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Pubblicazioni recenti - dilated cardiomyopathy
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Efficacy of ivabradine in HIV-associated dilated cardiomyopathy.
Recenti Prog Med2021 Apr;112(4):311-314. doi: 10.1701/3584.35690.
Mastroianni Antonio, Guadagnino Giuliana, Vangeli Valeria, Greco Sonia, Urso Filippo,
Abstract
Ivabradine is a pure heart rate-lowering drug that acts directly on the sinus node and does not affect atrioventricular or intraventricular conduction times, myocardial contractility or ventricular repolarization. Ivabradine is used in the treatment of adults with New York Heart Association (NYHA) class II-IV chronic heart failure (CHF) with systolic dysfunction, in sinus rhythm, with a heart rate of ?75 beats per minute (bpm). This report describes the beneficial effect of ivabradine on clinical parameters in a HIV-infected patient with dilated cardiomyopathy presenting with NYHA class III CHF symptoms. Ivabradine improved functional capacity and left ventricular (LV) systolic function in our patient with HIV-related dilated cardiomyopathy and CHF. This report also lists the summaries of potential clinically significant interaction, likely to require additional monitoring, alteration of drug dosage or timing of administration, between ivabradine and antiretroviral drugs.
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Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy.
Circulation2021 Apr;():. doi: 10.1161/CIRCULATIONAHA.120.052395.
Goli Rahul, Li Jian, Brandimarto Jeff, Levine Lisa D, Riis Valerie, McAfee Quentin, DePalma Steven, Haghighi Alireza, Seidman J G, Seidman Christine E, Jacoby Daniel, Macones George, Judge Daniel P, Rana Sarosh, Margulies Kenneth B, Cappola Thomas P, Alharethi Rami, Damp Julie, Hsich Eileen, Elkayam Uri, Sheppard Richard, Alexis Jeffrey D, Boehmer John, Kamiya Chizuko, Gustafsson Finn, Damm Peter, Ersbřll Anne S, Goland Sorel, Hilfiker-Kleiner Denise, McNamara Dennis M, Arany Zolt, ,
Abstract
Peripartum cardiomyopathy (PPCM) occurs in approximately 1:2000 deliveries in the US and worldwide. The genetic underpinnings of PPCM remain poorly defined. Approximately 10% of women with PPCM harbor truncating variants in (TTNtvs). Whether mutations in other genes can predispose to PPCM is not known. It is also not known if the presence of TTNtvs predicts clinical presentation or outcomes. Nor is it known if the prevalence of TTNtvs differs in women with PPCM and preeclampsia, the strongest risk factor for PPCM. Women with PPCM were retrospectively identified from several US and international academic centers, and clinical information and DNA samples were acquired. Next-generation sequencing was performed on 67 genes, including , and evaluated for burden of truncating and missense variants. The impact of TTNtvs on severity of clinical presentation, and on clinical outcomes, was evaluated. 469 women met inclusion criteria. 10.4% of women with PPCM bore TTNtvs (Odds ration [OR]=9.4 compared with 1.2% in reference population; Bonferroni-corrected P [P*] =1.2x10). We additionally identified overrepresentation of truncating variants in FLNC (OR=24.8, P*=7.0x10), DSP (OR=14.9, P*=1.0x10-8), and BAG3 (OR=53.1, P*=0.02), genes not previously associated with PPCM. This profile is highly similar to that found in non-ischemic dilated cardiomyopathy (DCM). Women with TTNtvs had lower left ventricular ejection fraction (LVEF) on presentation than did women without TTNtvs (23.5% vs 29%, P=2.5x10), but did not differ significantly in timing of presentation after delivery, in prevalence of preeclampsia, or in rates of clinical recovery. This study provides the first extensive genetic and phenotypic landscape of PPCM, and demonstrates that predisposition to heart failure is an important risk factor for PPCM. The work reveals a degree of genetic similarity between PPCM and DCM, suggesting that gene-specific therapeutic approaches being developed for DCM may also apply to PPCM, and that approaches to genetic testing in PPCM should mirror those taken in DCM. Finally, the clarification of genotype/phenotype associations has important implications for genetic counseling.
