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Pubblicazioni recenti - dilated cardiomyopathy
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Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy.
Ann Noninvasive Electrocardiol2019 Sep;():e12687. doi: 10.1111/anec.12687.
Mastroianno Sandra, Palumbo Pietro, Castellana Stefano, Leone Maria Pia, Massaro Raimondo, Potenza Domenico Rosario, Mazza Tommaso, Russo Aldo, Castori Marco, Carella Massimo, Di Stolfo Giuseppe,
Abstract
Cardiomyopathies caused by double gene mutations are rare but conferred a remarkably increased risk of end-stage progression, arrhythmias, and poor outcome. Compound genetic mutations leading to complex phenotype in the setting of cardiomyopathies represent an important challenge in clinical practice, and genetic tests allow risk stratification and personalized clinical management of patients. We report a case of a 50-year-old woman with congestive heart failure characterized by dilated cardiomyopathy, diffuse coronary disease, complete atrioventricular block, and missense mutations in cardiac myosin-binding protein C (MYBPC3) and myopalladin (MYPN). We discuss the plausible role of genetic profile in phenotype determination.
© 2019 Wiley Periodicals, Inc.
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Genetic Arrhythmias Complicating Patients with Dilated Cardiomyopathy.
Heart Rhythm2019 Sep;():. doi: S1547-5271(19)30833-1.
Li Zongzhe, Chen Peng, Li Chenze, Tan Lun, Xu Jinchao, Wang Hong, Sun Yang, Wang Yan, Zhao Chunxia, Link Mark S, Wilde Arthur A M, Wang Dao Wu, Wang Dao Wen,
Abstract
BACKGROUND:
Sudden cardiac death due to malignant arrhythmias is a common cause of death in dilated cardiomyopathy (DCM). Whether genetic variants increase the risk of arrhythmias in DCM is unknown.
OBJECTIVES:
To investigate the genetic causes of arrhythmias in DCM patients.
METHODS:
Whole-exome sequencing (WES) and high-depth targeted next-generation sequencing (142-gene panel) were utilized. Eight specific DCM pedigrees with arrhythmias and two separate cohorts of 1232 consecutive unrelated sporadic DCM patients from three medical centers (550 in the discovery cohort; 682 in the replication cohort) were analyzed; 470 (250 in the discovery cohort; 220 in the replication cohort) suffered from arrhythmias (DCM-A group) and 762 (300 in the discovery cohort; 462 in the replication cohort) did not (DCM-NA group). All identified causative variants were Sanger sequenced to eliminate false-positive results and then screened in 700 unrelated matched arrhythmia- and DCM-free healthy controls.
RESULTS:
We identified LQTS-causative variants that independently cosegregated in two unrelated DCM-LQTS pedigrees. Pathogenic variants in arrhythmia-related genes (Ion-channelopathies) were identified in 4.9% (23/470) of sporadic DCM-A patients (4.0% in the discovery cohort and 5.9% in the replication cohort) but only 0.1% (1/762) of sporadic DCM-NA patients (P=2.16 × 10). These arrhythmia-related pathogenic variants included long QT syndrome, atrial fibrillation, sick sinus syndrome, cardiac conduction disease, and Brugada syndrome.
CONCLUSIONS:
Some arrhythmias in DCM patients are caused by arrhythmia-related pathogenic variants. For DCM patients with explicit arrhythmias, arrhythmia-causative genetic screening may help to explain the etiology and decision making.
Copyright © 2019. Published by Elsevier Inc.
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Differential expression of genes participating in cardiomyocyte electrophysiological remodeling via membrane ionic mechanisms and Ca-handling in human heart failure.
Mol Cell Biochem2019 Sep;():. doi: 10.1007/s11010-019-03626-4.
