Circulating biomarker- and magnetic resonance-based nomogram predicting long-term outcomes in dilated cardiomyopathy / 中华医学杂志(英文版)

BACKGROUND@#Dilated cardiomyopathy (DCM) has a high mortality rate and is the most common indication for heart transplantation. Our study sought to develop a multiparametric nomogram to assess individualized all-cause mortality or heart transplantation (ACM/HTx) risk in DCM patients.@*METHODS@#The present study is a retrospective cohort study. The demographic, clinical, blood test, and cardiac magnetic resonance imaging (CMRI) data of DCM patients in the tertiary center (Fuwai Hospital) were collected. The primary endpoint was ACM/HTx. The least absolute shrinkage and selection operator (LASSO) Cox regression model was applied for variable selection. Multivariable Cox regression was used to develop a nomogram. The concordance index (C-index), area under the receiver operating characteristic curve (AUC), calibration curve, and decision curve analysis (DCA) were used to evaluate the performance of the nomogram.@*RESULTS@#A total of 218 patients were included in the present study. They were randomly divided into a training cohort and a validation cohort. The nomogram was established based on eight variables, including mid-wall late gadolinium enhancement, systolic blood pressure, diastolic blood pressure, left ventricular ejection fraction, left ventricular end-diastolic diameter, left ventricular end-diastolic volume index, free triiodothyronine, and N-terminal pro-B type natriuretic peptide. The AUCs regarding 1-year, 3-year, and 5-year ACM/HTx events were 0.859, 0.831, and 0.840 in the training cohort and 0.770, 0.789, and 0.819 in the validation cohort, respectively. The calibration curve and DCA showed good accuracy and clinical utility of the nomogram.@*CONCLUSIONS@#We established and validated a circulating biomarker- and CMRI-based nomogram that could provide a personalized prediction of ACM/HTx for DCM patients, which might help risk stratification and decision-making in clinical practice.

Como eu faço no Coração de Atleta: avaliação dos diferentes tipos de adaptação ao exercício / My approach to "Athlete'S Heart": evaluation of the different types of adaptation to exercise

A prática regular de esportes pode induzir adaptações no coração, sendo essa condição comumente chamada de "coração de atleta". As alterações observadas incluem dilatação das câmaras cardíacas, aumento da espessura miocárdica, melhora do enchimento ventricular, aumento da trabeculação do ventrículo esquerdo (VE), dilatação da veia cava inferior, entre outras. Essas alterações também podem ser observadas em algumas doenças cardíacas, como cardiomiopatia (CMP) dilatada, hipertrófica e outras. Dessa forma, os exames de imagem cardíaca são fundamentais na identificação dessas alterações e na diferenciação entre o "coração de atleta" e uma possível cardiopatia.(AU)

Exercise-induced adaptation may occur in amateur and professional athletes. This condition is commonly named "athlete's heart". The alterations observed include dilation of the heart chambers, increased myocardial thickness, improved ventricular filling, increased left ventricular trabeculation, dilation of the inferior vena cava, among others. These changes can also be observed in some heart diseases, such as dilated, hypertrophic and other cardiomyopathies (CMP). Thus, cardiac imaging tests are fundamental in identifying these alterations and in differentiating between "athlete's heart" and possible heart disease. (AU)

Recent studies on dilated cardiomyopathy caused by TTN mutations in children / 中国当代儿科杂志

The mutations of TTN gene that encodes titin are the most common mutation type among the genetic causes of dilated cardiomyopathy (DCM). This article reviews the worldwide studies on potential molecular pathogenesis (transcription, post-translational modification, etc.), clinical phenotypes, and gene therapies of pediatric DCM caused by TTN mutations, with the hope of providing a reference for the precision treatment of pediatric DCM caused by TTN mutations.

