Analysis of PKP2 gene variants in a child with Arrhythmogenic right ventricular cardiomyopathy / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of a child with Arrhythmogenic right ventricular cardiomyopathy (ARVC).@*METHODS@#A 6-year-old boy with ARVC who had visited Fujian Provincial Children's Hospital on August 23, 2022 was selected as the study subject. Relevant clinical data were collected, and peripheral venous blood samples were collected from the child and his parents for genetic testing through whole exome sequencing (WES). Sanger sequencing was carried out for family verification, and pathogenicity analysis was conducted for the candidate variants.@*RESULTS@#The child had exhibited clinical symptoms including systemic edema, generalized heart enlargement, universal reduction of interventricular septum and ventricular wall movement, reduced left ventricular diastolic and systolic function, and reduced right ventricular systolic function. WES revealed that the child has harbored compound heterozygous variants of the PKP2 gene, namely c.119_122del (p.Leu40ArgfsTer71) and c.1978G>A (p.Gly660Arg), which were verified by Sanger sequencing to be respectively inherited from his father and mother. The c.119_122del variant has not been recorded in the 1000 Genomes, gnomAD and ExAC databases, and was predicted to lead to truncation of the PKP2 protein by SWISS-MODEL and PyMOL online software and classified as likely pathogenic based on the guidelines jointly developed by the American College of Medical Genetics and Genomics (ACMG) and ClinGen. The c.1978G>A variant has also not been recorded in the 1000 Genomes, gnomAD and ExAC databases, and was predicted to be deleterious by online software including REVEL, SIFT, CADD, Mutation Taster, and PolyPhen-2. The amino acid encoded by the variant site was highly conserved among various species by analysis using T-coffee and ESPript v3.0 online servers. The variant may affect the protein function by SWISS-MODEL and PyMOL online server analysis, and was classified as likely pathogenic based on the guidelines jointly developed by the ACMG and ClinGen.@*CONCLUSION@#The compound heterozygous variants of c.119_122del (p.Leu40ArgfsTer71) and c.1978G>A (p.Gly660Arg) of the PKP2 gene probably underlay the ARVC in this child. Above finding has broadened the spectrum of PKP2 gene variants and provided a reference for the diagnosis and genetic counseling.

Genetic analysis of a child with restricted cardiomyopathy and phenylketonuria and a literature review / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic characteristics of a child with restricted cardiomyopathy (RCM) and phenylketonuria (PKU), and summarize the clinical characteristics and genetic diversity of RCM in children through a literature review.@*METHODS@#A child with RCM in conjunct with PKU who was admitted to the Children's Hospital Affiliated to Zhengzhou University in June 2020 due to edema of eyelids and lower limbs for 1 year and aggravation for over 1 month was selected as the study subject. Relevant clinical data were collected. Peripheral blood samples of the child and his parents were collected for whole exome sequencing (WES). Candidate variants were validated by Sanger sequencing and bioinformatic analysis. Childhood, TNNI3 gene and restricted cardiomyopathy were used as the keywords to search the Wanfang data knowledge service platform, Chinese Journal Full-text database and PubMed database, and the search period was limited to from the time of establishment till August 2022. Clinical manifestations and characteristics of the TNNI3 gene variants were summarized.@*RESULTS@#The child, a 2-year-old-and-4-month-old male, had normal intelligence, facial features and normal hair and skin color, but his motor and physical development was delayed, in addition with edema of bilateral eyelids and lower limbs. The results of WES and Sanger sequencing revealed that he has harbored compound heterozygous variants of the PAH gene, namely c.331C>T (p.R111X) and c.940C>A (p.P341T), which were inherited from his father and mother, respectively. In addition, he has also harbored a de novo heterozygous variant of c.508C>T (p.R170W) of the TNNI3 gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the TNNI3: c.508C>T (p.R170W) was classified as a pathogenic variant (PS2+PS4+PM2_Supporting+PM5), PAH: c.331C>T (p.R111X) as a pathogenic variant (PVS1+PM2_Supporting+PM3+PP4), and c.940C>A (p.P341T) as a likely pathogenic variant (PM2_Supporting+PM3+PM5+PP4). In total 30 children with RCM caused by TNNI3 gene variants were retrieved, with a male-to-female ratio of 1 : 1.55 and manifestations including heart failure, sinus rhythm, bi-atrial enlargement, ST-T wave change, ventricular restricted filling, and decreased ventricular diastolic function. In total 16 variants of the TNNI3 gene were identified, among which c.575G>A was the most common, and all cases had conformed to an autosomal dominant inheritance.@*CONCLUSION@#Phenylalanine hydroxylase deficiency and RCM are rare diseases with complex clinical manifestations. The PAH: c.331C>T (p.R111X)/c.940C>A (p.P341T) and TNNI3: c.508C>T (p.R170W) variants probably underlay the RCM and PKU in this child.

