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Chinese Journal of Medical Genetics ; (6): 59-66, 2024.
Article in Chinese | WPRIM | ID: wpr-1009354


OBJECTIVE@#To explore the correlation between clinical classification and genotype and prognosis among Chinese children with Very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).@*METHODS@#A Chinese pedigree affected with VLCADD admitted at the First People's Hospital of Yunnan Province in February 2019 was selected as the study subject. The characteristics of disease onset, diagnosis and treatment and prognosis were retrospectively analyzed. Relevant literature was also systematically searched and reviewed.@*RESULTS@#The proband, a 1-year-old boy, had the clinical manifestations of frequently vomiting, hypoglycemia, abnormal liver function and myocardial enzymes. Tandem mass spectrometry screening showed significantly elevated C14, C14:1, C16:1, C16:2, C18 and C14/C8. Genetic testing revealed that he has harbored compound heterozygous variants of the ACADVL gene, namely c.664G>A (p.G222R) and c.1345G>A (p.E449K), which were respectively derived from his father and mother. The child was diagnosed with VLCADD cardiomyopathy type and deceased 2 weeks later. Literature review has identified 60 Chinese children with VLCADD. The clinical classifications were mainly cardiomyopathy type and liver disease type, which accounted for 73.3% (43/60). The combination of ACADVL gene variants were correlated with the clinical classifications of VLCAD. Children with one or two loss-of-function (LOF) mutations showed more severe clinical manifestation and a higher mortality. Cardiomyopathy type had the poorest prognosis, with a mortality rate of 76.9% (20/26). C14:1 may be used as an indicator for the diagnosis of VLCADD, but cannot be used for clinical subtyping and prognosis evaluation. The c.1349G>A (p.R450H) variant had the highest frequency among the Chinese patients, accounting for 10.8% (13/120).@*CONCLUSION@#The clinical classifications of VLCADD are strongly correlated with the prognosis, and LOF mutations are more common in those with severe clinical manifestations. c.1349G>A (p.R450H) may be the most common variant among the Chinese patients, and early screening and diagnosis can greatly improve the prognosis of patients.

Child , Humans , Infant , Male , Cardiomyopathies/genetics , China , Lipid Metabolism, Inborn Errors/genetics , Mitochondrial Diseases/genetics , Muscular Diseases/genetics , Pedigree , Retrospective Studies
Health sci. dis ; 25(2 suppl 1): 42-47, 2024. tables, figures
Article in French | AIM | ID: biblio-1526872


Introduction. La fréquence, la présentation et le devenir de cardiomyopathie du peripartum (CMPP) varient considérablement dans le monde. Au Niger, les données sont inexistantes d'où le but de notre étude qui était de préciser les aspects épidémiologiques, diagnostiques, thérapeutiques et évolutifs de la cardiomyopathie du peripartum (CMPP). Méthodologie. Il s'agit d'une étude rétrospective concernant les patientes hospitalisées pour CMPPau pôle de Cardiologie de l'Hôpital National de Niamey du 01/01/2019 au 31/12/2019. Les facteurs de risque et les aspects épidémiologiques, cliniques, paracliniques, diagnostiques, thérapeutiques et évolutifs ont été étudiés. Résultats. La prévalence hospitalière de la CMPP était de 3,83%. L'âge moyen était de 27,4 ans (extrêmes de 16 et 45 ans). La multiparité a été rapportée chez 79 % des patientes contre 21% qui étaient primipares. La dyspnée était le signe le signe fonctionnel rapporté chez toutes les patientes. Les anomalies échocardiographiques les plus fréquentes étaient l'HVG (75%) et L'HAG (45,83%). L'hypocinésie était diffuse dans 100% des cas. L'altération de la fraction d'éjection du ventricule du ventricule gauche (FEVG) était moyenne dans 50%. Toutes les patientes ont ont eu comme traitement des bétabloquants, des diurétiques et des IEC. L'évolution a été favorable dans 87,5 % des cas. Les principaux facteurs pronostiques péjoratifs étaient la multiparité (79%) une fraction d'éjection du ventricule inférieure à (FEVG)

Introduction. The frequency, presentation and outcome of peripartum cardiomyopathy (PCM) vary considerably throughout the world. In Niger, data are non-existent, hence the aim of our study, which was to clarify the epidemiological, diagnostic, therapeutic and evolutionary aspects of peripartum cardiomyopathy (PPCM). Methodology. This is a retrospective study concerning patients hospitalized for CMPPat the Cardiology pole of the National Hospital of Niamey from 01/01/2019 to 31/12/2019. Risk factors and epidemiological, clinical, paraclinical, diagnostic, therapeutic and evolutionary aspects were studied. Results. The hospital prevalence of CMPP was 3.83%. The mean age was 27.4 years (extremes 16 and 45 years). Multiparity was reported in 79% of patients versus 21% who were primiparous. Dyspnea was the functional sign reported in all patients. The most frequent echocardiographic abnormalities were LVH (75%) and GAH (45.83%). Hypokinesia was diffuse in 100% of cases. Impaired left ventricular ejection fraction (LVEF) was moderate in 50%. All patients were treated with beta-blockers, diuretics and ACE inhibitors. Progression was favorable in 87.5% of cases. The main pejorative prognostic factors were multiparity (79%) lower ventricular ejection fraction (LVEF)