Kepenek Eda Seyma, Ozcinar Evren, Tuncay Erkan, Akcali Kamil Can, Akar Ahmet Ruchan, Turan Belma,
Abstract
Excitation-contraction coupling in normal cardiac function is performed with well balanced and coordinated functioning but with complex dynamic interactions between functionally connected membrane ionic currents. However, their genomic investigations provide essential information on the regulation of diseases by their transcripts. Therefore, we examined the gene expression levels of the most important voltage-gated ionic channels such as Na-channels (SCN5A), Ca-channels (CACNA1C and CACNA1H), and K-channels, including transient outward (KCND2, KCNA2, KCNA5, KCNA8), inward rectifier (KCNJ2, KCNJ12, KCNJ4), and delayed rectifier (KCNB1) in left ventricular tissues from either ischemic or dilated cardiomyopathy (ICM or DCM). We also examined the mRNA levels of ATP-dependent K-channels (KCNJ11, ABCC9) and ERG-family channels (KCNH2). We further determined the mRNA levels of ryanodine receptors (RyR2; ARVC2), phospholamban (PLB or PLN), SR Ca-pump (SERCA2; ATP2A1), an accessory protein FKBP12 (PPIASE), protein kinase A (PPNAD4), and Ca/calmodulin-dependent protein kinase II (CAMK2G). The mRNA levels of SCN5A, CACNA1C, and CACNA1H in both groups decreased markedly in the heart samples with similar significance, while KvLQT1 genes were high with depressed Kv4.2. The KCNJ11 and KCNJ12 in both groups were depressed, while the KCNJ4 level was significantly high. More importantly, the KCNA5 gene was downregulated only in the ICM, while the KCNJ2 was upregulated only in the DCM. Besides, mRNA levels of ARVC2 and PLB were significantly high compared to the controls, whereas others (ATP2A1, PPIASE, PPNAD4, and CAMK2G) were decreased. Importantly, the increases of KCNB1 and KCNJ11 were more prominent in the ICM than DCM, while the decreases in ATP2A1 and FKBP1A were more prominent in DCM compared to ICM. Overall, this study was the first to demonstrate that the different levels of changes in gene profiles via different types of cardiomyopathy are prominent particularly in some K-channels, which provide further information about our knowledge of how remodeling processes can be differentiated in HF originated from different pathological conditions.
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Hypocalcemic cardiomyopathy: a rare presenting manifestation of hypoparathyroidism.
BMJ Case Rep2019 Sep;12(9):. doi: e229822.
Saini Neharika, Mishra Sanat, Banerjee Saurav, Rajput Rajesh,
Abstract
Hypoparathyroidism patients present with features of hypocalcemia like carpopedal spasm, numbness and paresthesias but hypocalcemic cardiomyopathy leading to congestive heart failure (CHF) is a rare presentation. We present here a case of 55-year-old Asian man who was a known case of dilated cardiomyopathy for 6 months, presented with the chief complaints of shortness of breath on exertion and decreased urine output. On general physical examination, features suggestive of CHF were seen. Chvostek and Trousseau's sign was positive. The patient had a history of cataract surgery of both eyes 15 years ago. Further investigations revealed hypocalcemia. Echo showed severe global hypokinesia of left ventricle with left ventricle ejection fraction 15%. This CHF was refractory to conventional treatment, though, with calcium supplementation, the patient improved symptomatically. On follow-up after 3 months, an improvement was seen in the echocardiographic parameters with ejection fraction improving to 25%.
© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.
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Disruption of cardiac thin filament assembly arising from a mutation in : A novel mechanism of neonatal dilated cardiomyopathy.
Sci Adv2019 Sep;5(9):eaax2066. doi: 10.1126/sciadv.aax2066.
Ahrens-Nicklas Rebecca C, Pappas Christopher T, Farman Gerrie P, Mayfield Rachel M, Larrinaga Tania M, Medne Livija, Ritter Alyssa, Krantz Ian D, Murali Chaya, Lin Kimberly Y, Berger Justin H, Yum Sabrina W, Carreon Chrystalle Katte, Gregorio Carol C,
Abstract
Neonatal heart failure is a rare, poorly-understood presentation of familial dilated cardiomyopathy (DCM). Exome sequencing in a neonate with severe DCM revealed a homozygous nonsense variant in leiomodin 2 (, p.Trp398*). Leiomodins (Lmods) are actin-binding proteins that regulate actin filament assembly. While disease-causing mutations in smooth () and skeletal () muscle isoforms have been described, the cardiac () isoform has not been previously associated with human disease. Like our patient, -null mice have severe early-onset DCM and die before weaning. The infant's explanted heart showed extraordinarily short thin filaments with isolated cardiomyocytes displaying a large reduction in maximum calcium-activated force production. The lack of extracardiac symptoms in -null mice, and remarkable morphological and functional similarities between the patient and mouse model informed the decision to pursue cardiac transplantation in the patient. To our knowledge, this is the first report of aberrant cardiac thin filament assembly associated with human cardiomyopathy.