Correlation between left atrial strain and left ventricular diastolic function in hypertensive patients / 中南大学学报(医学版)

OBJECTIVES@#Early detection of asymptomatic diastolic dysfunction is essential to prevent the development of heart failure in hypertensive patients. Current studies suggest that left atrial strain contributes to the evaluation of left ventricular diastolic function, but there are fewer studies on the correlation between left atrial strain and diastolic function in hypertensive patients. In this study, we applied a two-dimensional speckle tracking technique to evaluate the changes in left atrial strain in hypertensive patients, and to investigate the relationship between left atrial strain and left ventricular diastolic function.@*METHODS@#A total of 82 hypertensive patients who were visited the Department of Cardiology at the Third Xiangya Hospital of Central South University from July 2021 to January 2022, were enrolled for this study, and 59 healthy subjects served as a control group. According to the number of left ventricular diastolic function indexes recommended by the 2016 American Society of Echocardiography Diastolic Function Guidelines (mitral annular e´ velocity: Septal e´<7 cm/s, lateral e´<10 cm/s, E/e´ ratio>14, left atrial volume index>34 mL/m2, peak tricuspid regurgitation velocity>2.8 m/s), the hypertensive patients were divided into 3 groups: Group Ⅰ (0 index, n=36 ), Group Ⅱ (1 index, n=39), and Group Ⅲ (2 indexes, n=7). Two-dimensional speckle tracking technique was used to measure left atrial reservoir strain (LASr), conduit strain, and contraction strain, and to analyze the correlation between left atrial strain and left ventricular diastolic function in hypertensive patients.@*RESULTS@#The LASr, left atrial conduit strain (LAScd), and LASr/(E/septal e´) of the hypertension group were lower than those of the control group, and E/LASr was higher than that of the control group. There was no significant difference in left atrium volume index between the 2 groups (P>0.05). Compared with Group Ⅰ, LASr, LAScd, and LASr/(E/septal e´) were decreased in Group Ⅱ and Group Ⅲ, LASr/(E/septal e´) was also decreased in Group Ⅲ compared with Group Ⅱ (all P<0.05). Compared with Group Ⅰ, E/LASr was increased in Group Ⅲ. LASr was positively correlated with septal e´, lateral e´, E, and E/A, and negatively correlated with E/septal e´.@*CONCLUSIONS@#The changes of left atrial function in patients with early hypertension are earlier than those of left atrial structure. Left atrial strain and its combination with conventional ultrasonographic indices [LASr/(E/septal e´)] of diastolic function are potentially useful in assessing left ventricular diastolic function in hypertensive patients.

Effect of a delay mode of a ventricular assist device on hemodynamics of the cardiovascular system / 生物医学工程学杂志

The implantation of biventricular assist device (BiVAD) is more challenging than that of left ventricular assist device for the interaction in the process of multiple input and output. Besides, ventricular assist device (VAD) often runs in constant speed (CS) mode in clinical use and thus BiVAD also faces the problems of low pulsation and imbalance of blood volume between systemic circulation and pulmonary circulation. In this paper, a delay assist mode for a VAD by shortening the support time of VAD was put forward. Then, the effect of the delay mode on cardiac output, pulsation and the function of the aortic valve was observed by numerical method and the rules of hemodynamics were revealed. The research showed that compared with VAD supported in CS mode, the VAD using delay mode in systolic and diastolic period proposed in this paper could meet the demand of cardiac output perfusion and restore the function of the arterial valves. The open ratio of aortic valve (AV) and pulmonary valve (PV) increased with the time set in delay mode, and the blood through the AV/PV helped to balance the left and the right cardiac volume. Besides, delay mode also improved the pulsation index of arterial blood flow, which is conducive to the recovery of the ventricular pulse function of patients.