Humans , Female , Peripartum Period , Cardiomyopathies , Epidemiology , Diagnosis
Article in Spanish | LILACS, CUMED | ID: biblio-1536323


Introducción: Una complicación reportada en la infección por SARS-CoV-2 es la miocardiopatía. Se ha descrito que los pacientes pueden presentar un deterioro significativo de la clase funcional, que limita el desempeño en las actividades de la vida diaria, sociales, familiares y laborales. La rehabilitación cardíaca como componente integral es una alternativa de tratamiento no farmacológica en el manejo de secuelas cardiovasculares ocasionadas por SARS-CoV-2. Objetivo: Describir el impacto de la rehabilitación cardíaca integral en un caso de paciente con miocardiopatía por SARS-CoV-2. Caso clínico: Se presenta el caso de un hombre de 56 años de edad con miocardiopatía por SARS-CoV-2 quien realizó rehabilitación cardíaca integral. Conclusiones: La rehabilitación cardíaca con un componente de intervención integral multidisciplinar permitió al paciente mejorar la capacidad aeróbica, sintomatología, calidad de vida relacionada con la salud y reincorporarse a las actividades sociales, familiares y laborales(AU)

Introduction: A reported complication of SARS-CoV-2 infection is cardiomyopathy. It has been described that patients may present with significant impairment of functional class, limiting performance in activities of daily living, social, family and work. Cardiac rehabilitation as an integral component is a non-pharmacological treatment alternative in the management of cardiovascular sequelae caused by SARS-CoV-2. Objective: To describe the impact of comprehensive cardiac rehabilitation in a case of a patient with cardiomyopathy due to SARS-CoV-2. Case report: We present the case of a 56-year-old patient with SARS-CoV-2 cardiomyopathy who underwent comprehensive cardiac rehabilitation. Conclusions: Cardiac rehabilitation with a comprehensive multidisciplinary intervention component allowed the patient to improve aerobic capacity, symptomatology, health-related quality of life and reincorporation to social, family and work activities(AU)

Humans , Male , Middle Aged , Quality of Life , Cardiac Rehabilitation/methods , COVID-19/epidemiology , Cardiomyopathies/complications
Chinese Journal of Pediatrics ; (12): 714-718, 2023.
Article in Chinese | WPRIM | ID: wpr-1013160


Objective: To investigate the feature and treatment of atrial tachycardia (AT) originated from right atrial appendage (RAA) in children. Methods: The data of 42 children with AT originated from RAA, who were admitted the First Hospital of Tsinghua University from January 2010 to September 2022 were analyzed retrospectively.The clinical characteristics, treatment and efficacy were analyzed. The children were divided into tachycardia cardiomyopathy group and normal cardiac function group. The differences in the ablation age and the heart rate during AT between two groups were compared by independent sample t-test. Results: Among 42 children, there were 20 males and 22 females. The age of onset was 2.7 (0.6, 5.1) years. Their age at radiofrequency ablation was (6.5±3.6) years, and the weight was (23.4±10.0) kg. Thirty-two children (76%) had sustained AT. The incidence of tachycardia cardiomyopathy was 43% (18/42). Compared to that of the normal cardiac function group, the ablation age and the heart rate at atrial tachycardia of the tachycardia cardiomyopathy group were higher ((8.1±3.8) vs. (5.3±3.1) years, t=-2.63, P=0.012; (173±41) vs. (150±30) beats per minute, t=-2.05, P=0.047. Thirty-eight children (90%) responded poorly to two or more antiarrhythmic drugs. The immediate success rate of radiofrequency ablation (RFCA) was 57% (24/42), and the AT recurrence rate was 17% (4/24). Twenty-two children underwent RAA resection, and their AT were all converted to sinus rhythm after the surgery. During the RAA resection, 10 cases of right atrial appendage aneurysm were found, 9/18 of which failed the RFCA. Conclusions: The AT originated from the RAA in children tend to present with sustained AT, respond poorly to antiarrhythmic drugs, and has a low success rate of RFCA as well as high recurrence rate. Resection of the RAA is a safe and effective complementary treatment.

Male , Female , Humans , Child , Atrial Appendage/surgery , Anti-Arrhythmia Agents/therapeutic use , Retrospective Studies , Catheter Ablation , Tachycardia/surgery , Treatment Outcome , Cardiomyopathies
Chinese Medical Journal ; (24): 2899-2908, 2023.
Article in English | WPRIM | ID: wpr-1007721


Recent decades have seen the remarkable development of China in medical accessibility and quality index, and the application of a number of new advanced cardiovascular technologies benefits more patients. However, according to the Annual Report on Cardiovascular Health and Diseases in China published in this article, which was organized and summarized by National Center for Cardiovascular Diseases, there is still a huge population living with risk factors of cardiovascular diseases (CVD), and the morbidity and mortality of CVD are increasing. It is estimated that there are around 330 million patients suffering from CVD currently, including 245 million of hypertension, 13 million of stroke, 45.3 million of peripheral artery disease, 11.39 million of coronary heart disease (CHD), 8.9 million of heart failure, 5 million of pulmonary heart disease, 4.87 million of atrial fibrillation, 2.5 million of rheumatic heart disease, and 2 million of congenital heart disease. Tobacco use, diet and nutrition factors, physical activity, overweight and obesity, and psychological factors are what affect cardiovascular health, while hypertension, dyslipidemia, diabetes, chronic kidney disease, metabolic syndrome, and air pollution are the risk factors for CVD. In this article, in addition to risk factors for CVD, we also report the epidemiological trends of CVD, including CHD, cerebrovascular disease, arrhythmias, valvular heart disease, congenital heart disease, cardiomyopathy, heart failure, pulmonary vascular disease and venous thromboembolism, and aortic and peripheral artery diseases, as well as the basic research and medical device development in CVD. In a word, China has entered a new stage of transforming from high-speed development focusing on scale growth to high-quality development emphasizing on strategic and key technological development to curb the trend of increasing incidence and mortality of CVD.