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[Causes of death and influencing factors of atrial fibrillation patients undergoing anticoagulation therapy].
Zhonghua Xin Xue Guan Bing Za Zhi2021 Apr;49(4):353-359. doi: 10.3760/cma.j.cn112148-20201213-01033.
Hua C, Jiang C, He L, Jia Z X, Lyu W H, Tang R B, Sang C H, Long D Y, Dong J Z, Ma C S, Du X,
Abstract
To investigate the causes of death and predictors in patients with nonvalvular atrial fibrillation (AF) undergoing anticoagulation therapy. Consecutive anticoagulated nonvalvular AF patients were recruited from the China Atrial Fibrillation Registry (China-AF) Study from August 2011 to December 2018. After exclusion of patients with hypertrophic cardiomyopathy, dilated cardiomyopathy, or loss of follow-up within 1 year, 2 248 patients were included in this analysis. Enrolled patients were followed up were followed up for 3 and 6 months, and then every 6 months. The primary endpoint was death, including cardiovascular death, non-cardiovascular death and undetermined death. The patients were divided into survival group and death group according to the survival status after follow-up. Clinical information such as age and sex was collected. Cox proportional hazards regression was performed to identify associated risk factors for all-cause mortality, and Fine-Gray competing risk model was used to identify associated risk factors for cardiovascular mortality. A total of 2 248 patients with atrial fibrillation receiving anticoagulant therapy died over a mean follow-up of (42±24) months, mean age was (67±10) years old and 41.1% (923/2 248) patients were female. The mortality rate was 2.8 deaths per 100 patient-years. The most common cause of death was cardiovascular deaths, accounted for 55.0% (120/218). Worsening heart failure was the most common cause of cardiovascular deaths (18.3% (40/218)), followed by bleeding events (12.9% (28/218)) and ischemic stroke (8.7% (19/218)). Multivariate Cox regression analysis showed that age ( = 1.05, 95%CI 1.04-1.07, <0.001), anemia ( = 1.81, 95% 1.02-3.18, = 0.041), heart failure (=2.40, 95% 1.75-3.30, <0.001), ischemic stroke/transient ischemic attack (TIA)( = 1.59, 95%CI 1.21-2.13, = 0.001) and myocardial infarction ( = 2.93, 95%CI 1.79-4.81, <0.001) were independently associated with all-cause death. Fine-Gray competing risk model showed that age (=1.05, 95% 1.02-1.08, <0.001), heart failure (=2.81, 95% 1.79-4.39, <0.001), ischemic stroke/TIA (=1.50, 95% 1.02-2.22, =0.041) and myocardial infarction (=3.31, 95% 1.72-6.37, <0.001) were independently associated with cardiovascular death. In anticoagulated nonvalvular AF patients, ischemic stroke represents only a small subset of deaths, whereas worsening heart failure is the most common cause of cardiovascular deaths. Heart failure, ischemic stroke/TIA, and myocardial infarction are associated with increased mortality.
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Left Ventricular Assist Device Implantation in Patients with Left Ventricular Thrombus.
Artif Organs2021 Apr;():. doi: 10.1111/aor.13963.
Dogan Günes, Mariani Silvia, Hanke Jasmin S, Deniz Ezin, Merzah Ali, Li Tong, Haverich Axel, Schmitto Jan D,
Abstract
An intra-cavitary left ventricular (LV) thrombus is a relative contraindication to LV assist device (LVAD) implantation based on increased thromboembolic risks. Herein, we present our experience with LVAD patients with or without preoperative diagnosis of LV-thrombus. We retrospectively investigated 563 patients who received LVAD implantation between 2004 and 2018. Diagnosis of LV-thrombus was verified with computed tomography scan, magnetic resonance imaging, echocardiography or intraoperative LV inspection. The primary endpoint was 30-day survival free of stroke and pump thrombosis. Overall, 72 patients (12.8%) had a diagnosis of LV-thrombus. They were younger (51 years; IQR:41-59), affected by severely reduced ejection fraction (15%; IQR:10-20), more often presenting with dilated cardiomyopathy (61.8%) and INTERMACS profile 1 (33.3%). Preoperative atrial fibrillation was frequent in patients without LV-thrombus (38.9%). Conventional sternotomy was the preferred approach in LV-thrombus patients (77.8%), based on more HMII implantations in these patients (41.7%). Survival free of strokes and pump thrombosis at 30 days was comparable (p=0.5751) between patients with (83.3%) or without LV-thrombus (80.9%). LVAD implantation in patients with preoperative LV-thrombus is safe and feasible. When managed through correct diagnostic and intraoperative strategies including accurate inspection of the LV cavity, these patients show similar 30-day outcomes compared to patients without LV-thrombus.
