE) e presença de hipoxemia noturna significativa em pacientes portadores de DPOC com hipoxemia diurna leve. Métodos Estudo transversal realizado em pacientes ambulatoriais, clinicamente estáveis, portadores de DPOC e hipoxemia leve (saturação de oxigênio ≥ 90 a ≤ 94%, identificados por oximetria não invasiva) em um centro clínico especializado no atendimento de doenças respiratórias em Goiânia (GO). Todos foram submetidos a avaliação clínica, espirometria, polissonografia, ecocardiografia, gasometria arterial, teste de caminhada de 6 minutos e radiografia de tórax. Resultados Foram avaliados 64 pacientes com DPOC e hipoxemia noturna. Pacientes com hipoxemia noturna significativa apresentaram parâmetros ecocardiográficos associados a mais quantidade de musculatura do VE quando comparados a pacientes com hipoxemia noturna leve. A relação entre volume/massa do VE foi significativamente menor no grupo com hipoxemia noturna significativa (0,64 ± 0,13 versus 0,72 ± 0,12; p = 0,04) e a espessura diastólica do septo interventricular e a espessura diastólica da parede posterior do VE foram significativamente maiores nesse grupo (9,7 ± 0,92 versus 9,1 ± 0,90; p = 0,03) (9,7 ± 1,0 versus 8,9 ± 1,0; p = 0,01). O tempo de sono REM com saturação abaixo de 85% prediz significativamente a espessura do septo (ajuste para índice de massa corporal [IMC], idade e pressão arterial média; r2 = 0,20; p = 0,046). Conclusão Em indivíduos portadores de DPOC e hipoxemia noturna significativa, foi observada associação entre hipoxemia severa no sono REM e parâmetros ecocardiográficos que indicam aumento da massa do VE. Tal fato sugere que esse subgrupo de indivíduos pode se beneficiar de uma avaliação ecocardiográfica do VE.

ABSTRACT Objective To verify association between left ventricular (LV) mass and thickness and the presence of significant nocturnal hypoxemia in patients with COPD with mild diurnal hypoxemia. Methods A cross-sectional study carried out in clinically stable outpatients with COPD and mild hypoxemia (oxygen saturation ≥90 to ≤94%, identified by noninvasive oximetry) in a clinic specialized in the treatment of respiratory diseases in Goiânia-GO. All patients were submitted to clinical evaluation, spirometry, polysomnography, echocardiography, arterial blood gas analysis, 6-minute walk test and chest X-ray. Results Patients with significant nocturnal hypoxemia had echocardiographic parameters associated with increase of LV musculature when compared to patients with mild nocturnal hypoxemia. The LV volume/mass ratio was significantly lower in the group with significant nocturnal hypoxemia (ratio 0.64 ± 0.13 versus 0.72 ± 0.12, p = 0.04), the thickness diastolic diameter of the interventricular septum and the diastolic thickness of the LV posterior wall were significantly higher in this group (9.7 ± 0.92 versus 9.1 ± 0.90 p = 0.03), (9.7 ± 1.0 versus 8.9 ± 1.0, p = 0.01. The time in REM sleep with saturation below 85% significantly predicted septum thickness (adjustment for BMI, age and mean blood pressure, r2 = 0.20; p = 0.046). Conclusion We observed association between severe REM sleep hypoxemia and echocardiographic parameters indicating increased LV mass in individuals with COPD and significant nocturnal hypoxemia. This suggests that this subgroup of individuals may benefit from an echocardiographic evaluation of the left ventricle.

Resistance training attenuates salt overload-induced cardiac remodeling and diastolic dysfunction in normotensive rats

Elevated salt intake induces changes in the extracellular matrix collagen, leading to myocardial stiffness and impaired relaxation. Resistance training (RT) has been used as a remarkably successful strategy in the treatment of heart disease. Therefore, the aim of this study was to investigate the effects of RT on preventing pathological adaptation of the left ventricle (LV) induced by salt overload. Male Wistar rats (10 weeks old) were distributed into four groups (n=8/group): control (CO), control+1% salt (CO+SALT), RT and RT+1% salt (RT+SALT). The RT protocol consisted of 4×12 bouts of squat training, 5/week for 8 weeks, with 80% of one repetition maximum (1RM). Echocardiographs were analyzed and interstitial collagen volume fraction (CVF) was determined in the LV. The 1RM tests in the RT and RT+SALT groups increased 145 and 137%, respectively, compared with the test performed before the training program. LV weight-to-body weight ratio and LV weight-to-tibia length ratio were greater in the RT and RT+SALT groups, respectively, compared with the CO group. Although there was no difference in the systolic function between groups, diastolic function decreased 25% in the CO+SALT group compared with the CO group measured by E/A wave ratio. RT partially prevented this decrease in diastolic function compared with the CO+SALT group. A 1% salt overload increased CVF more than 2.4-fold in the CO+SALT group compared with the CO group and RT prevented this increase. In conclusion, RT prevented interstitial collagen deposition in LV rats subjected to 1% NaCl and attenuated diastolic dysfunction induced by salt overload independent of alterations in blood pressure.