A case of dilated cardiomyopathy caused by FHL2 gene variant and a literature review / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical phenotype and genetic features of a child with dilated cardiomyopathy (DCM).@*METHODS@#Clinical data of the child who had presented at the Zhengzhou Children's Hospital on April 28, 2020 was collected. Trio-whole exome sequencing (trio-WES) was carried out for the child and her parents, and candidate variants were validated by Sanger sequencing. "FHL2" was taken as the key word to retrieve related literature from January 1, 1997 to October 31, 2021 in the PubMed database and was also searched in the ClinVar database as a supplement to analyze the correlation between genetic variants and clinical features.@*RESULTS@#The patient was a 5-month-old female infant presented with left ventricular enlargement and reduced systolic function. A heterozygous missense variant c.391C>T (p.Arg131Cys) in FHL2 gene was identified through trio-WES. The same variant was not detected in either of her parents. A total of 10 patients with FHL2 gene variants have been reported in the literature, 6 of them had presented with DCM, 2 with hypertrophic cardiomyopathy (HCM), and 2 with sudden unexplained death (SUD). Phenotypic analysis revealed that patients with variants in the LIM 3 domain presented hypertrophic cardiomyopathy and those with variants of the LIM 0~2 and LIM 4 domains had mainly presented DCM. The c.391C>T (p.Arg131Cys) has been identified in a child with DCM, though it has not been validated among the patient's family members. Based on the guidelines of the American College of Medical Genetics and Genomics, the c.391C>T(p.Arg131Cys) variant was re-classified as likely pathogenic (PS2+PM2_Supporting+PP3+PP5).@*CONCLUSION@#The heterozygous missense variant of c.391C>T (p.Arg131Cys) in the FHL2 gene probably predisposed to the DCM in this child, which has highlighted the importance of WES in the clinical diagnosis and genetic counseling.

Clinical and genetic characteristics of children with primary dilated cardiomyopathy / 中国当代儿科杂志

OBJECTIVES@#To study the genetic characteristics, clinical characteristics, and prognosis of children with primary dilated cardiomyopathy (DCM).@*METHODS@#A retrospective analysis was performed on the medical data of 44 children who were diagnosed with DCM in Hebei Children's Hospital from July 2018 to February 2023. According to the genetic testing results, they were divided into two groups: gene mutation-positive group (n=17) and gene mutation-negative group (n=27). The two groups were compared in terms of clinical data at initial diagnosis and follow-up data.@*RESULTS@#Among the 44 children with DCM, there were 21 boys (48%) and 23 girls (52%). Respiratory symptoms including cough and shortness of breath were the most common symptom at initial diagnosis (34%, 15/44). The detection rate of gene mutations was 39% (17/44). There were no significant differences between the two groups in clinical characteristics, proportion of children with cardiac function grade Ⅲ or Ⅳ, brain natriuretic peptide levels, left ventricular ejection fraction, and left ventricular fractional shortening at initial diagnosis (P>0.05). The median follow-up time was 23 months, and 9 children (20%) died, including 8 children from the gene mutation-positive group, among whom 3 had TTN gene mutation, 2 had LMNA gene mutation, 2 had TAZ gene mutation, and 1 had ATAD3A gene mutation. The gene mutation-positive group had a significantly higher mortality rate than the gene mutation-negative group (P<0.05).@*CONCLUSIONS@#There is no correlation between the severity of DCM at initial diagnosis and gene mutations in children. However, children with gene mutations may have a poorer prognosis.

Phenotype and genotype characteristics of children with cardiomyopathy associated with MYH7 gene mutation: a retrospective analysis / 中国当代儿科杂志

OBJECTIVES@#To investigate the clinical phenotype and genotype characteristics of children withcardiomyopathy (CM) associated with MYH7 gene mutation.@*METHODS@#A retrospective analysis was conducted on the medical data of five children with CM caused by MYH7 gene mutation who were diagnosed and treated in the Department of Cardiology, Hebei Children's Hospital.@*RESULTS@#Among the five children with CM, there were three girls and two boys, all of whom carried MYH7 gene mutation. Seven mutation sites were identified, among which five were not reported before. Among the five children, there were three children with hypertrophic cardiomyopathy, one child with dilated cardiomyopathy, and one child with noncompaction cardiomyopathy. The age ranged from 6 to 156 months at the initial diagnosis. At the initial diagnosis, two children had the manifestations of heart failure such as cough, shortness of breath, poor feeding, and cyanosis of lips, as well as delayed development; one child had palpitation, blackness, and syncope; one child had fever, runny nose, and abnormal liver function; all five children had a reduction in activity endurance. All five children received pharmacotherapy for improving cardiac function and survived after follow-up for 7-24 months.@*CONCLUSIONS@#The age of onset varies in children with CM caused by MYH7 gene mutation, and most children lack specific clinical manifestations at the initial diagnosis and may have the phenotype of hypertrophic cardiomyopathy, dilated cardiomyopathy or noncompaction cardiomyopathy. The children receiving early genetic diagnosis and pharmacological intervention result in a favorable short-term prognosis.