This article is protected by copyright. All rights reserved.
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Myocarditis Presenting as Sudden Death in Infants and Children: A Single Centre Analysis by ESGFOR Study Group.
Pediatr Dev Pathol2021 Apr;():10935266211007262. doi: 10.1177/10935266211007262.
Neagu Oana, Rodríguez Amparo Fernández, Callon Domitille, Andréoletti Laurent, Cohen Marta C,
Abstract
BACKGROUND:
Acute myocarditis is an inflammatory disease of the heart mostly diagnosed in young people, which can present as sudden death. The etiology includes infectious agents (mostly viruses), systemic diseases and toxins. We aim to characterize infants and children with myocarditis at post-mortem presenting as sudden deaths.
METHODS:
Retrospective evaluation of 813 post-mortems in infants and children dying suddenly and unexpectedly between 2009-2019. Data retrieved included histological features, microbiology and clinical history.
RESULTS:
23 of 813 post-mortems reviewed corresponded to acute myocarditis and 1 to dilated cardiomyopathy related to remote Parvovirus infection. PCR identified enterovirus (7), parvovirus (7 cases, 2 also with HHV6 and 1 case with EVB), Influenza A (1), Parainfluenza type 3 (1). Two cases corresponded to hypersensitivity myocarditis, 1 was Group A Streptococcus and 5 idiopathic myocarditis. Enterovirus was frequent in infants (7/10), and in newborns was associated with meningoencephalitis or congenital myocarditis. More than 50% were less than 2 years of age and all remained clinically unsuspected.
CONCLUSION:
Myocarditis represents almost 3% of all sudden pediatric deaths. Enterovirus and parvovirus were the most common viruses. This retrospective analysis showed that patients experienced viral symptoms but remained unsuspected, highlighting the need for more clinical awareness of myocarditis.
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Investigation on the Efficiency of Tonic Chinese Herbal Injections for Treating Dilated Cardiomyopathy Based on Bayesian Network Meta-Analysis.
Evid Based Complement Alternat Med2021 ;2021():8838826. doi: 10.1155/2021/8838826.
Wang Kaihuan, Wang Haojia, Wu Jiarui, Duan Xiaojiao, Liu Xinkui, Zhang Dan, Liu Shuyu, Ni Mengwei, Meng Ziqi, Zhang Xiaomeng,
Abstract
Introduction:
This network meta-analysis investigated the efficacy of six tonic Chinese herbal injections (Huangqi injection, Shenfu injection, Shengmai injection, Shenmai injection, Shenqi Fuzheng injection, and Yiqifumai injection) compared to Western medicine for the treatment of the deteriorating state associated with dilated cardiomyopathy.
Methods:
PubMed, the Cochrane Library, Embase, the Chinese Biological Medicine Database, China National Knowledge Infrastructure, the Wanfang Database, and the Chinese Scientific Journal Database were searched from their inception to October 15, 2020, to retrieve randomized controlled trials (RCTs). Study selection and data extraction conformed to a priori criteria. The risk of bias of the included RCTs was determined, and GRADE was used to evaluate outcomes. The network meta-analysis was calculated using WinBUGS 1.4.3 and Stata 13.0 software. The clinical effective rate, left ventricular ejection fraction, 6-minute walk test, left ventricular end-diastolic dimension, heart rate, and cardiac output were deemed outcomes. All outcomes were summarized as odds ratios or mean differences with their 95% credible intervals. The ranking probability of the interventions across various outcomes was also presented.