Importance of SERCA2a on early isolated diastolic dysfunction induced by supravalvular aortic stenosis in rats

Cardiac remodeling is defined as changes in shape and function of the heart in response to aggression (pressure overload). The sarcoplasmic reticulum calcium ATPase cardiac isoform 2a (SERCA2a) is a known factor that influences function. A wide spectrum of studies report a decrease in SERCA2a in heart failure, but none evaluate it's the role in early isolated diastolic dysfunction in supravalvular aortic stenosis (AoS). Our hypothesis was that SERCA2a participates in such dysfunction. Thirty-day-old male Wistar rats (60-80 g) were divided into AoS and Sham groups, which were submitted to surgery with or without aorta clipping, respectively. After 6 weeks, the animals were submitted to echocardiogram and functional analysis by isolated papillary muscle (IPM) in basal condition, hypoxia, and SERCA2a blockage with cyclopiazonic acid at calcium concentrations of 0.5, 1.5, and 2.5 mM. Western-blot analyses were used for SERCA2a and phospholamban detection. Data analysis was carried out with Student's t-test and ANOVA. AoS enhanced left atrium and E and A wave ratio, with preserved ejection fraction. Basal condition in IPM showed similar increases in developed tension (DT) and resting tension (RT) in AoS, and hypoxia was similar between groups. After cyclopiazonic acid blockage, final DT was equally decreased and RT was similar between groups, but the speed of relaxation was decreased in the AoS group. Western-blot was uniform in all evaluations. The hypothesis was confirmed, since functional parameters regarding SERCA2a were changed in the AoS group.

Propolis and swimming in the prevention of atherogenesis and left ventricular hypertrophy in hypercholesterolemic mice / Própolis e natação na prevenção da aterogênese e hipertrofia ventricular esquerda de camundongos hipercolesterolêmicos

Aims The present study verified the effect of propolis alone and its association with swimming in dyslipidemia, left ventricular hypertrophy and atherogenesis of hypercholesterolemic mice. Methods and Results The experiments were performed in LDLr–/– mice, fed with high fat diet for 75 days, and were divided into four experimental groups (n=10): HL, sedentary, subjected to aquatic stress (5 min per day, 5 times per week); NAT submitted to a swimming protocol (1 hour per day, 5 times per week) from the 16th day of the experiment; PRO, sedentary, submitted to aquatic stress and which received oral propolis extract (70 uL/animal/day) from the 16th day of the experiment; HL+NAT+PRO, submitted to swimming and which received propolis as described above. After 75 days, blood was collected for analysis of serum lipids. The ratio between the ventricular weight (mg) and the animal weight (g) was calculated. Histological sections of the heart and aorta were processed immunohistochemically with anti-CD40L antibodies to evaluate the inflammatory process; stained with hematoxylin/eosin and picrosirius red to assess morphological and morphometric alterations. The HL animals showed severe dyslipidemia, atherogenesis and left ventricular hypertrophy, associated with a decrease in serum HDLc levels and subsequent development of cardiovascular inflammatory process, characterized by increased expression of CD40L in the left ventricle and aorta. Swimming and propolis alone and/or associated prevented the LVH, atherogenesis and arterial and ventricular inflammation, decreasing the CD40L expression and increasing the HDLc plasmatic levels. Conclusion Propolis alone or associated with a regular physical activity is beneficial in cardiovascular protection through anti-inflammatory action. .

Objetivos O presente estudo verificou o efeito do própolis associação ou não com a natação na dislipidemia, na hipertrofia ventricular esquerda e aterogênese de camundongos hipercolesterolêmicos. Métodos e Resultados Os experimentos foram realizados em camundongos LDLr–/–, alimentados com dieta hiperlipídica por 75 dias, e divididos em quatro grupos experimentais (n = 10): HL, sedentários, foram submetidos ao estresse aquático (5 min por dia, cinco vezes por semana); NAT foram submetidos a um protocolo de natação (1 hora por dia, cinco vezes por semana) a partir do 16° dia do experimento; PRO, sedentários, submetidos a estresse aquático e que receberam extrato de própolis oral (70 uL / animal / dia) a partir do 16° dia do experimento; HL + NAC + PRO, submetidos a natação e que recebeu a própolis, como descrito acima. Após 75 dias, foi coletado sangue para análise do perfil lipídico. Calculou-se a relação entre o peso ventricular (mg) e o peso do animal (g). Os cortes histológicos do coração e aorta foram processados imunohistoquímicamente com anticorpos anti-CD40L para avaliar o processo inflamatório, corados com hematoxilina / eosina e picrossírius red, para avaliar as alterações morfológicas e morfométricas. Os camundongos HL apresentaram dislipidemia grave, aterogênese e hipertrofia do ventrículo esquerdo, associada a uma diminuição dos níveis plasmáticos de HDLc e o desenvolvimento subsequente do processo inflamatório cardiovasculares, caracterizada pelo aumento da expressão do CD40L no ventrículo esquerdo e na aorta. Natação e a própolis isolado e / ou associados preveniram a HVE, a aterogênese e a inflamação tanto na artéria quanto no ventrículo, diminuindo a expressão de CD40L, aumentando os níveis plasmáticos de HDLc. Conclusão A Própolis isolada ou associada a uma atividade física regular é benéfica na proteção cardiovascular através da ação anti-inflamatória. .