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Native T1 time and extracellular volume fraction in differentiation of normal myocardium from non-ischemic dilated and hypertrophic cardiomyopathy myocardium: A systematic review and meta-analysis.
Int J Cardiol Heart Vasc2019 Dec;25():100422. doi: 10.1016/j.ijcha.2019.100422.
Minegishi Shintaro, Kato Shingo, Takase-Minegishi Kaoru, Horita Nobuyuki, Azushima Kengo, Wakui Hiromichi, Ishigami Tomoaki, Kosuge Masami, Kimura Kazuo, Tamura Kouichi,
Abstract
Background:
Both native T1 time and extracellular volume (ECV) fraction have been shown to be important measures for the detection of myocardial fibrosis. However, ECV determination requires the administration of an intravenous contrast agent, whereas native T1 mapping can be performed without a contrast agent.
Methods:
Here, we conducted a meta-analysis of myocardial native T1 data obtained for non-ischemic cardiomyopathy (NIC) patients and controls. A literature review included studies that applied T1 mapping using modified Look-Locker inversion recovery to measure myocardial fibrosis, and the results were validated by comparing datasets for dilated cardiomyopathy (DCM) or hypertrophic cardiomyopathy (HCM) patients and healthy controls (HCs).
Results:
We identified 16 eligible studies. Pooled mean differences (MDs) and 95% confidence intervals (CIs) were estimated as follows. Native T1 at 1.5-T, DCM vs. HC: MD?=?45.26 (95% CI: 30.92-59.59); HCM vs. HC: MD?=?47.09 (95% CI: 32.42-61.76). Native T1 at 3.0-T, DCM vs. HC: MD?=?82.52 (95% CI: 47.60-117.44); HCM vs. HC: MD?=?115.87 (95% CI: 50.71-181.04). ECV at 1.5-T, DCM vs. HC: MD?=?4.26 (95% CI: 3.06-5.46); HCM vs. HC: MD?=?1.49 (95% CI: -1.45-4.43). ECV at 3.0-T, DCM vs. HC: MD?=?8.40 (95% CI: 2.94-13.86); HCM vs. HC: MD?=?8.02 (95% CI: 5.45-1-0.59).
Conclusion:
In conclusion, native T1 values were significantly different between NIC patients and controls. Native T1 mapping may be a useful noninvasive method to detect diffuse myocardial fibrosis in NIC patients.
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Myocardial work is a predictor of exercise tolerance in patients with dilated cardiomyopathy and left ventricular dyssynchrony.
Int J Cardiovasc Imaging2019 Sep;():. doi: 10.1007/s10554-019-01689-4.
Schrub Florian, Schnell Frédéric, Donal Erwan, Galli Elena,
Abstract
The assessment of myocardial work (MW) by pressure-strain loops is a recently introduced tool for the assessment of myocardial performance. Aim of the present study is to evaluate the relationship between myocardial work and exercise tolerance in patients with dilated cardiomyopathy (DCM). 51 patients with DCM (mean age 57?±?13 years, left ventricular ejection fraction: 32?±?9%) underwent cardiopulmonary exercise test (CPET) to assess exercise performance. 22 patients (43%) had left or right bundle branch block with QRS duration?>?120 ms. Trans-thoracic echocardiography (TTE) was performed before CPET. The following indices of myocardial work (MW) were measured regionally and globally: constructive work (CW), wasted work (WW), and work efficiency (WE). Left ventricular dyssynchrony (LV-DYS) was defined by the presence of septal flash or apical rocking at TTE. LV-DYS was observed in 16 (31%) patients and associated with lower LV ejection fraction (LVEF), lower global and septal WE, and higher global and septal WW. In patients with LV-DYS, septal WE was the only predictor of exercise capacity at multivariable analysis (??=?0.68, p?=?0.03), whereas LVEF (??=?0.47, p?=?0.05) and age (? =?-?0.42, p?=?0.04) were predictors of exercise capacity in patients without LV-DYS. In patients with DCM, LV-DYS is associated with an heterogeneous distribution of myocardial work. Septal WE is the best predictor of exercise performance in these patients.