Results:
Forty RCTs and 2970 patients were enrolled. Integration of the outcome results revealed that a combination of Shenfu injection and Western medicine ranked ahead of the other injections in most outcomes, especially in the clinical effective rate (OR?=?0.21, 95% CI: 0.12-0.34), left ventricular ejection fraction (MD?=?7.43, 95% CI: 2.41-12.38), and 6-minute walk test (MD?=?50.39, 95% CI: 25.78-76.33). Shenmai injection plus Western medicine ranked ahead of the other injections in left ventricular end-diastolic dimension (69.5%) and cardiac output (60.9%). The cluster analysis suggested that Shenfu injection plus Western medicine was the most effective intervention for dilated cardiomyopathy.
Conclusions:
Shenfu injection plus Western medicine may be a preferable treatment in dilated cardiomyopathy. Clinicians should also consider the specific patient's various conditions when making diagnostic decisions. Due to an insufficient network meta-analysis, more high-quality RCTs need to be implemented to support our conclusions.
Copyright © 2021 Kaihuan Wang et al.
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Case Report: Successful Cerebral Revascularization and Cardiac Transplant in a 16-Year-Old Male With Syndromic -Related Moyamoya Angiopathy.
Front Neurol2021 ;12():655303. doi: 10.3389/fneur.2021.655303.
Pyra Pierrick, Darcourt Jean, Aubert-Mucca Marion, Brandicourt Pierre, Patat Olivier, Cheuret Emmanuel, Brochard Karine, Sevely Annick, Calviere Lionel, Karsenty Clément,
Abstract
deletions are associated with a rare familial moyamoya angiopathy with extracranial manifestations. We report the case of an adolescent male presenting with progressive and symptomatic moyamoya angiopathy and severe dilated cardiomyopathy caused by a hemizygous deletion of . He was treated for renovascular hypertension by left kidney homograft and right nephrectomy in infancy and had other syndromic features, including cryptorchidism, growth hormone deficiency, and facial dysmorphism. Due to worsening of the neurological and cardiac condition, he was treated by a direct superficial temporal artery to middle cerebral artery bypass to enable successful cardiac transplant without cerebral damage. -related moyamoya is a devastating disease with severe heart and brain complications. This case shows that aggressive management with cerebral revascularization to allow cardiac transplant is feasible and efficient despite end-stage heart failure.
Copyright © 2021 Pyra, Darcourt, Aubert-Mucca, Brandicourt, Patat, Cheuret, Brochard, Sevely, Calviere and Karsenty.
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Clinical Impact of Secondary Risk Factors in -Mediated Dilated Cardiomyopathy.
Circ Genom Precis Med2021 Apr;14(2):e003240. doi: 10.1161/CIRCGEN.120.003240.
Giudicessi John R, Shrivastava Sanskriti, Ackerman Michael J, Pereira Naveen L,
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Statistical suggestions for long-term outcomes of non-ischemic dilated cardiomyopathy patients.
Indian Heart J -
Statistical suggestions for long-term outcomes for non-ischemic dilated cardiomyopathy.
Indian Heart J;73(2):257. doi: S0019-4832(21)00041-9.
Agstam Sourabh, Bahl Ajay, Manoj Kumar Rohit,
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Diagnosis and treatment of HCV heart diseases.
Expert Rev Cardiovasc Ther2021 Apr;():. doi: 10.1080/14779072.2021.1917383.
Haykal Mohammad, Matsumori Akira, Saleh Ahmed, Fayez Moatez, Negm Hany, Shalaby Mohammad, Bassuony Samar,
Abstract
INTRODUCTION:
Hepatitis C virus (HCV) infection is an important cause of a variety of otherwise unexplained heart diseases and myocardial injury. A high prevalence of HCV infection has been noted in patients with hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular dysplasia/cardiomyopathy and myocarditis. Various arrhythmias, conduction disturbances and QT prolongation were also associated with HCV infection.A possible role of HCV infection in the pathogenesis of diabetes and atherosclerosis, andthe role of immunogenetics of HCV cardiomyopathies is discussed. Recent studies suggest that mononuclear cells may be the major target of HCV, and clinical applications to test this new hypothesis are discussed.