Cardiomiopatía en el paciente con cirrosis hepática: artículo de revisión / Cardiomyopathy in patients with liver cirrhosis: review article

La cardiomiopatía cirrótica se trata de una complicación en el paciente cirrótico, con una pre- valencia superior al 40%. Es una entidad subclínica, pero ante el ejercicio o estrés circulatorio, desencadena su sintomatología. Su fisiopatología se explica por la hipertensión portal que lleva a vasodilatación esplácnica, con posterior liberación de vasodilatadores y factores cardiosupresores, lo cual conduce a una circulación hiperdinámica y disfunción circulatoria, con elevación del gasto cardíaco, disminución de la resistencia vascular y presión arterial baja. Sus características principales son disfunción cardiaca sistólica y diastólica, circulación hiperdinámica y alteraciones electrofisiológicas, especialmente prolongación del intervalo QT. Para su diagnóstico se usa la ecocardiografía y pruebas de estrés físico o farmacológico. No existe un protocolo de tratamiento estandarizado, sin embargo, el trasplante hepático puede ser un procedimiento efectivo para revertir la disfunción cardiaca en algunos pacientes. En el presente artículo se describen tanto las características de la cardiomiopatía cirrótica, como su papel en la morbilidad y mortalidad del paciente con cirrosis.

Cirrhotic cardiomyopathy is a complication in cirrhotic patients, with a prevalence of more than 40%. During the resting state, it is a subclinical entity, which triggers symptoms upon exercise or circulatorystress. Its pathophysiology is explained by portal hypertension leading to splanchnic vasodilatation, with subsequent release of vasodilators and cardio-suppressive factors, which leads to hyperdynamic circulation and circulatory dysfunction, with elevated cardiac output, decreased vascular resistance and low blood pressure. The main characteristics are systolic and diastolic cardiac dysfunction, hyperdynamic circulation and electrophysiological alterations, especially prolongation of the QT interval. Echocardiography and physical or pharmacological stress tests are used in diagnosis. There is not an standardized treatment protocol. Liver transplantation can be an effective procedure to reverse cardiac dysfunction in selected patients. In this review, we describe the characteristics of cirrhotic cardiomyopathy and its role in the morbidity and mortality of the patient with cirrhosis.

Determinantes da capacidade funcional em pacientes com doença de chagas / Determinants of functional capacity in patients with chagas disease

Resumo Fundamento: A doença de Chagas leva à redução da capacidade funcional. Entretanto, o estágio em que o comprometimento funcional é detectável permanece obscuro. Objetivos: O presente estudo teve como objetivo comparar a capacidade funcional de pacientes em diferentes estágios da doença de Chagas e de indivíduos saudáveis e verificar os determinantes do consumo de oxigênio de pico (VO2pico). Métodos: Em um estudo transversal, foram selecionados 160 indivíduos, 35 saudáveis e 125 com doença de Chagas. No grupo chagásico, 61 (49%) estavam na forma indeterminada da doença, 45 (36%) com cardiomiopatia chagásica (CC) e função cardíaca preservada e 19 (15%) com disfunção cardíaca e CC dilatada. Os dados foram analisados por meio de análise de regressão univariada e multivariada. A significância estatística foi fixada em 5%. Resultados: Pacientes na forma indeterminada da doença apresentaram capacidade funcional semelhante a indivíduos saudáveis (p> 0,05). Pacientes com ChC e função cardíaca preservada apresentaram VO2pico menor que os pacientes na forma indeterminada (p <0,05), mas apresentaram valores de VO2pico semelhantes ao ChC dilatado (p = 0,46). A idade, sexo masculino, classe funcional da NYHA, pressão arterial diastólica, razão entre a velocidade do fluxo transmitral diastólico precoce e a velocidade anular mitral diastólica precoce, a fração de ejeção do ventrículo esquerdo (FEVE) e o diâmetro diastólico final do ventrículo esquerdo foram associados à capacidade funcional. Porém, apenas idade, sexo masculino, FEVE e classe funcional da NYHA permaneceram associados ao VO2pico no modelo final (R2 ajustado = 0,60). Conclusão: Pacientes com CC apresentam menor capacidade funcional do que pacientes na forma indeterminada. FEVE, idade, sexo masculino e classe funcional da NYHA foram determinantes do VO2pico em pacientes com doença de Chagas.