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Sex Differences in the Long-term Prognosis of Dilated Cardiomyopathy.
Can J Cardiol2019 May;():. doi: S0828-282X(19)30377-0.
Cannatà Antonio, Fabris Enrico, Merlo Marco, Artico Jessica, Gentile Piero, Pio Loco Carola, Ballaben Andrea, Ramani Federica, Barbati Giulia, Sinagra Gianfranco,
Abstract
BACKGROUND:
Dilated cardiomyopathy (DCM) represents a specific phenotype of heart failure. Sex differences in the long-term prognosis of patients with DCM are unknown. The aim of this study is to investigate the long-term prognostic role of gender in a large cohort of patients with DCM.
METHODS:
A total of 1113 patients with DCM were prospectively enrolled. To investigate the impact of sex, a propensity score-matching analysis was performed on a sample of 586 patients. Univariable and multivariable Cox models and competing-risk analyses were estimated on both cohorts for the following outcome measures: (1) all-cause mortality/heart transplantation (HTx)/ventricular assist device (VAD); (2) cardiovascular mortality/HTx/VAD; and (3) sudden cardiac death or malignant ventricular arrhythmias.
RESULTS:
Women were older than men (50 ± 15 years vs 47 ± 15 years, respectively, P = 0.004) and more frequently had moderate to severe left ventricular dilation (P < 0.001) and left bundle branch block (P = 0.019). At multivariable analyses, male sex was independently associated with all considered outcome measures in the total cohort. At propensity score-matching analysis, over a median follow-up of 126 months (interquartile range, 62-201), 96 men (33%) versus 66 women (22%) experienced all-cause mortality/HTx/VAD (P = 0.03), 95 men (32%) versus 57 women (20%) experienced cardiovascular mortality/HTx/VAD (P = 0.025), and 46 men (16%) versus 28 women (10%) experienced sudden cardiac death/malignant ventricular arrhythmias (P = 0.07).
CONCLUSION:
The long-term outcomes of women affected by DCM are more favourable than those of men, and sex emerged as an important independent factor, particularly for cardiovascular outcomes.
Copyright © 2019 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
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Predicting Arrhythmia Risk in Dilated Cardiomyopathy Using Genetic Mutation Status.
J Am Coll Cardiol2019 Sep;74(11):1491-1493. doi: S0735-1097(19)35977-7.
McNally Elizabeth M, Amaral Ansel Philip,
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Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy.
J Am Coll Cardiol2019 Sep;74(11):1480-1490. doi: S0735-1097(19)35976-5.
Gigli Marta, Merlo Marco, Graw Sharon L, Barbati Giulia, Rowland Teisha J, Slavov Dobromir B, Stolfo Davide, Haywood Mary E, Dal Ferro Matteo, Altinier Alessandro, Ramani Federica, Brun Francesca, Cocciolo Andrea, Puggia Ilaria, Morea Gaetano, McKenna William J, La Rosa Francisco G, Taylor Matthew R G, Sinagra Gianfranco, Mestroni Luisa,
Abstract
BACKGROUND:
Genotype-phenotype correlations in dilated cardiomyopathy (DCM) and, in particular, the effects of gene variants on clinical outcomes remain poorly understood.
OBJECTIVES:
The purpose of this study was to investigate the prognostic role of genetic variant carrier status in a large cohort of DCM patients.
METHODS:
A total of 487 DCM patients were analyzed by next-generation sequencing and categorized the disease genes into functional gene groups. The following composite outcome measures were assessed: 1) all-cause mortality; 2) heart failure-related death, heart transplantation, or destination left ventricular assist device implantation (DHF/HTx/VAD); and 3) sudden cardiac death/sustained ventricular tachycardia/ventricular fibrillation (SCD/VT/VF).