AREAS COVERED:
In this review, we will evaluate the evidence that HCV causes various cardiovascular diseases, the pathogenesisof these disorders and discuss on the pathogenesis of these disorders.
EXPERT OPINION:
HCV is the cause of many different forms of heart disease worldwide, but their existence has not been recognized by most of cardiologists. The recognition and diagnosis are indispensable for the early treatment of these diseases. The diverse clinical manifestation of HCV infection and the presence of multiple extrahepatic disease syndromes could be explained by a new hypothesis that the target of HCV is leukocytes.
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[Dilated cardiomyopathy in children].
Rev Chil Pediatr2020 Dec;91(6):860-866. doi: S0370-41062020005001501.
Urcelay Gonzalo,
Abstract
Pediatric cardiomyopathies are infrequent diseases of the cardiac muscle, with an annual inciden ce of 1.1 to 1.2 per 100,000 children. Dilated cardiomyopathy (DCM) is the predominant form, characterized by ventricular dilatation and systolic dysfunction. Etiologies are multiple, with at least 50%-70% of cases being idiopathic. When assessing a child with DCM, secondary potentially reversible causes must be ruled out. The main diagnostic tool is the echocardiogram which allows the identification of cardiac phenotype, to establish the degree of functional compromise, and res ponse to medical therapy. Prognosis is limited but more favorable in infants younger than 1 year at the onset, post myocarditis, or with a lesser degree of ventricular dysfunction. At least 20% of patients may recover ventricular function in the first 2 years after the onset and 40%-50% may die or need heart transplant in the first 5 years. Medical therapy is mainly based on adult experience with limited scientific evidence in children. Heart transplant is the therapy of choice in patients with end-stage disease, with excellent short- and medium-term survival. A significant proportion of patients may require stabilization on the waiting list, including the use of mechanical circulatory support as a bridge to transplantation. The purpose of this revision is to update the available infor mation on etiology, physiopathological mechanisms, prognostic factors, and management of DCM in children.
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Multiomics Analysis of Transcriptome, Epigenome, and Genome Uncovers Putative Mechanisms for Dilated Cardiomyopathy.
Biomed Res Int2021 ;2021():6653802. doi: 10.1155/2021/6653802.
Liu Li, Huang Jianjun, Liu Yan, Pan Xingshou, Li Zhile, Zhou Liufang, Lai Tengfang, Chen Chengcai, Wei Baomin, Mo Jianjiao, Wei Qinjiang, Yan Wei, Huang Xiannan, Zhang Zhen, Zhang Zhuohua, Huang Meidan, He Fengzhen, Huang Zhaohe,
Abstract
Objective:
Multiple genes have been identified to cause dilated cardiomyopathy (DCM). Nevertheless, there is still a lack of comprehensive elucidation of the molecular characteristics for DCM. Herein, we aimed to uncover putative molecular features for DCM by multiomics analysis.
Methods:
Differentially expressed genes (DEGs) were obtained from different RNA sequencing (RNA-seq) datasets of left ventricle samples from healthy donors and DCM patients. Furthermore, protein-protein interaction (PPI) analysis was then presented. Differentially methylated genes (DMGs) were identified between DCM and control samples. Following integration of DEGs and DMGs, differentially expressed and methylated genes were acquired and their biological functions were analyzed by the clusterProfiler package. Whole exome sequencing of blood samples from 69 DCM patients was constructed in our cohort, which was analyzed the maftools package. The expression of key mutated genes was verified by three independent datasets.
Results:
1407 common DEGs were identified for DCM after integration of the two RNA-seq datasets. A PPI network was constructed, composed of 171 up- and 136 downregulated genes. Four hub genes were identified for DCM, including C3 (degree = 24), GNB3 (degree = 23), QSOX1 (degree = 21), and APOB (degree = 17). Moreover, 285 hyper- and 321 hypomethylated genes were screened for DCM. After integration, 20 differentially expressed and methylated genes were identified, which were associated with cell differentiation and protein digestion and absorption. Among single-nucleotide variant (SNV), C>T was the most frequent mutation classification for DCM. MUC4 was the most frequent mutation gene which occupied 71% across 69 samples, followed by PHLDA1, AHNAK2, and MAML3. These mutated genes were confirmed to be differentially expressed between DCM and control samples.