Abstract Background: Chagas disease leads to reduced functional capacity. However, the stage at which functional impairment is detectable remains unclear. Objectives: The present study was addressed to compare the functional capacity of patients at different stages of Chagas disease and healthy individuals and to verify the determinants of peak oxygen uptake (VO2peak). Methods: In a cross-sectional study, 160 individuals were selected, 35 healthy and 125 with Chagas disease. In the Chagasic group, 61 (49%) were in the indeterminate form of the disease, 45 (36%) with Chagas cardiomyopathy (ChC) and preserved cardiac function and 19 (15%) with cardiac dysfunction and dilated ChC. The data were analyzed using univariate and multivariate regression analysis. Statistical significance was set at 5%. Results: Patients in the indeterminate form of disease showed similar functional capacity to healthy individuals (p>0.05). Patients with ChC and preserved cardiac function had lower VO2peak than patients in the indeterminate form (p<0.05), but showed similar VO2peak values than dilated ChC (p=0.46). The age, male sex, NYHA functional class, diastolic blood pressure, ratio of the early diastolic transmitral flow velocity to early diastolic mitral annular velocity, left ventricular ejection fraction (LVEF) and left ventricular end-diastolic diameter were associated with functional capacity. However, only age, male sex, LVEF and NYHA functional class, remained associated with VO2peak in the final model (adjusted R2=0.60). Conclusion: Patients with ChC had lower functional capacity than patients in the indeterminate form. LVEF, age, male sex and NYHA functional class were determinants with VO2peak in patients with Chagas disease.

The preliminary value of vector flow mapping on assessment of left intraventricular pressure difference in patients with paroxysmal atrial fibrillation / 生物医学工程学杂志

This study aims to explore the intraventricular pressure difference (IVPD) within left ventricle in patients with paroxysmal atrial fibrillation (PAF) by using the relative pressure imaging (RPI) of vector flow mapping (VFM). Twenty patients with paroxysmal atrial fibrillation (PAF) and thirty control subjects were enrolled in the study. Systolic and diastolic IVPD derived from VFM within left ventricle and conventional echocardiographic parameters were analyzed. It was found that the B-A IVPD of left ventricle in PAF patients showed the same pattern as controls-single peak and single valley during systole and double peaks and double valleys during diastole. Basal IVPD was the main component of base to apex IVPD (B-A IVPD). The isovolumetric systolic IVPD was associated with early systolic IVPD, early systolic IVPD was associated with late systolic IVPD, and late systolic IVPD was associated with isovolumic diastolic IVPD (all

Recognition of S1 and S2 heart sounds with two-stream convolutional neural networks / 生物医学工程学杂志

Auscultation of heart sounds is an important method for the diagnosis of heart conditions. For most people, the audible component of heart sound are the first heart sound (S1) and the second heart sound (S2). Different diseases usually generate murmurs at different stages in a cardiac cycle. Segmenting the heart sounds precisely is the prerequisite for diagnosis. S1 and S2 emerges at the beginning of systole and diastole, respectively. Locating S1 and S2 accurately is beneficial for the segmentation of heart sounds. This paper proposed a method to classify the S1 and S2 based on their properties, and did not take use of the duration of systole and diastole. S1 and S2 in the training dataset were transformed to spectra by short-time Fourier transform and be feed to the two-stream convolutional neural network. The classification accuracy of the test dataset was as high as 91.135%. The highest sensitivity and specificity were 91.156% and 92.074%, respectively. Extracting the features of the input signals artificially can be avoid with the method proposed in this article. The calculation is not complicated, which makes this method effective for distinguishing S1 and S2 in real time.