RESULTS:
A total of 183 pathogenic/likely pathogenic variants were found in 178 patients (37%): 54 (11%) Titin; 19 (4%) Lamin A/C (LMNA); 24 (5%) structural cytoskeleton-Z disk genes; 16 (3.5%) desmosomal genes; 46 (9.5%) sarcomeric genes; 8 (1.6%) ion channel genes; and 11 (2.5%) other genes. All-cause mortality was no different between variant carriers and noncarriers (p = 0.99). A trend toward worse SCD/VT/VF (p = 0.062) and DHF/HTx/VAD (p = 0.061) was found in carriers. Carriers of desmosomal and LMNA variants experienced the highest rate of SCD/VT/VF, which was independent of the left ventricular ejection fraction.
CONCLUSIONS:
Desmosomal and LMNA gene variants identify the subset of DCM patients who are at greatest risk for SCD and life-threatening ventricular arrhythmias, regardless of the left ventricular ejection fraction.
Copyright © 2019 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.
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Leducq Transatlantic Network of Excellence to Cure Phospholamban-Induced Cardiomyopathy (CURE-PLaN).
Circ Res2019 Sep;125(7):720-724. doi: 10.1161/CIRCRESAHA.119.315077.
Doevendans Pieter A, Glijnis Pieter C, Kranias Evangelia G,
Abstract
The deletion of Arginine 14 of the phosholamban gene (PLN p.R14del) is associated with the pathogenesis of an inherited form of cardiomyopathy with prominent arrhythmias. Patients carrying the PLN R14del mutation are at risk of developing dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy. Although the genetic etiology is well defined, the molecular mechanism underlying the pathogenesis of PLN R14del-cardiomyopathy is unknown. Our CURE PLaN network, funded by the Foundation Leducq, will bring together leading scientists, clinicians, and patients to elucidate the genotype-phenotype relationships in R14del cardiomyopathy with the ultimate goal of developing innovative disease-specific therapeutic modalities. With the generous support of the Leducq Foundation, our Transatlantic Network of Excellence consortium to cure Phospholamban (PLN)-induced cardiomyopathy (CURE-PLaN) unites 6 leading centers to address the current challenges associated with arrhythmogenic right ventricular cardiomyopathy/dilated cardiomyopathy (DCM) with an initial focus on PLN and development of effective treatments. The Network is led by Evangelia (Litsa) Kranias (University of Cincinnati) in the United States and Pieter A. Doevendans (Netherlands Heart Institute/UMC Utrecht NL) in Europe. The other US project leaders are Kevin Costa (Cardiovascular Research Center, Icahn School of Medicine at Mount Sinai, New York) and Mark Mercola and Ioannis Karakikes (Stanford University), who are focusing on induced pluripotent stem cell (iPSC)-based disease models, tissue engineering, gene therapy, and drug discovery. On the European side, the project leaders are Despina Sanoudou (Biomedical Research Foundation of the Academy of Athens) analyzing the PLN interactome and Stephan Lehnart (University of Gottingen) addressing the subcellular and disrupted protein interactions affected in PLN-mutant cardiomyocytes. Other key members within the Netherlands Heart Institute are Peter van Tintelen on PLN genetics, Folkert Asselbergs on epigenetics and Rudolf de Boer on clinical trials. We are also privileged to get support from Arthur Wilde (University of Amsterdam), Sakthivel Sadayappan (University of Cincinnati), and Roger Hajjar (Phospholamban Foundation), who have had a long-standing interest in cardiac physiology and pathophysiology with emphasis on underlying pathways and potential therapeutic targets. The consortium is also fortunate to embrace a patient advocate, Pieter Glijnis, incorporating the voice of the patients to research in every step. Our goal is to build and share a platform of patient data coupled with in vitro and in vivo models to promote scientific discovery and advance novel treatments. Phospholamban is a small phosphoprotein in the cardiac sarcoplasmic reticulum, and it is the major regulator of SERCA2a activity and calcium (Ca)-cycling. Chronic inhibition of SERCA2a by PLN has been implicated in the aberrant Ca-cycling of failing hearts. Studies in HF models have shown that decreasing PLN activity may rescue cardiac remodeling and dysfunction. Several human PLN mutations, leading to inhibition of Ca-uptake into the sarcoplasmic reticulum, are linked to inherited DCM.
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LTBP2 knockdown by siRNA reverses myocardial oxidative stress injury, fibrosis, and remodeling during dilated cardiomyopathy.
Acta Physiol (Oxf)2019 Sep;():. doi: 10.1111/apha.13377.