Massa ventricular esquerda e índice cardiotorácico em pacientes com doença renal crônica em hemodiálise / Left ventricular mass and cardiothoracic index in patients with chronic renal disease on hemodialysis

Introdução: A hipertrofia ventricular esquerda (HVE) é um fator preditor independente de risco cardiovascular em pacientes com doença renal crônica (DRC) em hemodiálise (HD). Objetivo: Mostrar a utilidade da radiografia de tórax no diagnóstico de HVE em pacientes com DRC em HD. Métodos: Estudo transversal que incluiu 100 pacientes (58 homens e 42 mulheres), idade média de 46,2 ± 14,0 anos, com DRC de todas as etiologias, há pelo menos seis meses em HD. Foram obtidos ecocardiograma e radiografia de tórax dos pacientes, sempre até uma hora após o término das sessões de HD. Resultados: A HVE foi detectada em 83 pacientes (83%), dos quais 56 (67,4%) apresentavam o padrão concêntrico e 27 (32,6%) a padrão excêntrico de HVE. Cardiomegalia - definida por índice cardiotorácico (ICT) > 0,5 - esteve presente em 61 pacientes (61%). Foram os seguintes os valores de sensibilidade, especificidade e acurácia, respectivamente, para a variável ICT: 66,2%, 70,5% e 68,0%. A correlação de Pearson entre ICT e índice de massa do ventrículo esquerdo (IMVE) foi de 0,552 (p < 0,05) e razão de verossimilhança positivo de 2,2. Conclusão: A radiografia de tórax é um exame seguro e útil como ferramenta diagnóstica de HVE em pacientes com DRC em HD. .

Introduction: Left ventricular hypertrophy (LVH) is an independent predictor of cardiovascular risk in patients with chronic renal disease (CRD) on hemodialysis (HD). Objective: To show the usefulness of chest radiography in the diagnosis of LVH in CRD patients on HD. Methods: Cross-sectional study including 100 patients (58 men and 42 women), mean age 46.2 ± 14.0 years, with CRD of all causes, for at least six months on HD. Were obtained echocardiogram and chest x-rays of patients, always up to one hour after the end of HD sessions. Results: LVH was detected in 83 patients (83%), of whom 56 (67.4%) had the concentric pattern and 27 (32.6%) with eccentric pattern of LVH. Cardiomegaly - defined by cardiothoracic index (CTI) > 0.5 - was present in 61 patients (61%). The following were the sensitivity, specificity and accuracy, respectively, for the variable ICT: 66.2%, 70.5% and 68.0%. The Pearson correlation between ICT and index of left ventricular mass (LVMI) was 0.552 (p < 0.05) and positive likelihood ratio of 2.2. Conclusion: Chest radiography is a safe and useful as a diagnostic tool of LVH in CKD patients on HD. .

Aneurisma idiopático do ventrículo esquerdo / Idiopatic left ventricle aneurysm / Aneurisma Idiopático del Ventrículo Izquierdo

El aneurisma idiopático del ventrículo izquierdo es una entidad clínica poco común y raramente descrita en la literatura que usualmente se origina en la región anular subaórtica o submitral, y su etiología no isquémica permanece poco establecida. Esta patología puede tener diferentes presentaciones clínicas desde regurgitación mitral e insuficiencia cardíaca, hasta arritmias ventriculares potencialmente fatales y muerte súbita. Aunque la gran mayoría de casos inicialmente fueron descritos en población de raza negra, se ha descrito también en población caucásica en menor incidencia. En la actualidad, el uso de multimodalidad de imágenes permite un mejor tamizaje y caracterización de las lesiones. A continuación se presenta un reporte de caso en una paciente sin evidencia de enfermedad coronaria conocida, y presencia en imágenes de ecocardiografía y resonancia magnética cardíaca de lesión aneurismática subvalvular mitral idiopática con compromiso funcional de la válvula mitral, y en la cual se descartaron otras causas etiológicas, siendo llevada a corrección quirúrgica con una adecuada evolución posterior al procedimiento. El diagnóstico fue confirmado con examen histopatológico, estudio de serología y perfil inmunológico...