Diastolic dysfunction for nephrologists: diagnosis at the point of care

SUMMARY Cardiovascular diseases are important causes of morbidity and mortality in the course of chronic kidney disease (CKD). Diastolic dysfunction (DD) may progress with the clinical manifestation of heart failure, known as heart failure with preserved ejection fraction, a condition that precedes systolic dysfunction. The early identification of DD by echocardiography at the point-of-care before the appearance of symptoms and signs of pulmonary congestion and the implementation of appropriate treatment can improve the prognosis of CKD. This review article briefly addresses DD in kidney disease and presents a practical approach to the echocardiographic diagnosis of DD at the point of care.

SUMÁRIO As doenças cardiovasculares são causa importante de morbidade e mortalidade no curso da doença renal crônica (DRC). A disfunção diastólica (DD) pode evoluir com insuficiência cardíaca manifesta clinicamente, denominada insuficiência cardíaca com fração de ejeção preservada, e precede a disfunção sistólica. A identificação precoce da DD pela ecocardiografia "point of care", antes do aparecimento dos sintomas e sinais de congestão pulmonar, e a implementação de tratamento adequado podem melhorar o prognóstico da DRC. Este artigo de revisão aborda brevemente a DD na doença renal e apresenta uma abordagem prática para o diagnóstico ecocardiográfico da DD à beira do leito

Prevalencia de disfunción diastólica de acuerdo con las guías diagnósticas de 2009 y 2016. Relación con la valoración hemodinámica no invasiva / Prevalence of diastolic dysfunction (DD) according to the diagnostic guidelines of 2009 and 2016. Relationship with non-invasive hemodynamic assessment

Resumen Objetivos: Evaluar la prevalencia de DD de acuerdo con los criterios de las guías del 2009 y 2016, y su relación con la distensibilidad arterial sistémica (DAS) y la resistencia vascular periférica (RVP). Material y métodos: Se analizó a 306 pacientes ≥ 40 años de edad, con fracción de expulsión ≥ 50%. Se calcularon en todos DAS y RVP. Resultados: La prevalencia de DD fue de 32.7% y 22.9% según las guías de 2009 y 2016, respectivamente (p = < 0.0001). De acuerdo con las guías del 2009, los pacientes con DD presentaron una media de DAS menor que aquéllos con función normal (p = 0.0001), de modo similar a las guías del 2016 (p = 0.0007). La DD, según las guías de 2009 y 2016, mostró valores más altos de RVP que los normales (p = 0.005 y p = 0.018, respectivamente). Asimismo, la DD fue predictora, en el análisis univariado, de DAS < 0.60 ml.mm Hg-1 y RVP > 1,400 mmHg.min.l-1 según ambas guías. En el análisis multivariado, la DD, de acuerdo con las guías del 2009, persistió como predictor independiente de RVP > 1,400 mmHg.min.l-1. Conclusión: Las guías del 2016 reducen la prevalencia de DD. Ésta, tanto en las guías del 2009 como en las del 2106, fue predictor univariado de DAS < 0.60 ml.mmHg-1 y RVP > 1,400 mmHg.min.l-1. La DD, de acuerdo con las guías de 2009, resultó predictora independiente de RVP > 1,400 mmHg.min.l-1.