Research progress on the expression of the RBM20 gene in dilated cardiomyopathy / 中国当代儿科杂志

Dilated cardiomyopathy (DCM) is a significant contributor to heart failure and can lead to life-threatening cardiovascular events at any stage. RNA-binding motif protein 20 (RBM20) gene mutation is known to be one of the causes of DCM. This mutation exhibits familial aggregation and is associated with arrhythmias, increasing the risk of sudden and early death. This article delves into the characteristics of the RBM20 gene, highlighting its role in regulating alternative splicing of the TTN gene and calcium/calmodulin-dependent protein kinase type II gene. Furthermore, the article provides a summary of treatment options available for DCM caused by RBM20 gene mutations, aiming to enhance clinicians' understanding of the RBM20 gene and provide new ideas for precision medicine treatment.

Genetic testing and clinical analysis of a patient with Dilated cardiomyopathy due to variant of FLNC gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a patient with Dilated cardiomyopathy.@*METHODS@#A patient admitted to Beijing Anzhen Hospital Affiliated to Capital Medical University in April 2022 was selected as the study subject. Clinical data and family history of the patient was collected. Targeted exome sequencing was carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis based on guidelines of the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#DNA sequencing revealed that the patient has harbored a heterozygous c.5044dupG frameshift variant of the FLNC gene. Based on the ACMG guidelines, the variant was predicted to be likely pathogenic (PVS1+PM2_Supporting+PP4).@*CONCLUSION@#The heterozygous c.5044dupG variant of the FLNC gene probably underlay the pathogenesis in this patient, which has provided a basis for the genetic counseling for his family.

Expert consensus on the genetic diagnosis for Dystrophinopathies / 中华医学遗传学杂志

Dystrophinopathies, including Duchenne muscular dystrophy, Becker muscular dystrophy and dilated cardiomyopathy, are X-linked recessive genetic disorders due to variants of the dystrophin gene, which can seriously affect quality of life and health. Genetic diagnosis plays a crucial role in their diagnosis, treatment, and prevention. How to rationally select and standardize the use of various genetic techniques is a skill that clinicians must acquire. By compiling expertise of experts from the relevant areas and guidelines published home and abroad, this consensus has provided a guidance from the perspective of genetic diagnosis for the selection of genetic techniques, testing strategies, and detection process for dystrophinopathies.

Network Meta-analysis of 11 Chinese patent medicines in treatment of dilated cardiomyopathy / 中国中药杂志