Humans , Cardiovascular Diseases/etiology , Hypertension/complications , Risk Factors , Cardiomyopathies , Heart Failure/complications , Heart Defects, Congenital/complications , Coronary Disease , Atrial Fibrillation/complications
Chinese Journal of Medical Genetics ; (6): 161-165, 2023.
Article in Chinese | WPRIM | ID: wpr-970897


OBJECTIVE@#To analyze the blood free carnitine (C0) level and SLC22A5 gene variants in 17 neonates with Primary carnitine deficiency (PCD) and to determine its incidence in local area and explore the correlation between C0 level and genotype.@*METHODS@#148 043 newborns born in 9 counties (cities and districts) of Ningde city from September 2016 to June 2021 were selected as study subjects. Blood free carnitine and acyl carnitine of 148 043 neonates were analyzed. Variants of the SLC22A5 gene were screened in those with blood C0 < 10 µmol/L, or C0 between 10 ∼ 15 µmol/L. Correlation between the free carnitine level and genetic variants was analyzed.@*RESULTS@#In total 17 neonates were diagnosed with PCD, which yielded a prevalence of 1/8 707 in the region. Twelve variants of the SLC22A5 gene were identified, with the common ones including c.760C>T, c.1400C>G and c.51C>G. Compared with those carrying other variants of the gene, children carrying the c.760C>T variant had significantly lower C0 values (P < 0.01).@*CONCLUSION@#The prevalence of PCD is relatively high in Ningde area, and intervention measures should be taken to prevent and control the disease. The c. 760C>T variant is associated with lower level of C0, which can provide a clue for the diagnosis.

Humans , Infant, Newborn , Cardiomyopathies/diagnosis , Carnitine , Hyperammonemia/diagnosis , Muscular Diseases/genetics , Solute Carrier Family 22 Member 5/genetics
Chinese Critical Care Medicine ; (12): 620-626, 2023.
Article in Chinese | WPRIM | ID: wpr-982643


OBJECTIVE@#To investigate the value of maximal rate of left ventricular pressure (dp/dtmax) in evaluating the changes of cardiac function before and after heart rate reduction in patients with sepsis-induced cardiomyopathy (SIC).@*METHODS@#A single-center, prospective randomized controlled study was conducted. Adult patients with sepsis/septic shock admitted to the department of intensive care unit (ICU) of Tianjin Third Central Hospital from April 1, 2020 to February 28, 2022 were enrolled. Speckle tracking echocardiography (STE) and pulse indication continuous cardiac output (PiCCO) monitoring were performed immediately after the completion of the 1 h-Bundle therapy. The patients with heart rate over 100 beats/minutes were selected and randomly divided into esmolol group and regular treatment group, 55 cases in each group. All patients underwent STE and PiCCO monitoring at 6, 24 and 48 hours after admission in ICU and calculated acute physiology and chronic health evaluation II (APACHE II) and sequential organ failure assessment (SOFA). Primary outcome measure: change in dp/dtmax after reducing heart rate by esmolol. Secondary outcome measures: correlation between dp/dtmax and global longitudinal strain (GLS); changes of vasoactive drug dosage, oxygen delivery (DO2), oxygen consumption (VO2) and stroke volume (SV) after the administration of esmolol; proportion of heart rate reaching the target after the administration of esmolol; 28-day and 90-day mortality in two groups.@*RESULTS@#Baseline data on age, gender, body mass index, SOFA score, APACHE II score, heart rate, mean arterial pressure, lactic acid, 24-hour fluid balance, sepsis etiology and prior comorbidities were similar between esmolol group and regular treatment group, there were no significant differences between the two groups. All SIC patients achieved the target heart rate after 24 hours of esmolol treatment. Compared with regular treatment group, parameters reflecting myocardial contraction such as GLS, global ejection fraction (GEF) and dp/dtmax were significantly increased in esmolol group [GLS: (-12.55±4.61)% vs. (-10.73±4.82)%, GEF: (27.33±4.62)% vs. (24.18±5.35)%, dp/dtmax (mmHg/s): 1 312.1±312.4 vs. 1 140.9±301.0, all P < 0.05], and N-terminal pro-brain natriuretic peptide (NT-proBNP) significantly decreased [μg/L: 1 364.52 (754.18, 2 389.17) vs. 3 508.85 (1 433.21, 6 988.12), P < 0.05], DO2 and SV were significantly increased [DO2 (mL×min-1×m-2): 647.69±100.89 vs. 610.31±78.56, SV (mL): 49.97±14.71 vs. 42.79±15.77, both P < 0.05]. The system vascular resistance index (SVRI) in esmolol group was significantly higher than that in regular treatment group (kPa×s×L-1: 287.71±66.32 vs. 251.17±78.21, P < 0.05), even when the dosage of norepinephrine was similar between the two groups. Pearson correlation analysis showed that dp/dtmax was negatively correlated with GLS in SIC patients at 24 hours and 48 hours after ICU admission (r values were -0.916 and -0.935, respectively, both P < 0.05). Although there was no significant difference in 28-day mortality between esmolol group and regular treatment group [30.9% (17/55) vs. 49.1% (27/55), χ2 = 3.788, P = 0.052], the rate of esmolol use in patients who died within 28 days was lower than that in patients who survived [38.6% (17/44) vs. 57.6% (38/66), χ2 = 3.788, P = 0.040]. In addition, esmolol has no effect on the 90-day mortality of patients. Logistic regression analysis showed that after adjusting for SOFA score and DO2 factors, patients who used esmolol had a significantly lower risk of 28-day mortality compared with patients who did not use esmolol [odds ratio (OR) = 2.700, 95% confidence interval (95%CI) was 1.038-7.023, P = 0.042].@*CONCLUSIONS@#dp/dtmax in PiCCO parameter can be used as a bedside indicator to evaluate cardiac function in SIC patients due to its simplicity and ease of operation. Esmolol control of heart rate in SIC patients can improve cardiac function and reduce short-term mortality.