Abstract Objectives: To assess the prevalence of developmental disabilities (DD) according to the criteria of the 2009 and 2016 guidelines, and its association with systemic arterial compliance (DAS) and peripheral vascular resistance (RVP). Material and methods: 306 patients aged ≥ 40 years, with ejection fraction ≥ 50% were analyzed. It was estimated in all DAS and RVP. Results: The prevalence of DD was 32.7% and 22.9% according to the 2009 and 2016 guidelines, respectively (p ≤ 0.0001). Patients with DD according to the 2009 guideline had a lower average of DAS than those with normal function (p = 0.0001). Similar with the 2016 guide (p = 0.0007). The presence of DD according to the 2009 and 2016 guideline showed higher RVP values than normal values (p = 0.005 and p = 0.018, respectively). The DD according to both guidelines was a predictor, in the univariate analysis, of DAS < 0.60 ml.mmHg−1 and RVP > 1400 mmHg.min.l−1. The DD according to the 2009 guideline persisted as an independent predictor, in the multivariate analysis, of RVP > 1400 mmHg.min.l−1. Conclusion: The 2016 guide decreases the prevalence of DD. The DD, both from the 2009 and 2106 guidelines, were univariate predictors of DAS <0.60 ml.mmHg−1 and RVP > 1400 mmHg.min.l−1. The DD according to the 2009 guide, was an independent predictor of RVP > 1400 mmHg.min.l−1.

Longitudinal Shortening of the Left Ventricle by Cine-CMR for Assessment of Diastolic Function in Patients with Aortic Valve Disease / Encurtamento Longitudinal do Ventrículo Esquerdo por Cine-RMC para Avaliação da Função Diastólica em Pacientes com Doença Valvar Aórtica

Abstract Background: Diastolic dysfunction, commonly evaluated by echocardiography, is an important early finding in many cardiomyopathies. Cardiac magnetic resonance (CMR) often requires specialized sequences that extends the test time. Recently, feature-tracking imaging has been made available, but still requires expensive software and lacks clinical validation. Objective: To assess diastolic function in patients with aortic valve disease (AVD) and compare it with normal controls by evaluating left ventricular (LV) longitudinal displacement by CMR. Methods: We compared 26 AVD patients with 19 normal controls. Diastolic function was evaluated as LV longitudinal displacement in 4-chamber view cine-CMR images using steady state free precession (SSFP) sequence during the entire cardiac cycle with temporal resolution < 50 ms. The resulting plot of atrioventricular junction (AVJ) position versus time generated variables of AVJ motion. Significance level of p < 0.05 was used. Results: Maximum longitudinal displacement (0.12 vs. 0.17 cm), maximum velocity during early diastole (MVED, 0.6 vs. 1.4s-1), slope of the best-fit line of displacement in diastasis (VDS, 0.22 vs. 0.03s-1), and VDS/MVED ratio (0.35 vs. 0.02) were significantly reduced in AVD patients compared with controls, respectively. Aortic regurgitation showed significantly worse longitudinal LV shortening compared with aortic stenosis. Higher LV mass indicated worse diastolic dysfunction. Conclusions: A simple linear measurement detected significant differences on LV diastolic function between AVD patients and controls. LV mass was the only independent predictor of diastolic dysfunction in these patients. This method can help in the evaluation of diastolic dysfunction, improving cardiomyopathy detection by CMR, without prolonging exam time or depending on expensive software.