Pang Xue-Feng, Lin Xue, Du Jian-Jun, Zeng Ding-Yin,
Abstract
AIM:
Dilated cardiomyopathy (DCM) is is characterised by left ventricular dilation and associated with systolic dysfunction. Recent evidence has reported the high expression of latent transforming growth factor beta-binding protein 2 (LTBP2) in heart diseases, which may play a role in regulating multiple biological functions of myocardial cells. Thus, this study set out to investigate the molecular mechanism and effects of LTBP2 in myocardial oxidative stress injury, fibrosis and remodeling in a rat model of DCM, with the involvement of NF-?B signaling pathway.
METHODS:
The rat model of DCM was treated with si-LTBP2 and/or activator of NF-?B signaling pathway to examine the hemodynamic indexes, cardiac functions, oxidative stress injury, fibrosis and remodeling. Moreover, in vitro experiments were conducted to verify the regulatory role of LTBP2 and NF-?B signaling pathway in DCM.
RESULTS:
LTBP2 was upregulated in DCM rats. After LTBP2 was knocked down, hemodynamic indexes, HW/BW ratio, collagen volume fraction (CVF) level, positive expression of LTBP2, levels of reactive oxygen species (ROS), malondialdehyde (MDA), interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-?), tumor necrosis factor-beta 1 (TGF-?1) and brain natriuretic peptide (BNP) were all decreased. Meanwhile, levels of LTBP2, Col-I, Col-III, p65 and p52 were also reduced, while HW, BW and levels of SOD and TAOC were increased. In contrast, activation of NF-?B signaling pathway reversed effects of LTBP2 gene silencing. These findings were confirmed by in vivo experiments.
CONCLUSIONS:
LTBP2 silencing can attenuate myocardial oxidative stress injury, myocardial fibrosis and myocardial remodeling in DCM rats by down-regulating NF-?B signaling pathway.
© 2019 Scandinavian Physiological Society. Published by John Wiley & Sons Ltd.
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Thyroid Storm-induced Severe Dilated Cardiomyopathy and Ventricular Tachycardia.
Cureus2019 Jul;11(7):e5079. doi: 10.7759/cureus.5079.
Sourial Kirolus, Borgan Saif M, Mosquera Jorge E, Abdelghani Loui, Javaid Aamir,
Abstract
Thyroid storm is an extreme form of hyperthyroidism associated with a high mortality rate. Heart failure is considered the leading cause of mortality in patients with thyroid storm, though the underlying cardiac pathology is unclear. Approximately 6% of patients with thyroid storm have heart failure symptoms as the initial presenting complaint. Roughly, one-third of these patients develop dilated cardiomyopathy (DCM). In this report, we present a case of cardiogenic pulmonary edema and sustained ventricular tachycardia in a patient with hyperthyroidism presenting with thyroid storm.
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From Gut to Heart: Havoc in a Young Patient with Typhoid-associated Cardiomyopathy.
Cureus2019 Jul;11(7):e5049. doi: 10.7759/cureus.5049.
Majid Abdul, Bin Waqar Syed Hamza, Rehan Aiman, Kumar Sanjay,
Abstract
Typhoid is an endemic hassle, especially in third-world countries like Pakistan. It is an enteric fever characterized by systemic manifestations that include high temperature and abdominal pain. If not properly treated, at times, it can transgress into complications predominantly involving the gut, where the site of pathology lies. Sometimes, however, it can involve other organ systems and pose diagnostic challenges owing to unfamiliar modes of presentation. Here in, we present a case of a 14-year-old male, previously afflicted and treated for typhoid who presented to the medical consult service with abdominal pain, high-grade fever, and mild chest discomfort. His hemodynamic parameters deteriorated within weeks as he developed pulmonary edema and hypoxemia. He was later diagnosed with echocardiography which earlier on, showed signs of acute myocarditis and eventually dilated cardiomyopathy. The patient was treated with antibiotics coupled with supportive and intensive care which yielded relief in his symptoms. He was later followed up with serial echocardiograms and showed improvement in the cardiac parameters.
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Left Ventricular Noncompaction: Cause or Consequence of Myocardial Disease? A Case Report and Literature Review.
Cardiology2019 Sep;():1-5. doi: 10.1159/000500904.