Adult , Humans , Prospective Studies , Ventricular Pressure , Sepsis/complications , Shock, Septic/drug therapy , Cardiomyopathies/etiology , Prognosis
Chinese Journal of Cardiology ; (12): 51-57, 2023.
Article in Chinese | WPRIM | ID: wpr-969742


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.

Adolescent , Child , Female , Humans , Male , Cardiomyopathies/etiology , Glycogen Storage Disease Type IIb/complications , Hypertrophy, Left Ventricular/etiology , Lysosomal-Associated Membrane Protein 2/genetics , Pre-Excitation Syndromes/genetics
Chinese Journal of Pathology ; (12): 671-677, 2023.
Article in Chinese | WPRIM | ID: wpr-985756


Objective: To investigate the histological features and clinical manifestations in different types of cardiac amyloidosis to improve diagnostic accuracy. Methods: The histopathological features and clinical manifestations of 48 patients diagnosed with cardiac amyloidosis by Congo red stain and electron microscopy through endomyocardial biopsy were collected in West China Hospital of Sichuan University from January 2018 to December 2021. Immunohistochemical stains for immunoglobulin light chains (κ and λ) and transthyretin protein were carried out, and a review of literature was made. Results: The patients age ranged from 42 to 79 years (mean 56 years) and the male to female ratio was 1.1 to 1.0. The positive rate of endomyocardial biopsy was 97.9% (47/48), which was significantly higher than that of the abdominal wall fat (7/17). Congo red staining and electron microscopy were positive in 97.9% (47/48) and 93.5% (43/46), respectively. Immunohistochemical stains showed 32 cases (68.1%) were light chain type (AL-CA), including 31 cases of AL-λ type and 1 case of AL-κ type; 9 cases (19.1%) were transthyretin protein type (ATTR-CA); and 6 cases (12.8%) were not classified. There was no significant difference in the deposition pattern of amyloid between different types (P>0.05). Clinical data showed that ATTR-CA patients had less involvement of 2 or more organs and lower N-terminal pro-B-type natriuretic peptide (NT-proBNP) than the other type patients (P<0.05). The left ventricular stroke volume and right ventricular ejection fraction of ATTR-CA patients were better than the other patients (P<0.05). Follow-up data of 45 patients was obtained, and the overall mean survival time was 15.6±2.0 months. Univariate survival analysis showed that ATTR-CA patients had a better prognosis, while cardiac amyloidosis patients with higher cardiac function grade, NT-proBNP >6 000 ng/L, and troponin T >70 ng/L had a worse prognosis (P<0.05). Multivariate survival analysis showed that NT-proBNP and cardiac function grade were independent prognostic factors for cardiac amyloidosis patients. Conclusions: AL-λ is the most common type of cardiac amyloidosis in this group. Congo red staining combined with electron microscopy can significantly improve the diagnosis of cardiac amyloidosis. The clinical manifestations and prognosis of each type are different and can be classified based on immunostaining profile. However, there are still a few cases that cannot be typed; hence mass spectrometry is recommended if feasible.

Humans , Male , Female , Adult , Middle Aged , Aged , Prealbumin/metabolism , Stroke Volume , Cardiomyopathies/pathology , Congo Red , Ventricular Function, Right , Amyloidosis/pathology , Prognosis
Chinese Journal of Cardiology ; (12): 521-525, 2023.
Article in Chinese | WPRIM | ID: wpr-984684


Objectives: This study sought to describe our institutional experience of repeated percutaneous stellate ganglion blockade (R-SGB) as a treatment option for drug-refractory electrical storm in patients with nonischemic cardiomyopathy (NICM). Methods: This prospective observational study included 8 consecutive NICM patients who had drug-refractory electrical storm and underwent R-SGB between June 1, 2021 and January 31, 2022. Lidocaine (5 ml, 1%) was injected in the vicinity of the left stellate ganglion under the guidance of ultrasound, once per day for 7 days. Data including clinical characteristics, immediate and long-term outcomes, and procedure related complications were collected. Results: The mean age was (51.5±13.6) years. All patients were male. 5 patients were diagnosed as dilated cardiomyopathy, 2 patients as arrhythmogenic right ventricular cardiomyopathy and 1 patient as hypertrophic cardiomyopathy. The left ventricular ejection fraction was 37.8%±6.6%. After the treatment of R-SGB, 6 (75%) patients were free of electrical storm. 24 hours Holter monitoring showed significant reduction in ventricular tachycardia (VT) episodes from 43.0 (13.3, 276.3) to 1.0 (0.3, 34.0) on the first day following R-SGB (P<0.05) and 0.5 (0.0, 19.3) after whole R-SGB process (P<0.05). There were no procedure-related major complications. The mean follow-up was (4.8±1.1) months, and the median time of recurrent VT was 2 months. Conclusion: Minimally invasive R-SGB is a safe and effective method to treat electrical storm in patients with NICM.