Bayesian network Meta-analysis was performed to evaluate the efficacy and safety of different Chinese patent medicines in the treatment of dilated cardiomyopathy. The PubMed, EMbase, Cochrane Library, CNKI, Wanfang, and VIP were searched for the randomized controlled trial(RCT) from the inception to May 2023. The quality of the included RCT was evaluated by the Cochrane risk of bias assessment tool, and the data were analyzed by RStudio 3.6.3 calling the "gemtc" package. A total of 96 RCTs involving 8 452 patients, 11 Chinese patent medicines, and 8 outcome indicators were included. Network Meta-analysis is described as follows.(1)In terms of improving clinical total effective rate, except Yixinshu Capsules + conventional western medicine, Shexiang Baoxin Pills + conventional western medicine, and Xinshuai Mixture + conventional western medicine, the other Chinese patent medicines combined with conventional western medicine were superior to conventional western medicine alone, and Shenqi Yiqi Dropping Pills + conventional western medicine had the best effect.(2)In terms of improving left ventricular ejection fraction(LVEF), except Yixinshu Capsules + conventional western medicine and Shensong Yangxin Capsules + conventional western medicine, other Chinese patent medicines combined with conventional western medicine outperformed conventional western medicine alone, and Shexiang Baoxin Pills + conventional western medicine had the best effect.(3)In terms of reducing left ventricular end-diastolic dimension(LVEDD), Getong Tongluo Capsules + conventional western medicine, Xinshuai Mixture + conventional western medicine, Huangqi Mixture + conventional western medicine, Tongxinluo Capsules + conventional western medicine, Wenxin Granules + conventional western medicine, and Qili Qiangxin Capsules + conventional western medicine were better than conventional western medicine alone, and Wenxin Granules + conventional western medicine had the best effect.(4)There was no significant difference in reducing left ventricular end-systolic diameter(LVESD) between Chinese patent medicines combined with conventional western medicine and conventional western medicine alone.(5)In terms of improving 6-minute walking trail(6MWT), Yangxinshi Tablets + conventional western medicine, Yixinshu Capsules + conventional western medicine, Shenqi Yiqi Dropping Pills + conventional western medicine, Wenxin Granules + conventional western medicine, and Qili Qiangxin Capsules + conventional western medicine were superior to conventional western medicine alone, and Shenqi Yiqi Dropping Pills + conventional western medicine had the best effect.(6)In reducing brain natriuretic peptide(BNP), Xinshuai Mixture + conventional western medicine ourperformed conventional western medicine alone.(7)In reducing hypersensitive C-reactive protein(hs-CRP), Shenqi Yiqi Dropping Pills + conventional western medicine, Qili Qiangxin Capsules + conventional western medicine outperformed conventional western medicine alone, and Qili Qiangxin Capsules + conventional western medicine had the best effect.(8)In terms of safety, adverse reactions were reported in both groups. In conclusion, Chinese patent medicine combined with conventional western medicine were more effective in the treatment of dilated cardiomyopathy. The combinations relieve clinical symptoms and improve cardiac function indexes, and thus can be used according to the patients' conditions in clinical practice. However, limited by the quality and sample size of the included studies, the conclusion remains to be verified by multi-center, large-sample, and high-quality RCT in the future.

Distrofia muscular de Duchenne, una causa infrecuente de miocardiopatía dilatada / Duchenne muscular dystrophy, a rare cause of dilated cardiomyopathy

Neuromuscular diseases represent a rare cause of dilated myocardiopathy, among them Duchenne muscular dystrophy is the most common. Transthoracic echocardiography and cardiac magnetic resonance imaging can assess cardiac involvement early. The case of a patient diagnosed with Duchenne muscular dystrophy who develops cardiac involvement during cardiology follow-up is presented below.

Enfermedad hepática congestiva, las repercusiones hepáticas de un corazón enfermo / Congestive liver disease, the hepatic consequences of a diseased heart

La hepatopatía congestiva comprende el espectro de manifestaciones a nivel del hígado, con injuria inducida como consecuencia de la congestión venosa hepática por una alteración en el flujo venoso del tracto de salida hepático. La etiología más frecuente es la falla cardiaca derecha, que por aumento de la presión venosa central, lleva retrógradamente al aumento de la presión venosa hepática, disminución del flujo hepático y disminución de la saturación de oxígeno, con congestión a nivel sinusoidal y particular compromiso de los hepatocitos de la zona 3. Generalmente tiene una presentación subclínica en cuanto a manifestaciones hepáticas que son enmascaradas por los signos y síntomas de falla cardiaca. El diagnóstico comprende la suma de hallazgos serológicos, imagenológicos e histológicos, luego de una exclusión de otras patologías con posible injuria hepática. El tratamiento se basa en el manejo de la falla cardiaca de base, y el pronóstico a su vez, queda supeditado a la fase de la enfermedad cardiaca de base. Se realizó una búsqueda de la literatura con el fin de construir una revisión de esta entidad, con conceptos actualizados a partir de la evidencia reciente.

Congestive liver disease comprises the spectrum of manifestations secondary to liver injury as a consequence of hepatic venous congestion due to a disturbance in the hepatic venous outflow. The most frequent cause is right heart failure, which, due to an increase in central venous pressure, leads retrogradely to an increase in hepatic venous pressure, a decrease in liver inflow and a decrease in oxygen saturation, with sinusoidal congestion and characteristic compromise of zone 3 hepatocytes. Its presentation is usually subclinical in terms of liver manifestations, masked by the signs and symptoms of heart failure. The diagnosis includes the sum of serological, imaging and histological findings, after exclusion of other entities involving liver injury. Treatment is based on the management of the underlying heart failure and the prognosis is as well dependent on the stage of the underlying heart disease. A literature search was carried out in order to create a review of this entity with updated concepts based on recent evidence.