Loria Valentina, Colizzi Christian, Vaccarella Marcello, Franceschi Francesco, Aspromonte Nadia,
Abstract
A 57-year-old woman presented to the Emergency Department with symptoms of worsening heart failure (HF). She had a past medical history of breast cancer treated with surgery and chemotherapy with anthracyclines and no family history of cardiomyopathy (CMP). In the last year, she received a diagnosis of HF with normal coronary arteries, during hospitalization for acute onset of dyspnea and was treated with medical therapy. After several months, few days before admission to our hospital, an echocardiography (ECHO) showed features of left ventricular noncompaction (LVNC), not described in previous ECHO and further confirmed by cardiac magnetic resonance. This case highlights the current uncertainties regarding the pathogenesis of LVNC and the clinical challenge of cardiologists facing LVNC morphology to decide if they are observing a genetic CMP, a phenotype overlapping with dilated or hypertrophic CMP, or a variant of the left ventricular (LV) wall anatomy. No consensus exists among scientific communities regarding diagnostic criteria of LVNC and in most cases; the key element in the diagnostic decision is not the LVNC by itself, but the associated LV dilation and/or dysfunction, hypertrophy, arrhythmias, and embolic events.
© 2019 S. Karger AG, Basel.
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Emerging role of microRNAs in dilated cardiomyopathy: evidence regarding etiology.
Transl Res2019 Aug;():. doi: S1931-5244(19)30170-7.
Calderon-Dominguez Maria, Belmonte Thalía, Quezada-Feijoo Maribel, Ramos-Sánchez Monica, Fernández-Armenta Juan, Pérez-Navarro Amparo, Cesar Sergi, Peña Luisa Peña, Vea Àngela, Llorente-Cortés Vicenta, Mangas Alipio, de Gonzalo-Calvo David, Toro Rocio,
Abstract
Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular dilation and systolic dysfunction in the absence of abnormal loading conditions or coronary artery disease. This cardiac disorder is a major health problem due to its high prevalence, morbidity, and mortality. DCM is a complex disease with a common phenotype but heterogeneous pathological mechanisms. Early etiological diagnosis and prognosis stratification is crucial for the clinical management of the patient. Advances in imaging technology and genetic tests have provided useful tools for clinical practice. Nevertheless, the assessment of the disease remains challenging. Novel noninvasive indicators are still needed to assist in decision-making. microRNAs (miRNAs), a group of small noncoding RNAs, have been identified as key mediators of cell biology. They are found in a stable form in body fluids and their concentration is altered in response to stress. Previous research has suggested that the miRNA signature constitutes a novel source of noninvasive biomarkers for a wide array of cardiovascular diseases. Specifically, several studies have reported the potential role of miRNAs as clinical indicators among the etiologies of DCM. However, this field has not been reviewed in detail. Here, we summarize the evidence of intracellular and circulating miRNAs in DCM and their usefulness in the development of novel diagnostic, prognostic and therapeutic approaches, with a focus on DCM etiology. Although the findings are still preliminary, due to methodological and technical limitations and the lack of robust population-based studies, miRNAs constitute a promising tool to assist in the clinical management of DCM.
Copyright © 2019 Elsevier Inc. All rights reserved.
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Multimodality imaging in the diagnosis, risk stratification, and management of patients with dilated cardiomyopathies: an expert consensus document from the European Association of Cardiovascular Imaging.
Eur Heart J Cardiovasc Imaging2019 Aug;():. doi: jez178.
Donal Erwan, Delgado Victoria, Bucciarelli-Ducci Chiara, Galli Elena, Haugaa Kristina H, Charron Philippe, Voigt Jens-Uwe, Cardim Nuno, Masci P G, Galderisi Maurizio, Gaemperli Oliver, Gimelli Alessia, Pinto Yigal M, Lancellotti Patrizio, Habib Gilbert, Elliott Perry, Edvardsen Thor, Cosyns Bernard, Popescu Bogdan A, ,
Abstract
Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular or biventricular dilatation and systolic dysfunction in the absence of abnormal loading conditions or coronary artery disease sufficient to explain these changes. This is a heterogeneous disease frequently having a genetic background. Imaging is important for the diagnosis, the prognostic assessment and for guiding therapy. A multimodality imaging approach provides a comprehensive evaluation of all the issues related to this disease. The present document aims to provide recommendations for the use of multimodality imaging according to the clinical question. Selection of one or another imaging technique should be based on the clinical condition and context. Techniques are presented with the aim to underscore what is 'clinically relevant' and what are the tools that 'can be used'. There remain some gaps in evidence on the impact of multimodality imaging on the management and the treatment of DCM patients where ongoing research is important.