Humans , Male , Adult , Middle Aged , Aged , Female , Stroke Volume , Stellate Ganglion/surgery , Ventricular Function, Left , Cardiomyopathies/complications , Tachycardia, Ventricular/therapy , Treatment Outcome , Catheter Ablation
Rev. chil. cardiol ; 41(2): 119-129, ago. 2022. tab, ilus
Article in Spanish | LILACS | ID: biblio-1407759


Resumen: La Miocardiopatía Periparto es una patología que se presenta como una insuficiencia cardíaca aguda que aparece en el último mes del embarazo o los primeros 5 meses post parto, en ausencia de otra causa identificable. A pesar de ser más frecuente en países Afrodescendientes, el efecto migratorio ha provocado un aumento en su incidencia en los países de América latina, influyendo en la morbimortalidad materna. Si bien su etiología aún no está claramente definida, se han propuesto algunos mecanismos como el aumento del estrés oxidativo, el desequilibrio de la angiogénesis y las reacciones inflamatorias que, en un organismo genéticamente predispuesto, podrían ser los desencadenantes de esta enfermedad. Su manejo aún se considera de soporte, pero se sigue investigando en alternativas terapéuticas que puedan mejorar los resultados a largo plazo. Así, el motivo de esta revisión es evaluar la evidencia disponible hasta el momento, para el enfrentamiento del equipo tratante de estas pacientes.

Abstract: Peripartum Cardiomyopathy is a diseae presenting as acute heart failure that appears in the last month of pregnancy or within 5 months postpartum, in the absence of other identifiable cause. Despite being more frequent in Afro-descendant populations, the migratory effect has caused an increase in its incidence in Latin American countries, influencing maternal morbidity and mortality. Although its etiology is not yet defined, some mechanisms have been proposed such as increased oxidative stress, angiogénesis imbalance and inflammatory reactions that in a genetically predisposed organism, could be the triggers of this disease. Supportive therapy is still the initial management. Therapeutical alternatives that are still being investigated. The main purpose of this review is to evaluate the evidence available to improve the prognosis of the disease.

Humans , Pregnancy Complications, Cardiovascular/diagnosis , Pregnancy Complications, Cardiovascular/therapy , Cardiomyopathies/diagnosis , Cardiomyopathies/therapy , Pregnancy , Heart Failure/etiology , Heart Failure/therapy
Rev. urug. cardiol ; 37(1): e305, jun. 2022. ilus
Article in Spanish | UY-BNMED, LILACS, BNUY | ID: biblio-1415362


La amiloidosis cardíaca es una entidad con creciente reconocimiento, la variedad por transtiretina es la que más se diagnostica en la tercera edad de la vida. Hay reciente disponibilidad de fármacos que mejoran el pronóstico y la calidad de vida de los pacientes. Presentamos un caso de amiloidosis por transtiretina donde se usó por primera vez en nuestro país el fármaco tafamidis aprobado para el tratamiento de esta enfermedad.

Cardiac amyloidosis is an entity on increasing recognition, transthyretin variety is the most diagnosed in the third age. There is a recent availability of drugs that can improve the prognosis and quality of life of these patients. We present a case of transthyretin amyloidosis and the first use of tafamidis in our country.

A amiloidose cardíaca é uma entidade em crescente reconhecimento, a variedade transtiretina é a mais diagnosticada em idosos. Há disponibilidade recente de medicamentos que melhoram o prognóstico e a qualidade de vida dos pacientes. Apresentamos um caso de amiloidosis transteretina onde o medicamento tafamidis aprovado para esta doença foi utilizado pela primeira vez em nosso país.

Humans , Male , Aged , Benzoxazoles/administration & dosage , Amyloidosis/diagnostic imaging , Cardiomyopathies , Amyloidosis/drug therapy
Rev. urug. cardiol ; 37(1): e302, jun. 2022. ilus, tab
Article in Spanish | LILACS, UY-BNMED, BNUY | ID: biblio-1390042


Las amiloidosis son enfermedades causadas por el depósito patológico extracelular de un material proteico fibrilar e insoluble denominado amiloide, que puede estar vinculado a cadenas livianas (AL) o transtirretina (TTR). La amiloidosis cardíaca provoca una cardiomiopatía restrictiva de carácter progresivo caracterizada por falla cardíaca con función sistólica relativamente preservada, que se asocia a elevada mortalidad. Aunque el diagnóstico definitivo tradicionalmente se basa en la biopsia endomiocárdica, los avances en imagenología han mejorado su abordaje y la reciente introducción de terapias especificas permiten augurar cambios significativos en el pronóstico. El tratamiento difiere según el tipo de amiloide involucrado y su resultado depende de la instauración precoz de este, por lo cual resulta esencial un diagnóstico preciso y temprano. El centellograma cardíaco con fosfatos marcados (99mTc-PYP u otros), ampliamente disponible y de relativo bajo costo, se considera en la actualidad como una "biopsia molecular no invasiva" para el diagnóstico de la amiloidosis tipo ATTR, que debe ser usado en conjunto con la investigación de proteínas monoclonales en pacientes con sospecha clínica de la enfermedad.