Left atrial function analysis in patients with functional mitral regurgitation associated with dilated cardiomyopathy / Análise da função atrial esquerda em pacientes com insuficiência mitral funcional associada à miocardiopatia dilatada

BACKGROUND: Functional mitral regurgitation (FMR) is associated with dilated cardiomyopathy (DC), heart failure (HF), and worsening left atrial function (LAF). Patients with DC and FMR may present left atrial dysfunction resulting from both ventricular dysfunction and valve disease, but it is unknown whether the presence of valve disease will lead to greater LAF impairment. OBJECTIVE: This study aimed to evaluate the relationship between LAF parameters and FMR degree in patients with DC. METHODS: This cross-sectional observational study included 214 patients with DC, 46 without FMR (control group) and 168 with mild, moderate or severe FMR. An LAF analysis was performed by speckle tracking echocardiography (STE) and atrial volumetric variation. RESULTS: LAF analyzed by STE by means of reservoir strain, conduit strain and active contraction strain was reduced in the sample, with values of 14.3%, 8.49% and 5.92%, respectively. FMR degree was significantly associated with reservoir strain (0.27 ± 0.16 versus 0.15 ± 0.09; p < 0.001) and contraction strain (19.2 ± 7.3 versus 11.2 ± 2.7; p < 0.001). FMR was also associated with a reduced LAF assessed by volumetric analysis: total atrial emptying fraction of 0.51 ± 0.13 versus 0.34 ± 0.11 and active atrial emptying fraction of 0 .27 ± 0.16 versus 0.15 ± 0.09 (p < 0.001). CONCLUSION: In a population with DC, FMR was associated with reduced LAF assessed by STE and atrial volume variation.

FUNDAMENTO: A insuficiência mitral funcional (IMF) está associada à miocardiopatia dilatada (MD), à insuficiência cardíaca (IC) e à piora da função atrial esquerda (FAE). A FAE pode decair tanto pela disfunção ventricular quanto pela valvopatia, mas não se sabe se esta leva a um prejuízo maior da FAE. OBJETIVO: Avaliar a relação entre a piora de parâmetros de FAE com o grau de IMF, em pacientes com MD. MÉTODOS: Trata-se de estudo observacional transversal, que incluiu 214 pacientes com MD, sendo 46 sem IMF (controle) e 168 com IMF discreta, moderada ou grave. A análise da FAE foi realizada por ecocardiografia por speckle tracking (STE) e por variação volumétrica atrial. RESULTADOS: A FAE, analisada por STE­ por meio do strain de reservatório, conduto e contração ativa ­ encontrou-se reduzida na amostra, com valores respectivos de 14,3%, 8,49% e 5,92%. O grau de IMF associou-se significativamente com os valores do strain de reservatório (0,27±0,16 versus 0,15±0,09; p <0,001. CONCLUSÃO: Em uma população com MD, a presença de IMF associa-se à redução da FAE de reservatório e de contração, avaliada por STE e pela variação volumétrica atrial.

Factores predictores de aparición de fibrilación auricular en pacientes con miocardiopatía dilatada / Predicting factors of atrial fibrillation in patients with dilated cardiomyopathy