Idiopathic left ventricle aneurysm is an uncommon clinical entity and seldom described in literature which usually originates in the annular subaortic or sub-mitral region, and its non ischemic etiology remains unknown. This pathology may have different clinical presentations ranging from mitral regurgitation and heart failure to ventricular arrhythmias potentially fatal as well as sudden death. Even though the vast majority of cases were described among black population, it has also been described among Caucasian population with lower incidence though. At present, the use of multimodality images allows for better screening and characterization of the lesions. Hereinafter is presented a case report of a patient without evidence of known coronary heart disease, and presence in echocardiography and cardiac magnetic resonance imaging of aneurysmal idiopathic mitral subvalvular injury compromising the functioning of mitral valve, discarding other etiologic causes, the surgical correction being concluded with an adequate evolution after the procedure. The diagnosis was confirmed by histopathological examination, serology and immune profile study...

O aneurisma idiopático do ventrículo esquerdo é uma entidade clínica pouco comum e raramente descrita na literatura que usualmente se origina na região anular sub-aórtica ou sub-mitral, e sua etiologia não isquêmica permanece pouco estabelecida. Esta patologia pode ter diferentes apresentações clínicas desde regurgitação mitral e insuficiência cardíaca, até arritmias ventriculares potencialmente fatais e morte súbita. Embora a grande maioria de casos inicialmente fosse descrita em população de raça negra, se tem descrito também em população caucasiana em menor incidência. Na atualidade, o uso de multi-modalidade de imagens permite uma melhor triagem e caracterização das lesões. A seguir é apresentado caso em uma paciente sem evidência de doença coronariana conhecida, e presença em imagens de ecocardiografia e ressonância magnética cardíaca de lesão aneurismática sub-valvular mitral idiopática com comprometimento funcional da válvula mitral, e na qual se descartaram outras causas etiológicas, sendo feita a correção cirúrgica com uma adequada evolução posterior ao procedimento. O diagnóstico foi confirmado com exame histopatológico, estudo de sorologia e perfil imunológico...

Patterns of left ventricular remodeling among patients with essential and secondary hypertension / Patrones de remodelación ventricular en pacientes con hipertensión arterial primaria y secundaria

Background: High blood pressure causes left ventricular hypertrophy, which is a negative prognostic factor among hypertensive patients. Aim: To assess left ventricular geometric remodeling patterns in patients with essential hypertension or with hypertension secondary to parenchymal renal disease. Material and Methods: We analyzed data from echocardiograms performed in 250patients with essential hypertension (150 females) and 100 patients with secondary hypertension (60 females). The interventricular septum and the left ventricular posterior wall thickness were measured in the parasternal long-axis. Left ventricular mass was calculated using the Devereaux formula. Results: The most common remodeling type in females and males with essential hypertension were eccentric and concentric left ventricular hypertrophy (cLVH), respectively. Among patients with secondary arterial hypertension, cLVH was most commonly observed in both genders. The prevalence of left ventricular hypertrophy was higher among patients with secondary hypertension. The left ventricular mass index and the relative left ventricular wall thickness were higher in males and also in the secondary hypertension group. Age, blood pressure values and the duration of hypertension, influenced remodeling patterns. Conclusions: We documented a higher prevalence of LVH among patients with secondary hypertension. The type of ventricular remodeling depends on gender, age, type of hypertension, blood pressure values and the duration of hypertension.

Antecedentes: La hipertensión arterial causa hipertrofia ventricular izquierda, un factor de mal pronóstico en pacientes hipertensos. Objetivo: Evaluar patrones de remodelación ventricular en pacientes con hipertensión arterial esencial y secundaria a daño renal. Material y Métodos: Análisis de ecocardiogramas efectuados a 250 pacientes con hipertensión arterial primaria (150 mujeres) y 100 pacientes con hipertensión secundaria (60 mujeres). Se midió el grosor del septum interventricular y de la pared ventricular posterior. La masa ventricular izquierda se calculó usando la fórmula de Devereaux. Resultados: Los tipos más frecuentes de remodelación ventricular en mujeres y hombres con hipertensión esencial fueron la hipertrofia ventricular excéntrica y concéntrica, respectivamente. En pacientes con hipertensión arterial secundaria, la hipertrofia concéntrica fue más frecuente. La prevalencia de hipertrofia ventricular izquierda fue más alta en pacientes con hipertensión secundaria. El índice de masa ventricular izquierda y el grosor relativo de la pared ventricular izquierda fueron mayores en pacientes con hipertensión secundaria. La edad, los valores de presión arterial y la duración de la hipertensión influyeron en los patrones de remodelación. Conclusiones: Documentamos una mayor prevalencia de hipertrofia ventricular izquierda en pacientes con hipertensión secundaria. El tipo de remodelación depende de la edad, género, tipo de hipertensión, valores de presión arterial y duración de la hipertensión.