Conclusion:
Our findings comprehensively analyzed molecular characteristics from the transcriptome, epigenome, and genome perspectives for DCM, which could provide practical implications for DCM.
Copyright © 2021 Li Liu et al.
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Case Report: Novel Likely Pathogenic Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction.
Front Pediatr2021 ;9():609389. doi: 10.3389/fped.2021.609389.
Park Joonhong, Cho Yong Gon, Park Ha Wook, Cho Jung Sun,
Abstract
Left ventricular non-compaction (LVNC) is a very rare primary cardiomyopathy with a genetic etiology, resulting from the failure of myocardial development during embryogenesis, and it carries a high risk of left ventricular dysfunction, thromboembolic phenomenon, and malignant arrhythmias. Here, we report the first case of familial LVNC in Korea, caused by a novel missense variant. We performed duo exome sequencing (ES) to examine the genome of the proband and his father. A 15-year-old boy was admitted for the evaluation of exertional dyspnea for 2 weeks. He was diagnosed with LVNC with a dilated cardiomyopathy phenotype [left ventricular end-diastolic dimension 60 mm, interventricular septal dimension 8.2 mm by transthoracic echocardiography (TTE)]. For the screening of familial cardiomyopathy, TTE and cardiac magnetic resonance imaging (cMRI) were performed, which revealed hypertrophic and isolated LVNC in the proband's father and sister, respectively. In particular, the cMRI revealed dense hypertrabeculation with focal aneurysmal changes in the apical septal wall in the proband's father. ES of the father-son duo identified a novel heterozygous c.668T>C variant of the gene (NM_001103.3:c.668T>C, p.Leu223Pro; no rsID) as the candidate cause of autosomal dominant LVNC. Sanger sequencing confirmed this novel variant in the proband, his father, and sister, but not in the proband's grandmother. Even within families harboring the same variant, a variable risk of adverse outcomes is common. Therefore, familial screening for patients with LVNC associated with variant should be performed for early detection of the LVNC phenotype associated with poor outcomes, such as dilated LVNC.
Copyright © 2021 Park, Cho, Park and Cho.
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Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-Syndromic Hearing Loss.
Otol Neurotol2021 Apr;():. doi: 10.1097/MAO.0000000000003169.
Ishino Takashi, Ogawa Yui, Sonoyama Toru, Taruya Takayuki, Kono Takashi, Hamamoto Takao, Ueda Tsutomu, Takeno Sachio, Moteki Hideaki, Nishio Shin-Ya, Usami Shin-Ichi, Nagano Yuka, Yoshimura Akiko, Yoshikawa Kohei, Kato Mikako, Ichimoto Masaya, Watanabe Rina,
Abstract
OBJECTIVE:
Eyes absent 4 (EYA4) is the causative gene of autosomal dominant non-syndromic hereditary hearing loss, DFNA10. We aimed to identify a copy number variation of EYA4 in a non-syndromic sensory neural hearing loss pedigree.
FAMILY AND CLINICAL EVALUATION:
A Japanese family showing late-onset and progressive hearing loss was evaluated. A pattern of autosomal dominant inheritance of hearing loss was recognized in the pedigree. No cardiac disease was observed in any of the individuals.
METHODS:
Targeted exon sequencing was performed using massively parallel DNA sequencing (MPS) analysis. Scanning of the array comparative genomic hybridization (aCGH) was completed and the copy number variation (CNV) data from the aCGH analysis was confirmed by matching all CNV calls with MPS analysis. Breakpoint detection was performed by whole-genome sequencing and direct sequencing. Sequencing results were examined, and co-segregation analysis of hearing loss was completed.
RESULTS:
We identified a novel hemizygous indel that showed CNV in the EYA4 gene from the position 133,457,057 to 133,469,892 on chromosome 6 (build GRCh38/hg38) predicted as p.(Val124_Pro323del), and that was segregated with post-lingual and progressive autosomal dominant sensorineural hearing loss by aCGH analysis.