Resumo Fundamentos: A disfunção diastólica, comumente avaliada por ecocardiografia, é um importante achado precoce na maioria das cardiomiopatias. A ressonância magnética cardíaca (RMC) frequentemente requer sequências específicas que prolongam o tempo de exame. Recentemente, métodos de imagens com monitoramento de dados (feature-tracking) foram desenvolvidos, mas ainda requerem softwares caros e carecem de validação clínica. Objetivos: Avaliar a função diastólica em pacientes com doença valvar aórtica (DVA) e compará-la a controles normais pela medida do deslocamento longitudinal do ventrículo esquerdo (VE) por RMC. Métodos: Nós comparamos 26 pacientes com DVA com 19 controles normais. A função diastólica foi avaliada como uma medida do deslocamento longitudinal do VE nas imagens de cine-RMC no plano quatro câmaras usando a sequência steady state free precession (SSFP) durante todo o ciclo cardíaco com resolução temporal < 50 ms. O gráfico resultante da posição da junção atrioventricular versus tempo gerou variáveis de movimento da junção atrioventricular. Utilizamos nível de significância de p < 0,005. Resultados: Deslocamento longitudinal máximo (0,12 vs. 0,17 cm), velocidade máxima em início de diástole (0,6 vs. 1,4s-1), velocidade máxima na diástase (0,22 vs. 0,03s-1) e a razão entre a velocidade máxima na diástase e a velocidade máxima em diástole inicial (0,35 vs. 0,02) foram significativamente menores nos pacientes com DVA em comparação aos controles normais, respectivamente. Pacientes com insuficiência aórtica apresentaram medidas de encurtamento longitudinal do VE significativamente piores em comparação aqueles com estenose aórtica. O aumento da massa ventricular esquerda indicou pior disfunção diastólica. Conclusões: Esta simples medida linear detectou diferenças significativas na função diastólica do VE entre pacientes com DVA e controles normais. A massa ventricular esquerda foi o único preditor independente de disfunção diastólica nesses pacientes. Este método pode auxiliar na avaliação da disfunção diastólica, melhorando a detecção de cardiomiopatias por RMC sem prolongar o tempo de exame ou depender de caros softwares.

Coronary Computed Tomography Angiography-Derived Fractional Flow Reserve in Patients with Anomalous Origin of the Right Coronary Artery from the Left Coronary Sinus

Cardiac magnetic resonance analysis of mitral annular dynamics after mitral valve repair

OBJECTIVES: The aim of this study was to analyze mitral annulus (MA) dynamics using cardiac magnetic resonance (CMR) in patients with degenerative mitral insufficiency who underwent mitral valve repair (MVR). METHODS: Mitral valve imaging was performed by CMR in twenty-nine patients with degenerative mitral insufficiency who underwent MVR between July 2014 and August 2016, with quadrangular resection of the posterior leaflet without ring annuloplasty. They were prospectively followed up from the preoperative period up to 2 years postoperatively. RESULTS: We observed a significant reduction in all measurements of the MA after surgery. The mean systolic circumference of the MA was reduced from 13.28±1.95 cm to 11.50±1.59 cm, and the diastolic circumference was reduced from 12.51±2.01 cm to 10.66±2.09 cm in the immediate postoperative period, measures that remained stable 2 years after MVR (p<0.001). The mean maximum area of the MA was significantly reduced from 14.34±4.03 to 10.45±3.17 cm2 when comparing the immediate postoperative period and the 2 year follow-up (p<0.001). The same occurred with the mean minimum area of the MA, which was reduced from 12.53±3.68 cm2 to 9.23±2.84 cm2 in the same period, and this reduction was greater in the antero-posterior diameter than in the mid-lateral diameter. The mobility of the MA was preserved after surgery, ranging between 19.6% and 25.7% at 2-year follow-up. CONCLUSION: We observed a significant reduction in the MA size after MVR, with preservation of the MA mobility at the 2-year follow-up.

Risk of Obstructive Sleep Apnea and Echocardiographic Parameters / Correlação entre Risco de Apneia Obstrutiva do Sono e Parâmetros do Ecocardiograma

Abstract Background: Obstructive sleep apnea (OSA) is a chronic progressive disorder with high mortality and morbidity rate, associated with cardiovascular diseases (CVD), especially heart failure (HF). The pathophysiological changes related to OSA can directly affect the diastolic function of the left ventricle. Objectives: To assess the association of the risk of OSA, evaluated by the Berlin Questionnaire (BQ), and echocardiographic (ECHO) parameters related to diastolic dysfunction in individuals without HF assisted in primary care. Methods: A cross-sectional study that included 354 individuals (51% women) aged 45 years or older. All individuals selected were submitted to an evaluation that included the following procedures: consultation, filling out the BQ, clinical examination, laboratory examination and transthoracic Doppler echocardiography (TDE). Continuous data are presented as medians and interquartile intervals, and categoric variables in absolute and relative frequencies. The variables associated with risk of OSA and at the 0.05 level integrated the gamma regression models with a log link function. A value of p < 0.05 was considered an indicator of statistical significance. Exclusion criteria were presence of HF, to fill out the BQ and patients with hypertension and obesity not classified as high risk for OSA by other criteria. All individuals were evaluated on a single day with the following procedures: medical appointment, BQ, laboratory tests and ECHO. Results: Of the 354 individuals assessed, 63% were classified as having high risk for OSA. The patients with high risk for OSA present significantly abnormal diastolic function parameters. High risk for OSA confirmed positive and statistically significant association, after adjustments, with indicators of diastolic function, such as indexed left atrium volume LAV-i (p = 0.02); E'/A' (p < 0.01), A (p = 0.02), E/A (p < 0.01). Conclusion: Our data show that patients at high risk for OSA present worsened diastolic function parameters measured by TDE.