Arritmias ventriculares e hipertrofia ventricular esquerda na cardiomiopatia hipertrófica / Ventricular arrhythmias and left ventricular hypertrophy in hypertrophic cardiomyopathy

FUNDAMENTO: Na Cardiomiopatia Hipertrófica (CMH), o grau de Hipertrofia Ventricular Esquerda (HVE) poderia influenciar o desenvolvimento de arritmias ventriculares. OBJETIVO: Analisar, na CMH, a associação entre a ocorrência de arritmias ventriculares no eletrocardiograma-Holter (ECG-Holter) e o grau de HVE determinado ao ecocardiograma pela espessura parietal máxima (EPM) e Índice de Massa (IM). MÉTODOS: Cinquenta e quatro pacientes consecutivos com CMH realizaram ECG-Holter de 24 horas e ecocardiograma para avaliação do grau de HVE através da EPM e IM. Foram estabelecidos dois níveis para a ocorrência de arritmias ventriculares: I - extrassístoles isoladas ou pareadas e II - Taquicardia Ventricular Não Sustentada (TVNS). RESULTADOS: Nos 13 pacientes (24%) com TVNS (nível II), houve maior frequência de EPM do ventrículo esquerdo (VE) > 21 mm (n = 10, 77%; 25 ± 4 mm) e IMVE > 144 g/m² (n = 10, 77%; 200 ± 30 g/m²), em relação àqueles que apresentavam apenas arritmia extrassistólica (nível I) (n = 41, 76%), em que essas medidas foram identificadas em, respectivamente, 37% (n = 15, 23 ± 1 mm), p = 0,023, e 39% (n = 16, 192 ± 53 g/m²) dos casos, p = 0,026. Os citados valores de corte foram determinados por curva ROC com intervalo de confiança de 95%. O registro de TVNS foi mais comum em pacientes com EPMVE > 21 mm e IMVE > 144 g/m² (8 de 13; 62%), do que naqueles com uma (4 de 13; 31%) ou nenhuma (1 de 13; 8%) variável ecocardiográfica acima dos valores de corte, p = 0,04. CONCLUSÃO: A ocorrência de arritmias ventriculares no Holter associou-se, na CMH, ao grau de HVE, avaliado pelo ecocardiograma através da respectiva EPM e IM.

BACKGROUND: In hypertrophic cardiomyopathy (HCM), the degree of left ventricular hypertrophy (LVH) could influence the development of ventricular arrhythmias. OBJECTIVE: In HCM, analyze the association between the occurrence of ventricular arrhythmias determined by Holter electrocardiogram (ECG-Holter) and the degree of LVH determined by maximum wall thickness (MWT) in echocardiography and body mass index (BMI). METHODS: Fifty-four consecutive patients with HCM underwent 24-hour ECG-Holter and echocardiography for assessment of level of LVH through MWT and BMI. Two levels were established for the occurrence of Ventricular Arrhythmias: I - alone or paired extrasystoles and II - Non- Sustained Ventricular Tachycardia (NSVT). RESULTS: In 13 patients (24%) with NSVT (level II), there was a higher frequency of MWT of the left ventricle (LV) > 21 mm (n = 10, 77%, 25 ± 4 mm) and LLLV = 144 g/m² (n = 10, 77%, 200 ± 30 g/m²), in comparison with those presenting with extrasystole arrhythmias (level I) (n = 41, 76%), in which these measures were identified in, respectively, 37 % (n= 15, 23 ± 1 mm), p = 0.023, and 39% (n = 16, 192 ± 53 g / m²) of the cases (p = 0.026). The cut-off values mentioned were determined by the ROC curve with a confidence interval of 95%. NSVT was more common in patients with MWTLV > 21 mm and LLLV > 144 g/m² (8 of 13, 62%) than in those with (4 of 13, 31%) or without (1 of 13; 8%) echocardiographic variables above cut-off values (p = 0.04). CONCLUSION: In HCM, occurrence of ventricular arrhythmias by Holter was associated with the degree of LVH assessed by echocardiography through MWT and BMI.

Asociación de los niveles de glucemia con la hipertrofia miocárdica / Association between plasma glucose concentrations and myocardial hypertrophy

La aparición de hipertrofia cardíaca está mediada tanto por factores hemodinámicos como por factores no hemodinámicos. En este sentido, se ha descrito una relación positiva y significativa entre la masa ventricular izquierda (MVI) y la hemoglobina A1c en la hipertensión esencial. Además, los individuos hipertensos con diabetes tienen una mayor MVI que los pacientes no diabéticos hipertensos, pese a tener cifras de presión arterial similares. También se ha descrito que una mejora del control glucémico contribuye a la regresión de la hipertrofia ventricular izquierda en pacientes hipertensos con diabetes tipo 2, y que estos cambios se produjeron de forma independiente de la variación de la presión arterial. Por último, se ha publicado recientemente que “la efectividad de la glucosa” (que representa la capacidad de la glucosa para llevar a cabo por sí misma su propia desaparición en plasma, con independencia de los cambios dinámicos de la insulina basal) está fuertemente relacionada con la MVI en pacientes con hipertensión estadio 1 o con cifras de presión arterial normal-alta.