CONCLUSION:
Based on the theory of genotype-phenotype correlation with EYA4 mutations in terms of hearing loss and comorbid dilated cardiomyopathy, the region of amino acids 124 to 343 is hypothesized not to be the pathogenic region causing dilated cardiomyopathy. Additionally, the theory of genotype-phenotype correlation about the prevalence of dilated cardiomyopathy is thought to be rejected because of no correlation of deleted amino acid region with the prevalence of dilated cardiomyopathy. These results will help expand the research on both the coordination of cochlear transcriptional regulation and normal cardiac gene regulation via EYA4 transcripts and provide information on the genotype-phenotype correlations of DFNA10 hearing loss.
Copyright © 2021 by Otology & Neurotology, Inc. Image copyright © 2010 Wolters Kluwer Health/Anatomical Chart Company.
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Energy drink-induced cardiomyopathy.
BMJ Case Rep2021 Apr;14(4):. doi: e239370.
Fisk Gracie, Hammond-Haley Matthew, D'Silva Andrew,
Abstract
We report a case of severe biventricular heart failure potentially related to excessive energy drink consumption in a 21-year-old man. The patient presented with a 4-month history of shortness of breath on exertion, orthopnoea and weight loss. Transthoracic echocardiography demonstrated severely impaired biventricular systolic function and bilateral ventricular thrombi, subsequently confirmed on cardiac magnetic resonance imaging, which found in addition no oedema, inflammation or focal fibrosis. Blood tests, renal ultrasound and subsequent abdominal MRI demonstrated severe renal failure caused by a chronic obstructive uropathy, long-standing and previously undiagnosed. There was no significant past medical, family or social history other than excessive intake of an energy drink. This case report adds to the growing concern in the literature about the potential cardiotoxic effects of energy drinks, which should be considered when assessing young patients presenting with a non-ischaemic dilated cardiomyopathy.
© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.
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Correction to: Psoriasis as risk factor for non-ischemic dilated cardiomyopathy: a population-based cross-sectional study.
BMC Cardiovasc Disord2021 Apr;21(1):179. doi: 10.1186/s12872-021-01984-w.
Alshami Abbas, Alfraji Nasam, Douedi Steven, Patel Swapnil, Hossain Mohammad, Alpert Deborah, Calderon Dawn,
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Barth syndrome with severe dilated cardiomyopathy and growth hormone resistance: a case report.
J Pediatr Endocrinol Metab2021 Apr;():. doi: 10.1515/jpem-2020-0666.
Vanderniet Joel A, Benitez-Aguirre Paul Z, Broderick Carolyn R, Kelley Richard I, Balasubramaniam Shanti,
Abstract
OBJECTIVES:
To describe the metabolic and endocrine features of a patient with Barth syndrome who showed evidence of growth hormone resistance.
CASE PRESENTATION:
A male proband deteriorated rapidly with lactic acidosis after a circumcision at age three weeks and was found to have severe dilated cardiomyopathy. A cardiomyopathy gene panel led to the diagnosis of -deficiency Barth syndrome. He subsequently experienced hypotonia and gross motor delay, feeding difficulties for the first four years, constitutional growth delay and one episode of ketotic hypoglycaemia. Cardiomyopathy resolved on oral anti-failure therapy by age three years. He had a hormonal pattern of growth hormone resistance, and growth hormone treatment was considered, however height velocity improved spontaneously after age 3˝ years. He also had biochemical primary hypothyroidism.
CONCLUSIONS:
With careful metabolic management with l-arginine supplementation, overnight corn starch, and a prescribed exercise program, our patient's strength, endurance, level of physical activity and body composition improved significantly by age six years.
© 2021 Walter de Gruyter GmbH, Berlin/Boston.
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Cardiac-Specific Deletion of Orai3 Leads to Severe Dilated Cardiomyopathy and Heart Failure in Mice.
J Am Heart Assoc2021 Apr;10(8):e019486. doi: 10.1161/JAHA.120.019486.