Resumo Fundamento: A apneia obstrutiva do sono (AOS) é um transtorno crônico, progressivo, com alta morbimortalidade e associado às doenças cardiovasculares (DCV), entre elas a insuficiência cardíaca (IC). As alterações fisiopatológicas relacionadas com a AOS podem impactar diretamente a função diastólica do ventrículo esquerdo. Objetivo: Estimar a associação entre risco de AOS, avaliada pelo Questionário de Berlim (QB), e parâmetros do ecocardiograma, relacionados com a função diastólica, em indivíduos sem IC na atenção primária. Métodos: Estudo transversal que incluiu 354 indivíduos (51% mulheres) com idade igual ou superior a 45 anos. Todos os indivíduos selecionados foram submetidos a uma avaliação que constou dos seguintes procedimentos: consulta, preenchimento do QB e exame clínico, realização de exames laboratoriais e ecocardiograma Doppler transtorácico (EDT). Os dados contínuos são apresentados em medianas e intervalos interquartílicos e os categóricos em frequências absolutas e relativas. As variáveis que apresentaram associação ao risco de AOS em nível de 0,05 integraram os modelos de regressão gama com função de ligação log link. Análise bruta: Um valor de p < 0,05 foi considerado como indicador de significância estatística. Resultados: Dos 354 indivíduos analisados, 63% foram classificados como tendo alto risco para AOS. Os pacientes com alto risco para AOS apresentam alterações significativas dos parâmetros que avaliam a função diastólica. Alto risco para AOS confirmou sua associação positiva e estatisticamente significativa, após ajuste, a indicadores de disfunção diastólica - VAE-i (p = 0,02); E'/A' (p < 0,01); A (p = 0,02); E/A (p < 0,01). Conclusão: Nossos dados mostram que pacientes com alto risco de AOS apresentam piora dos parâmetros de função diastólica medidos pelo EDT.

Functional magnetic resonance imaging in the evaluation of the elastic properties of ascending aortic aneurysm

Abstract Objective: To evaluate the aortic wall elasticity using the maximal rate of systolic distension (MRSD) and maximal rate of diastolic recoil (MRDR) and their correlation with the aortic size index (ASI). Methods: Forty-eight patients with thoracic aortic aneurysm were enrolled in this study. A standard magnetic resonance imaging (MRI) protocol was used to calculate MRSD and MRDR. Both MRSD and MRDR were expressed as percentile of maximal area/10-3 sec. ASI (maximal aortic diameter/body surface area) was calculated. A correlation between MRSD, MRDR, ASI, and the patient's age was performed using regression plot. Results: A significant correlation between MRSD (t=-4,36; r2=0.29; P≤0.0001), MRDR (t=3.92; r2=0.25; P=0.0003), and ASI (25±4.33 mm/m2; range 15,48-35,14 mm/m2) is observed. As ASI increases, aortic MRSD and MRDR decrease. Such inverse correlation between MRSD, MRDR, and ASI indicates increased stiffness of the ascending aorta. A significant correlation between the patient's age and the decrease in MRSD and MRDR is observed. Conclusion: MRSD and MRDR are significantly correlated with ASI and the patient's age. They seem to describe properly the increasing stiffness of aortas. These two new indexes provide a promising, accessible, and reproducible approach to evaluate the biomechanical property of the aorta.