Frecuencia y factores de riesgo de la hipertrofia ventricular izquierda como marcador de daño cardiovascular en el trasplante renal / Frequency and risk factors of the left ventricular hypertrophy like scoreboard of cardiovascular damage in renal transplant

Introducción: las complicaciones cardiovasculares son frecuentes y constituyen la principal causa de muerte en los pacientes con trasplantes renales, su alta incidencia está dada por múltiples factores de riesgo. Objetivos: determinar la frecuencia de la hipertrofia del ventrículo izquierdo como marcador de daño cardiovascular, y los factores de riesgo que facilitarían su aparición. Métodos: se hizo un estudio prospectivo, de corte transversal y de tipo casos y controles, a 70 enfermos con trasplantes renales a los cuales se les realizó un ecocardiograma convencional para determinar la presencia o no de hipertrofia del ventrículo izquierdo y se relacionó, mediante un estudio univariado y multivariado (regresión logística), con factores de riesgo cardiovascular. Resultados: las afecciones cardiovasculares constituyeron la segunda causa de pérdida de los pacientes en este estudio (33,1 porciento), La hipertrofia del ventrículo izquierdo se encontró en 45 (64 porciento) de los enfermos pesquisados. La dislipemia, el uso de la ciclosporina A y la disfunción del injerto, fueron las complicaciones que constituyeron, tanto en el estudio univariado como multivariado (factor independiente), p < 0,05, condicionales que favorecieron la existencia de hipertrofia del ventrículo izquierdo, aseveraciones estas que constituyen las conclusiones de la investigación...

Introduction: the cardiovascular complications are frequent and are the leading cause of death in patients underwent renal transplantation and its high incidence is due to multiple risk factors. Objectives: to determine the frequency of the left ventricle hypertrophy as a marker of cardiovascular damage and the risk factors leading to its appearance. Methods: a case-control, cross-sectional and prospective study was conducted in 70 patients with renal transplantations and underwent a conventional echocardiogram to determine the presence or not of left ventricle hypertrophy and it was related to cardiovascular risk factors by means of a univariate and multivariate study (logistic regression) with cardiovascular risk factors. Results: the cardiovascular affections were the second cause of loss of patients in present study (33,1 porciento). The left ventricle hypertrophy was found in the 45 (64 porceinto) of screened patients. The dyslipidemia, the use of A cyclosporine and the graft dysfunction, were the complications in the univariate and the multivariate study (independent factor) , p < 0,05, the conditional favoring the existence of left ventricle hypertrophy, assertions that are the research conclusions...

Hipertrofia cardíaca esquerda e direita em necropsias de hipertensos / Left and right ventricular hypertrophy at autopsy of hypertensive individuals

OBJETIVO: Medir a espessura ventricular direita e esquerda em falecidos com história de hipertensão arterial, submetidos a necropsias clínicas. MÉTODOS: Foram selecionados 90 casos do Serviço de Verificação de Óbitos de Recife -PE, de ambos os sexos, com história de hipertensão arterial essencial, com relação à espessura das paredes cardíacas, além da correlação com outros achados de necropsia e informes clínicos. RESULTADOS: Observouse associação significativa entre a presença de hipertrofia ventricular esquerda (HVE) e direita (HVD), e de cardiopatia hipertensiva grave e HVD. Houve predomínio da HVD e HVE em homens, na faixa etária dos 60-79 anos, com maior prevalência nas etnias parda e negra, e naqueles com estado nutricional adequado ou com sobrepeso e em obesos. CONCLUSÃO: Observou-se que a presença de HVD relaciona-se com HVE, sugerindo que há fatores patogênicos semelhantes envolvidos no desenvolvimento da hipertrofia bilateral. A HVD parece associar-se à doença cardíaca mais grave, podendo, a partir de outros estudos, ser considerada novo fator prognóstico na avaliação dos pacientes hipertensos.

OBJECTIVE: To measure the right and left ventricular thickness in deceased individuals with a history of hypertension submitted to clinical autopsies. METHODS: We selected 90 cases from the Death Verification Service of the city of Recife, state of Pernambuco, Brazil, of both sexes, with a history of essential arterial hypertension related to heart wall thickness, in addition to correlation with autopsy findings and other clinical reports. RESULTS: There was a significant association between the presence of left ventricular hypertrophy (LVH) and right ventricular hypertrophy (RVH) and between severe hypertensive cardiomyopathy and RVH. There was a predominance of RVH and LVH in men aged 60-79 years and a higher prevalence in the Brazilian mulatto and Black ethnic groups and in those with adequate nutritional status or overweight and obese individuals. CONCLUSION: It was observed that the presence of RVH was related to LVH, suggesting that there are similar pathogenic factors involved in the development of bilateral hypertrophy. The RVH seems to be associated with more severe heart disease and may, based on other studies, be considered as a new prognostic factor in the evaluation of hypertensive patients.