Gammons Jesse, Trebak Mohamed, Mancarella Salvatore,
Abstract
Background Orai3 is a mammalian-specific member of the Orai family (Orai1?3) and a component of the store-operated Ca entry channels. There is little understanding of the role of Orai channels in cardiomyocytes, and its role in cardiac function remains unexplored. Thus, we developed mice lacking Orai1 and Orai3 to address their role in cardiac homeostasis. Methods and Results We generated constitutive and inducible cardiomyocyte-specific Orai3 knockout (Orai3) mice. Constitutive Orai3-loss led to ventricular dysfunction progressing to dilated cardiomyopathy and heart failure. Orai3 mice subjected to pressure overload developed a fulminant dilated cardiomyopathy with rapid heart failure onset, characterized by interstitial fibrosis and apoptosis. Ultrastructural analysis of Orai3-deficient cardiomyocytes showed abnormal M- and Z-line morphology. The greater density of condensed mitochondria in Orai3-deficient cardiomyocytes was associated with the upregulation of DRP1 (dynamin-related protein 1). Cardiomyocytes isolated from Orai3 mice exhibited profoundly altered myocardial Ca cycling and changes in the expression of critical proteins involved in the Ca clearance mechanisms. Upregulation of TRPC6 (transient receptor potential canonical type 6) channels was associated with upregulation of the RCAN1 (regulator of calcineurin 1), indicating the activation of the calcineurin signaling pathway in Orai3 mice. A more dramatic cardiac phenotype emerged when Orai3 was removed in adult mice using a tamoxifen-inducible Orai3 mouse. The removal of Orai1 from adult cardiomyocytes did not change the phenotype of tamoxifen-inducible Orai3 mice. Conclusions Our results identify a critical role for Orai3 in the heart. We provide evidence that Orai3-mediated Ca signaling is required for maintaining sarcomere integrity and proper mitochondrial function in adult mammalian cardiomyocytes.
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Differences Between Pediatric Acute Myocarditis Related and Unrelated to SARS-CoV-2.
Pediatr Infect Dis J2021 05;40(5):e173-e178. doi: 10.1097/INF.0000000000003094.
Vukomanovic Vladislav A, Krasic Stasa, Prijic Sergej, Ninic Sanja, Minic Predrag, Petrovic Gordana, Nesic Dejan,
Abstract
BACKGROUND:
Acute myocarditis (AM) is defined as inflammation of the myocardium. The aim of our study is a comparative analysis of the differences between AM related and unrelated to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).
METHODS:
The retrospective study included children with AM treated from January 2018 to November 2020.
RESULTS:
The study included 24 patients; 7 of 24 had AM related to SARS-CoV-2 and they were older than 7. They were more likely to have abdominal pain (P = 0.014), headache (P = 0.003), cutaneous rash (P = 0.003), and conjunctivitis (P = 0.003), while fulminant myocarditis was commonly registered in AM unrelated to SARS-CoV-2 (P = 0.04). A multisystem inflammatory syndrome in children associated with COVID-19 was diagnosed in six adolescents. Patients with AM related SARS-CoV-2 had lower serum cardiac troponin I (cTnI) (P = 0.012), and platelets (P < 0.001), but had a higher C-reactive protein (CRP) value (P = 0.04), and N-terminal-pro hormone BNP in comparison to patients with AM unrelated to SARS-CoV-2. The patients with AM related to SARS-CoV-2 had significant reduction of CRP (P = 0.007). Inotropic drug support was used for shorter durations in patients with AM related to SARS-CoV-2, than in others (P = 0.02). Children with AM related to SARS-CoV-2 had significant improvement of left ventricle systolic function on the third day in hospital (P = 0.001). Patients with AM unrelated to SARS-CoV-2 AM had more frequent adverse outcomes (P = 0.04; three died and four dilated cardiomyopathy).
CONCLUSIONS:
In contrast to patients with AM unrelated to SARS-CoV-2, patients with AM related to SARS-CoV-2 had a higher CRP value, polymorphic clinical presentation, shorter durations of inotropic drugs use as well as prompt recovery of left ventricle systolic function.
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
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