Amyloidoses are diseases caused by the extracellular deposition of a fibrillar and insoluble protein material called amyloid, which can be linked either to light chains (AL) or transthyretin (TTR). Cardiac amyloidosis causes a progressive restrictive cardiomyopathy characterized by heart failure with relatively preserved systolic function, which is associated with high mortality. Although a definitive diagnosis is traditionally based on endomyocardial biopsy, advances in cardiac imaging have improved its approach, and the recent introduction of specific therapies predicts significant changes in prognosis. Since treatment differs according to the type of amyloid involved and the results depend on a prompt implementation, an accurate and early diagnosis is essential. Cardiac scintigraphy with labeled phosphates (99mTc-PYP or others), widely available and relatively inexpensive, is currently considered a "noninvasive molecular biopsy" for the diagnosis of ATTR type amyloidosis, which should be used in conjunction with investigation of monoclonal proteins in patients with clinical suspicion of the disease.

As amiloidoses são doenças causadas pela deposição patológica extracelular de um material proteico fibrilar e insolúvel, denominado amiloide, que pode estar ligado a cadeias leves (AL) ou transtirretina (TTR). A amiloidose cardíaca causa cardiomiopatia restritiva progressiva caracterizada por insuficiência cardíaca com função sistólica relativamente preservada, que está associada a alta mortalidade. Embora o diagnóstico definitivo seja tradicionalmente baseado na biópsia endomiocárdica, os avanços nos exames de imagem aprimoraram sua abordagem e a recente introdução de terapias específicas pode predizer mudanças significativas no prognóstico. O tratamento varia de acordo com o tipo de amiloide envolvida e seu resultado depende do início precoce, por isso um diagnóstico preciso e precoce é essencial. A cintilografia cardíaca com fosfatos marcados (99mTc-PYP ou outros), amplamente disponível e relativamente econômico, é atualmente considerada uma "biópsia molecular não invasiva" para o diagnóstico de amiloidose do tipo ATTR, que deve ser usada em conjunto com a investigação de proteínas monoclonais em pacientes com suspeita clínica da doença.

Humans , Radionuclide Imaging/methods , Technetium Tc 99m Pyrophosphate , Radiopharmaceuticals , Amyloidosis/diagnostic imaging , Cardiomyopathies/diagnostic imaging , Radioactive Tracers , Predictive Value of Tests
Rev. urug. cardiol ; 37(1): e403, jun. 2022. tab, ilus
Article in Spanish | LILACS, UY-BNMED, BNUY | ID: biblio-1390043


Dada su epidemiología, la amiloidosis cardíaca se ha vuelto un desafío diagnóstico del siglo XXI. La resonancia cardíaca se ha transformado en una herramienta diagnóstica y pronóstica fundamental en la práctica clínica diaria. En este artículo de revisión resumimos el conocimiento, primero abordando la técnica en sí, desde protocolos generales a específicos para su diagnóstico. Posteriormente, y tomando estas herramientas, sistematizamos la utilidad diagnóstica, pronóstica y terapéutica, con base en la practicidad y evidencia científica más recientes, otorgando la posibilidad de utilizar y abordar desde un correcto diagnóstico por imagen diferentes aspectos de esta enfermedad prevalente.

Given its epidemiology, cardiac amyloidosis has become a diagnostic challenge of the twenty-first century. Cardiac resonance has become a fundamental diagnostic and prognostic tool in daily clinical practice. In this review article we summarize the knowledge, first addressing the technique itself, from general to specific protocols for its diagnosis. Subsequently, and taking this tool we systematize the diagnostic, prognostic, and therapeutic utility, based on the most recent practicality and scientific evidence, granting the possibility of using and addressing from a correct diagnostic imaging different aspect of this prevalent disease.

Dada a sua epidemiologia, a amiloidose cardíaca tornou-se um desafio do século XXI. A ressonância cardíaca tornou-se uma ferramenta diagnóstica e prognóstico fundamental na prática clínica diária. Neste artigo de revisão resumimos primeiro o conhecimento abordando a própria técnica, desde protocolos gerais até específicos para seu diagnóstico. Posteriormente, e tomando essa ferramenta sistematizamos a utilidade diagnóstica, prognóstica e terapêutica, com base na praticidade e evidência científica mais recentes, concedendo a possibilidade de utilização e abordagem de uma imagem diagnóstica correta de diferentes aspectos desta doença prevalente.