Índice tornozelo-braquial e hipertrofia ventricular na hipertensão arterial / Ankle-brachial index and ventricular hypertrophy in arterial hypertension / Índice tobillo-braquial y hipertrofia ventricular en la hipertensión arterial

O Índice Tornozelo-Braquial (ITB) é marcador de doença arterial obstrutiva periférica. Raros relatos correlacionam esse índice com hipertrofia ventricular esquerda (HVE), capacidade funcional (CF) e escore de risco coronariano de Framingham (ERCF). O objetivo do trabalho foi verificar a correlação entre ITB, HVE, CF e ERCF em homens com hipertensão arterial (HA). Estudo prospectivo e transversal de pacientes do sexo masculino (n = 40), com idade média de 57,92 ± 7,61 anos, sem complicações cardiovasculares. Essa população foi submetida às medidas de ITB, ecocardiograma (ECO), teste ergométrico (TE) e exames laboratoriais. O ITB (direito e esquerdo) foi considerado anormal quando a relação entre a maior média das pressões sistólicas dos tornozelos e dos braços foi inferior ou igual a 0,9 ou superior a 1,3 mmHg. A HVE foi identificada pelo ECO transtorácico; e a CF, pelo TE. Amostras sanguíneas periféricas foram colhidas para o cálculo do ERCF. Valores normais de ITB foram encontrados em 33 pacientes (82,5 por cento), os quais foram incluídos no Grupo I; sete pacientes (17,5 por cento) com ITB anormal constituíram o Grupo II. Os índices de massa do índice de massa do ventrículo esquerdo (IMVE) ao ECO foram de 111,18 ± 34,34 g/m² (Grupo I) e de 150,29 ± 34,06 g/m2 (Grupo II) (p = 0,009). A prevalência de HVE foi de 4 por cento (Grupo I) e de 35,3 por cento (Grupo II) (p = 0,01), constatando-se diferenças significativas entre os grupos. Quanto à CF no TE, não se registrou diferença entre os grupos. Em relação ao ERCF, a média do Grupo I foi inferior à média do Grupo II: 13,18 ± 2,11 versus 15,28±1,79 (p = 0,019). Em HA, a presença de HVE definida pelo IMVE esteve mais presente nos casos com ITB anormal, identificando maior risco cardiovascular.

The ankle-brachial index (ABI) is a marker of peripheral arterial disease. Very few reports have correlated this index with left ventricular hypertrophy (LVH), functional capacity (FC) and Framingham risk score (FRS). The objective of this study was to verify the correlation between ABI, LVH, FC and FRS in men with arterial hypertension (AH). Prospective and cross-sectional study of male patients (n = 40) with a mean age of 57.92 ± 7.61 years and no cardiovascular complications. This population was submitted to ABI measurements, echocardiography (ECHO), exercise test (ET) and laboratory tests. The ABI (right and left) was considered abnormal when the ratio between the highest mean systolic pressures of the ankles and arms was 0.9 or higher than 1.3 mmHg. LVH was identified by transthoracic ECHO and the FC by the ET. Peripheral blood samples were collected to calculate the FRS. Normal ABI values were observed in 33 patients (82.5 percent), who were included in Group I; seven patients (17.5 percent) with abnormal ABI constituted Group II. Left ventricular mass index (LVMI) at the ECO were 111.18 ± 34.34 g/m2 (Group I) and 150.29 ± 34.06 g/m² (Group II) (p = 0.009). The prevalence of LVH was 4 percent (Group I) and 35.3 percent (Group II) (p = 0.01), demonstrating a significant difference between the groups. As for the FC in ET, there was no difference between the groups. Regarding the FRS, the mean in Group I was below that in Group II: 13.18 ± 2.11 versus 15.28 ± 1.79 (p = 0.019). In hypertensive patients, the presence of LVH defined by the LVMI was more frequent in cases with abnormal ABI, identifying a higher cardiovascular risk.