Resumen Introducción El uso de terapia anticoagulante en pacientes con miocardiopatía dilatada es controvertido. El riesgo hemorrágico hace que habitualmente no se use en pacientes en ritmo sinusal. Objetivo Analizar los factores predictores de fibrilación auricular (FA) en pacientes con miocardiopatía dilatada y fracción de eyección del ventrículo izquierdo (FEVI) < 40. Método: Se estudiaron los pacientes incluidos en el registro multicéntrico UMBRELLA a quienes se había implantado un desfibrilador (DAI) bicameral o tricameral y que presentaban miocardiopatía dilatada isquémica o no isquémica y FEVI < 40%. Se definió FA como cualquier episodio > 30 segundos de duración y una frecuencia auricular > 175 latidos por minuto. Resultados Se incluyeron 684 enfermos. La mediana de edad fue de 70 años (rango intercuartílico [RIQ]: 62-77). El 79.1% eran varones. La FEVI fue < 30% en el 76.3%. El 87.3% presentaban insuficiencia cardiaca (ICC) clínica. Se implantó un DAI resincronizador en el 59.5%. El 51.2% tenían bloqueo de rama izquierda del haz de His y el 7.1% de rama derecha (BRDHH). Se documentó FA en el 49% de los enfermos con una mediana de seguimiento de 29.93 meses (RIQ: 14.78-45.63). Las variables que se relacionaron con la aparición de FA fueron la presencia de ICC (hazard ratio [HR]: 2; intervalo de confianza del 95% [IC 95%]: 1.31-3.04; p = 0.001), el BRDHH (HR: 1.48; IC 95%: 1-2-18; p = 0.045), el ictus previo (HR: 2.11; IC 95%: 1.4-3.19; p < 0.001) y la edad > 75 años (HR: 1.21; IC 95%: 1.05-1.40; p = 0.008). Conclusiones La edad > 75 años, el BRDHH, la ICC y el ictus previo predicen la aparición de FA en la población con miocardiopatía dilatada y FEVI < 40%.

Abstract Introduction Anticoagulant treatment in patients with dilated cardiomyopathy and sinus rhythm is controversial due to haemorrhage risk. Objective To analyze the factors predicting atrial fibrillation (AF) in patients with dilated cardiomyopathy and ejection fraction (LVEF) < 40%. Method All patients included in UMBRELLA multicentre registry without AF, who had a dual or three-chamber implantable cardiac defibrillator (ICD), dilated cardiomyopathy and LVEF < 40% were included. AF was defined as any episode > 30 seconds of duration and atrial frequency > 175 bpm. Results 684 patients were included. Median age was 70 years (IQR 62-77); 79.1% were male. LVEF was < 30% in 76.3% of cases; 87.3% presented clinical heart failure (CHF). A CRT-D was implanted in 59.5%; 51.2% of patients presented Left Bundle Branch Block (LBBB) and 7.1% presented Right Bundle Branch Block (RBBB). AF was documented in 49% of patients, with a median follow-up of 29.93 months (IQR: 14.78-45.63). The presence of CHF (HR: 2; 95% CI: 1.31-3.04; p = 0.001), RBBB (HR: 1.48; 95% CI: 1-2-18; p = 0.045), previous stroke (HR: 2.11; 95% CI: 1.4-3.19; p < 0.001) and age > 75 years (HR: 1.21; 95% CI: 1.05-1.40; p = 0.008) were associated with diagnosis of AF. Conclusions Age > 75 years, RBBB, CHF and previous stroke are predictors of AF development in the population with dilated cardiomyopathy and LVEF < 40%.

Exercise Training Improved Pulmonary Gas Exchange Abnormalities in Pulmonary Hypertension due to Heart Failure: A Case Report

Abstract Heart failure (HF) is the most common cause of pulmonary hypertension (PH), and reduced exercise capacity and exertional dyspnea are the most frequent concerns in patients with PH-HF. Indeed, carbon dioxide end-tidal partial pressure (PETCO 2 ) during exercise is a well-established noninvasive marker of ventilation/perfusion ratio in PH. We aimed to evaluate the effect of aerobic exercise training on PETCO 2 response during exercise in a 59-year-old woman with PH secondary to idiopathic dilated cardiomyopathy. The patient with chronic fatigue and dyspnea at mild-to-moderate efforts was admitted to a cardiorespiratory rehabilitation program and had her cardiorespiratory response to exercise assessed during a cardiopulmonary exercise testing performed before and after three months of a thrice-weekly aerobic exercise training program. Improvements in aerobic capacity (23.9%) and endurance time (37.5%) and reduction in ventilatory inefficiency (-20.2%) was found after intervention. Post-intervention improvements in PETCO 2 at ventilatory anaerobic threshold (23.3%) and change in PETCO 2 kinetics pattern, with progressive increases from rest to peak of exercise, were also found. Patient also improved breathing pattern and timing of ventilation. This case report demonstrated for the first time that aerobic exercise training might be able to improve PETCO 2 response during exercise in a patient with PH-HF.