Humans , Magnetic Resonance Imaging , Amyloidosis/diagnostic imaging , Cardiomyopathies/diagnostic imaging
China Journal of Chinese Materia Medica ; (24): 1327-1335, 2022.
Article in Chinese | WPRIM | ID: wpr-928059


Protective effect of Qilong Capsules(QL) on the myocardial fibrosis and blood circulation of rats with coronary heart disease of Qi deficiency and blood stasis type was investigated. Sleep deprivation and coronary artery ligation were used to construct a disease-symptom combination model, and 60 SD rats were divided into sham operation(sham) group, syndrome(S) group, disease and syndrome(M) group and QL group randomly. The treatment group received administration of QL 0.4 g·kg~(-1)·d~(-1). Other groups were given the same amount of normal saline. The disease indexes of each group [left ventricular end diastolic diameter(LVESD), left ventricular end systolic diameter(LVEDD), left ventricular ejection fraction(LVEF), left ventricular axis shortening rate(LVFS), myocardial histopathology, platelet morphology, peripheral blood flow] and syndrome indexes(tongue color, pulse, grip power) were detected. In sham group, cardiomyocytes and myocardial fibers were arranged neatly and densely with clear structures. The tongues' color in sham were light red, and the pulse shape were regular. RGB is a parameter reflected the brightness of the image of the tongue. In the S group, the amplitude and frequency of the animal's pulse increased accompanied by decreasing R,G,B, however, the decreased R,G,B was accompanied by reduced pulse amplitude in M group. And in M group, we observed fuzzy cell morphology, hypertrophied myocytes, disordered arrangement of cardiomyocytes and myocardial fibers, reduced peripheral blood flow and increased collagen volume fraction(CVF). Increased LVESD and LVEDD, and decreased LVEF and LVFS represented cardiac function in S group was significantly lower than that in sham. In QL group, the tongue's color was red and the pulse was smooth. The myocardial fibers of the QL group were arranged neatly and secreted less collagen. It improved the blood circulation in the sole and tail, and reversed the increasing of LVEDD, LVESD and the decreasing of LVEF and LVFS of M group. Platelets in M and S group showed high reactivity, and QL could decrease aggregation risk. In conclusion, Qilong Capsules has an obvious myocardial protective effect on ischemic cardiomyopathy, which may inhibit the degree of myocardial fibrosis and reduce platelet reactivity.

Animals , Rats , Capsules , Cardiomyopathies/drug therapy , Fibrosis , Myocytes, Cardiac , Qi , Rats, Sprague-Dawley , Stroke Volume , Ventricular Function, Left
Chinese Journal of Cardiology ; (12): 549-555, 2022.
Article in Chinese | WPRIM | ID: wpr-940887


Objective: To investigate the acute and long-term outcome of catheter ablation for the treatment of ventricular tachycardia (VT) in patients with arrhythmogenic left ventricular cardiomyopathy (ALVC). Methods: This retrospective, cross-sectional study enrolled ALVC patients undergoing radiofrequency ablation for the treatment of VT at the First Affiliated Hospital of Nanjing Medical University from January 2011 to December 2018 and collected their clinical characteristics and intraoperative electrophysiological examination. Patients were followed up every 6 months after radiofrequency ablation until August 2021. Echocardiographic results and VT recurrence post radiofrequency ablation were analysed. Results: Totally 12 patients were enrolled (mean age: (42±15) years, 11 males(11/12)). The mean of left ventricular end diastolic diameter (LVDd) and left ventricular ejection fraction (LVEF) were (51±5)mm and (65±5)%, respectively. Twelve VTs were induced in 10 patients during the electrophysiological study, and the mean tachycardia cycle length was (293±65) ms. Three-dimensional substrate mapping revealed the diseased area at endocardial site in one patient, at epicardial sites in the other 11 patients (involved endocardial sites in 2 cases) with the basal part near the mitral annulus being the predilection for the substrate (10/11). After the catheter ablation at the endocardial and epicardial sites respectively, the complete procedure endpoint was achieved in all patients (VT cannot be induced post ablation). The median follow-up time was 65 (25, 123) months. One patient was lost to follow-up, and the other 11 patients survived without VT. No significant cardiac function deterioration was detected by the echocardiographic examination ((51±5)mm vs. (52±5)mm, P>0.05 for LVDd, (65±5)% vs. (60±6)%, P>0.05 for LVEF) at the end of follow-up. Conclusion: After radiofrequency ablation, the complete procedure endpoint is achieved in ALVC patients, and the catheter ablation provides long-term ventricular tachycardia control during the long-term follow-up.

Adult , Humans , Male , Middle Aged , Cardiomyopathies , Catheter Ablation , Cross-Sectional Studies , Follow-Up Studies , Pericardium/surgery , Recurrence , Retrospective Studies , Stroke Volume , Tachycardia, Ventricular/surgery , Treatment Outcome , Ventricular Function, Left
Journal of Central South University(Medical Sciences) ; (12): 1733-1739, 2022.
Article in English | WPRIM | ID: wpr-971358


Heart failure with preserved ejection fraction (HFpEF) is a syndrome with highly heterogeneous clinical symptoms, and its incidence has been increasing in recent years. Compared with heart failure with reduced ejection fraction (HFrEF), HFpEF has a worse prognosis. Traditional therapies targeting the internal mechanisms of the heart show limited or inefficacy on HFpEF, and new therapeutic targets for HFpEF are expected to be found by focusing on the extracardiac mechanisms. Recent studies have shown that cardiopulmonary pathophysiological interaction exacerbates the progression of HFpEF. Hypertension, systemic vascular injury, and inflammatory response lead to coronary microvascular dysfunction, myocardial hypertrophy, and coronary microvascular remodeling. Acute kidney injury affects myocardial energy production, induces oxidative stress and catabolism of myocardial protein, which leads to myocardial dysfunction. Liver fibrosis mediates heart injury by abnormal protein deposition and inflammatory factors production. Skeletal muscle interacts with the sympathetic nervous system by metabolic signals. It also produces muscle factors, jointly affecting cardiac function. Metabolic syndrome, gut microbiota dysbiosis, immune system diseases, and iron deficiency promote the occurrence and development of HFpEF through metabolic changes, oxidative stress, and inflammatory responses. Therefore, the research on the extracardiac mechanisms of HFpEF has certain implications for model construction, mechanism research, and treatment strategy formulation.