El Índice Tobillo-Braquial (ITB) es un marcador de enfermedad arterial obstructiva periférica. Raros relatos correlacionan ese índice con la hipertrofia ventricular izquierda (HVI), capacidad funcional (CF) y puntación de riesgo coronario de Framingham (PRCF). El objetivo de este estudio fue verificar la correlación entre ITB, HVI, CF y PRCF en hombres con hipertensión arterial (HA). Estudio prospectivo y transversal de pacientes del sexo masculino (n = 40), con edad promedio de 57,92 ± 7,61 años, sin complicaciones cardiovasculares. Esa población fue sometida a las medidas de ITB, ecocardiograma (ECO), test ergométrico (TE) y exámenes de laboratorio. El ITB (derecho e izquierdo), se consideró anormal cuando la relación entre la mayor media de las presiones sistólicas de los tobillos y de los brazos fue inferior o igual a 0,9 o superior a 1,3 mmHg. La HVI fue identificada por el ECO transtorácico; y la CF por el TE. Muestras sanguíneas periféricas se recogieron para el cálculo del PRCF. Valores normales de ITB fueron encontrados en 33 pacientes (82,5 por ciento), los cuales se incluyeron en el Grupo I; siete pacientes (17,5 por ciento) con ITB anormal formaron el Grupo II. Los índices de masa del índice de masa del ventrículo izquierdo (IMVI) al ECO fueron de 111,18 ± 34,34 g/m² (Grupo I) y de 150,29 ± 34,06 g/m² (Grupo II) (p = 0,009). La prevalencia de HVI fue de 4 por ciento (Grupo I) y de 35,3 por ciento (Grupo II) (p = 0,01), siendo comprobadas las diferencias significativas entre los grupos. En cuanto a la CF en el TE, no se registró ninguna diferencia entre los grupos. Con relación al PRCF, el promedio del Grupo I quedó por debajo del promedio del Grupo II: 13,18 ± 2,11 versus 15,28±1,79 (p = 0,019). En HA, la presencia de HVI definida por el IMVI estuvo más presente en los casos con ITB anormal, identificando un mayor riesgo cardiovascular.

Impacto da hipertensão arterial no remodelamento ventricular, em pacientes com estenose aórtica / Impact of hypertension on ventricular remodeling in patients with aortic stenosis

FUNDAMENTO: A hipertrofia ventricular esquerda (HVE) é comum em pacientes com hipertensão arterial sistêmica (HAS) e estenose aórtica (EAo) e, com certa frequência, encontramos associação entre estas patologias. Mas, em tal situação, não está clara a importância de cada uma na HVE. OBJETIVO: 1 - Avaliar em pacientes portadores de EAo, submetidos previamente a estudo ecocardiográfico, a magnitude da HVE, nos casos de EAo isolada e associada à HAS; 2 - Avaliar o padrão de remodelamento geométrico nas duas situações. MÉTODOS: Estudo retrospectivo, observacional e transversal, incluindo 298 pacientes consecutivos, com EAo ao ecocardiograma. HVE foi considerada para massa miocárdica > 224g em homens e > 162g em mulheres. Os pacientes foram classificados como portadores de EAo leve (gradiente máximo < 30,0 mmHg), moderada (entre 30 e 50,0 mmHg) e grave (> 50,0 mmHg), além disso, foram separados em dois subgrupos: com e sem HAS. RESULTADOS: Nos três níveis de lesão aórtica, a massa ventricular esquerda foi maior na EAo associada à HAS do que na EAo isolada (EAo leve: 172 ± 45 vs 223 ± 73g, p < 0,0001; EAo moderada: 189 ± 77 vs 245 ± 81g, p = 0,0313; EAo grave: 200 ± 62 vs 252 ± 88g, p = 0,0372). Presença de HAS esteve associada a maior risco de HVE (OR = 2,1,IC95 por cento:1,2-3,6; p = 0,012). Pacientes com EAo grave e HAS apresentaram predomínio de hipertrofia concêntrica, quando comparados com aqueles normotensos (p = 0,013). CONCLUSÃO: Em pacientes com EAo, a presença de HAS foi um fator adicional de aumento da massa ventricular esquerda, interferindo também na geometria ventricular.

BACKGROUND: Left ventricular hypertrophy (LVH) is a marker of increased cardiovascular risk and is frequently associated with both arterial hypertension (AH) and aortic stenosis (AoS). Also, these two maladies may co-exit in a same patient. However, in these cases, it is not clear the impact of each one in LVH. OBJECTIVE: To evaluate LVH and ventricular geometry in patients with AS associated or not with arterial hypertension. METHODS: This was a retrospective, observational and transversal study, including 298 consecutive patients with echocardiographic diagnosis of AoS. LVH was defined as myocardial mass > 224g for men and > 162g for women. Patients were classified as having mild (peak gradient < 30 mmHg), moderate (between 30 and 50 mmHg) or severe (> 50 mmHg) AoS and separated into two subgroups: with and without hypertension. RESULTS: AH was associated with increased ventricular mass in all three levels of aortic stenosis (mild AS: 172 ± 45g vs 223 ± 73g, p < 0.0001 moderate AoS: 189 ± 77 g vs 245 ± 81g, p = 0.0313 severe AoS: 200 ± 62g vs 252 ± 88g, p = 0.0372), and increased risk of LVH (OR = 2.1 CI95 percent:1.2-3.6 p = 0.012). Regarding to geometric remodeling, hypertensive patients with severe AS presented a significant increase in frequency of concentric hypertrophy, when compared with those without hypertension (p = 0.013). CONCLUSION: Hypertension is an additional factor of increased left ventricular mass in patients with AS. Also, hypertension was influential in ventricular geometry.