Published on behalf of the European Society of Cardiology. All rights reserved. © The Author(s) 2019. For permissions, please email: journals.permissions@oup.com.
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Role of the lysyl oxidase enzyme family in cardiac function and disease.
Cardiovasc Res2019 Aug;():. doi: cvz176.
Al-U'datt Doa'a, Allen Bruce G, Nattel Stanley,
Abstract
Heart diseases are a major cause of morbidity and mortality world-wide. Lysyl oxidase (LOX) and related LOX-like (LOXL) isoforms play a vital role in remodelling the extracellular matrix (ECM). The LOX family controls ECM formation by cross-linking collagen and elastin chains. LOX/LOXL proteins are copper-dependent amine oxidases that catalyse the oxidation of lysine, causing cross-linking between the lysine moieties of lysine-rich proteins. Dynamic changes in LOX and LOXL protein-expression occur in a variety of cardiac pathologies; these changes are believed to be central to the associated tissue-fibrosis. An awareness of the potential pathophysiological importance of LOX has led to the evaluation of interventions that target LOX/LOXL proteins for heart-disease therapy. The purposes of this review article are: (i) to summarize the basic biochemistry and enzyme function of LOX and LOXL proteins; (ii) to consider their tissue and species distribution; and (iii) to review the results of experimental studies of the roles of LOX and LOXL proteins in heart disease, addressing involvement in the mechanisms, pathophysiology and therapeutic responses based on observations in patient samples and relevant animal models. Therapeutic targeting of LOX family enzymes has shown promising results in animal models, but small-molecule approaches have been limited by non-specificity and off-target effects. Biological approaches show potential promise but are in their infancy. While there is strong evidence for LOX-family protein participation in heart failure, myocardial infarction, cardiac hypertrophy, dilated cardiomyopathy, atrial fibrillation and hypertension, as well as potential interest as therapeutic targets, the precise involvement of LOX-family proteins in heart disease requires further investigation.
Published on behalf of the European Society of Cardiology. All rights reserved. © The Author(s) 2019. For permissions, please email: journals.permissions@oup.com.
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Perceptions of Risk of Cardiac Arrest in Individuals Living With a Cardiac Inherited Disease: Are the Doctor and the Patient on the Same Page?
Heart Lung Circ2019 Aug;():. doi: S1443-9506(19)31369-1.
O'Donovan Claire E, Skinner Jonathan R, Broadbent Elizabeth,
Abstract
BACKGROUND:
Risk perceptions influence patient engagement with treatment recommendations, yet it is unknown whether patients with a cardiac inherited disease (CID) hold accurate risk perceptions. The study aimed to examine whether CID patients' and clinician's risk perceptions correlate and factors associated with patient perceptions.
METHODS:
202 CID patients (of 618 [36%]) participated in a postal survey assessing perceived risk of aborted cardiac arrest or sudden cardiac death (ACA/SCD). Median age was 53 (16 to 83 years); 86 had Long QT Syndrome (LQTS), 69 had hypertrophic cardiomyopathy, 12 had dilated cardiomyopathy, and 27 had 'other'. Clinical and genetic characteristics were collected from the CID registry; clinical estimate of 5-year risk was determined for LQTS participants (n?=?77) using a combination of cardiac arrest or syncope history, maximal QTc length, age, sex and genotype.
RESULTS:
Patients' risk perceptions of ACA/SCD ranged from 0 to 100%, (median 20%). Greater risk perceptions were associated with: non-New Zealand (NZ) Europeans (p?
CONCLUSION:
Cardiac inherited disease patients' risk perceptions correlate poorly with those of the clinician. Patients overestimating risk tend to have physical symptoms usually unrelated to their CID, and underlying anxiety. Techniques to better communicate risk are needed.
Copyright © 2019 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.
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