Humans , Heart Failure/diagnosis , Stroke Volume/physiology , Myocardium/metabolism , Cardiomyopathies/metabolism , Hypertension , Ventricular Function, Left
Hepatología ; 3(2): 131-142, 2022. Ilus
Article in Spanish | LILACS, COLNAL | ID: biblio-1395966


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.

Humans , Liver Cirrhosis , Cardiomyopathies , Systole , Transplantation , Blood Circulation , Diastole
Arq. bras. cardiol ; 118(2): 422-432, 2022. tab, graf
Article in English, Portuguese | LILACS | ID: biblio-1364337


Resumo Fundamento Amiloidose sistêmica é uma doença com manifestações clínicas diversas. O diagnóstico envolve suspeita clínica, aliada a métodos complementares. Objetivo Descrever o perfil clínico, laboratorial, eletrocardiográfico e de imagem no acometimento cardíaco da amiloidose sistêmica. Métodos Estudo de uma amostra de conveniência, analisando dados clínicos, laboratoriais, eletrocardiográficos, ecocardiográficos, medicina nuclear e ressonância magnética. Considerou-se significância estatística quando p < 0,05. Resultados Avaliaram-se 105 pacientes (com mediana de idade de 66 anos), sendo 62 homens, dos quais 83 indivíduos apresentavam amiloidose por transtirretina (ATTR) e 22 amiloidose por cadeia leve (AL). Na ATTR, 68,7% eram de caráter hereditário (ATTRh) e 31,3% do tipo selvagem (ATTRw). As mutações mais prevalentes foram Val142Ile (45,6%) e Val50Met (40,3%). O tempo de início dos sintomas ao diagnóstico foi 0,54 e 2,15 anos nas formas AL e ATTR (p < 0,001), respectivamente. O acometimento cardíaco foi observado em 77,9% dos ATTR e 90,9% dos AL. Observaram-se alterações de condução atrioventricular em 20% e intraventricular em 27,6% dos pacientes, sendo 33,7 % na ATTR e 4,5% das AL (p = 0,006). A forma ATTRw apresentou mais arritmias atriais que os ATTRh (61,5% x 22,8%; p = 0,001). Ao ecocardiograma a mediana da espessura do septo na ATTRw x ATTRh x AL foi de 15 mm x 12 mm x 11 mm (p = 0,193). Observou-se BNP elevado em 89,5% dos indivíduos (mediana 249 ng/mL, IQR 597,7) e elevação da troponina em 43,2%. Conclusão Foi possível caracterizar, em nosso meio, o acometimento cardíaco na amiloidose sistêmica, em seus diferentes subtipos, através da história clínica e dos métodos diagnósticos descritos.

Abstract Background Systemic amyloidosis is a disease with heterogeneous clinical manifestations. Diagnosis depends on clinical suspicion combined with specific complementary methods. Objective To describe the clinical, laboratory, electrocardiographic, and imaging profile in patients with systemic amyloidosis with cardiac involvement. Methods This study was conducted with a convenience sample, analyzing clinical, laboratory, electrocardiographic, echocardiographic, nuclear medicine, and magnetic resonance data. Statistical significance was set at p < 0.05. Results A total of 105 patients were evaluated (median age of 66 years), 62 of whom were male. Of all patients, 83 had transthyretin (ATTR) amyloidosis, and 22 had light chain (AL) amyloidosis. With respect to ATTR cases, 68.7% were the hereditary form (ATTRh), and 31.3% were wild type (ATTRw). The most prevalent mutations were Val142Ile (45.6%) and Val50Met (40.3%). Time from onset of symptoms to diagnosis was 0.54 and 2.15 years, in the AL and ATTR forms, respectively (p < 0.001). Cardiac involvement was observed in 77.9% of patients with ATTR and in 90.9% of those with AL. Alterations were observed in atrioventricular and intraventricular conduction in 20% and 27.6% of patients, respectively, with 33.7% in ATTR and 4.5% in AL (p = 0.006). In the ATTRw form, there were more atrial arrhythmias than in ATTRh (61.5% versus 22.8%; p = 0.001). On echocardiogram, median septum thickness in ATTRw, ATTRh, and AL was 15 mm, 12 mm, and 11 mm, respectively (p = 0.193). Elevated BNP was observed in 89.5% of patients (median 249, ICR 597.7), and elevated troponin was observed in 43.2%. Conclusion In this setting, it was possible to characterize cardiac involvement in systemic amyloidosis in its different subtypes by means of clinical history and the diagnostic methods described.

Humans , Male , Female , Adult , Cardiology , Amyloid Neuropathies, Familial/diagnostic imaging , Amyloidosis/diagnostic imaging , Cardiomyopathies/diagnostic imaging , Referral and Consultation , Brazil , Prealbumin/genetics , Echocardiography