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Pubblicazioni recenti - dilated cardiomyopathy
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The ACTN3 577XX null genotype is associated with low left ventricular dilation-free survival rate in patients with Duchenne muscular dystrophy: ACTN3 genotype relates cardiomyopathy in DMD.
J Card Fail2020 Aug;():. doi: S1071-9164(20)30906-4.
Nagai Masashi, Awano Hiroyuki, Yamamoto Tetsushi, Bo Ryosuke, Matsuo Masafumi, Iijima Kazumoto,
Abstract
BACKGROUND:
Duchenne muscular dystrophy (DMD) is a fatal progressive muscle-wasting disease caused by mutations in the DMD gene. Dilated cardiomyopathy is the leading cause of death in DMD; therefore, further understanding of this complication is essential to reduce morbidity and mortality.
METHODS:
A common null variant (R577X) in the ACTN3 gene, which encodes ?-actinin-3, has been studied in association with muscle function in healthy individuals, however not yet examined with cardiac phenotype in DMD. Here, we determined the ACTN3 genotype in 163 Patients with DMD and examined the correlation between ACTN3 genotypes and echocardiographic findings in 77 of the 163 patients.
RESULTS:
The genotypes 577RR(RR), 577RX(RX), and 577XX(XX) were identified in 13 (17%), 44 (57%), and 20 (26%) of 77 patients, respectively. We estimated cardiac involvement-free survival rate analyses using Kaplan-Meier curves. Remarkably, the left ventricular (LV) dilation (LVDd>55 mm)-free survival rate was significantly lower in XX null genotype patients (P<0.01). XX null genotype showed a higher risk for LV dilation (hazard ratio 9.04).
CONCLUSIONS:
This study revealed that ACTN3 XX null genotype was associated with a lower LV dilation-free survival rate in DMD. These results suggest that ACTN3 genotype should be determined at the time of diagnosis of DMD to improve patients' cardiac outcomes.
Copyright © 2020. Published by Elsevier Inc.
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New Insights in RBM20 Cardiomyopathy.
Curr Heart Fail Rep2020 Aug;():. doi: 10.1007/s11897-020-00475-x.
Lennermann D, Backs J, van den Hoogenhof M M G,
Abstract
PURPOSE OF REVIEW:
This review aims to give an update on recent findings related to the cardiac splicing factor RNA-binding motif protein 20 (RBM20) and RBM20 cardiomyopathy, a form of dilated cardiomyopathy caused by mutations in RBM20.
RECENT FINDINGS:
While most research on RBM20 splicing targets has focused on titin (TTN), multiple studies over the last years have shown that other splicing targets of RBM20 including Ca/calmodulin-dependent kinase II? (CAMK2D) might be critically involved in the development of RBM20 cardiomyopathy. In this regard, loss of RBM20 causes an abnormal intracellular calcium handling, which may relate to the arrhythmogenic presentation of RBM20 cardiomyopathy. In addition, RBM20 presents clinically in a highly gender-specific manner, with male patients suffering from an earlier disease onset and a more severe disease progression. Further research on RBM20, and treatment of RBM20 cardiomyopathy, will need to consider both the multitude and relative contribution of the different splicing targets and related pathways, as well as gender differences.
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Massive Right Heart Thrombus Causing Complete Cardiac Obstruction Relieved by Thrombolysis: A Case Report.
Eur J Case Rep Intern Med2020 ;7(8):001644. doi: 10.12890/2020_001644.
Wong Christopher Cy, Yiannikas John,
Abstract
Background:
Right heart thrombus (RHT) is a medical condition associated with acute pulmonary embolism and congestive cardiac failure. Rapid recognition is essential for instituting early treatment and preventing adverse outcomes.
Case summary:
A 55-year-old male presented with symptoms of congestive cardiac failure complicated by cardiac arrest. Initial transthoracic echocardiography (TTE) demonstrated moderate impairment of both ventricles and a moderately dilated right ventricle (RV). After initial improvement with heart failure treatment, the patient subsequently had a second cardiac arrest. Bedside TTE revealed complete RV obstruction by thrombus, and intravenous thrombolysis was immediately instituted, with complete dissolution of the thrombus and haemodynamic recovery 15 minutes after treatment. Unfortunately, the patient suffered significant hypoxic brain injury and did not survive.
Discussion:
RHT can manifest acutely in a dramatic fashion with cardiac arrest. Bedside TTE is key to making a rapid diagnosis in this setting to allow early administration of thrombolytic therapy.
LEARNING POINTS:
Right heart thrombus (RHT) may manifest acutely as cardiac arrest in patients with underlying cardiomyopathy.Echocardiography is essential for rapid diagnosis of RHT.Thrombolysis can lead to rapid thrombus dissolution and haemodynamic improvement.
© EFIM 2020.
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Spectrum of heart failure in sub-Saharan Africa: data from a tertiary hospital-based registry in the eastern center of Burkina Faso.
Pan Afr Med J2020 ;36():30. doi: 10.11604/pamj.2020.36.30.19321.
Mandi Dakaboué Germain, Bamouni Joel, Yaméogo Rélwendé Aristide, Naďbé Dangwé Temoua, Kaboré Elisé, Kambiré Yibar, Kologo Koudougou Jonas, Millogo Georges Rosario Christian, Zabsonré Patrice,
Abstract
Introduction:
Heart failure (HF) is a strong contributor to non-communicable diseases burden in sub-Saharan Africa (SSA). Few studies have addressed the pattern of HF in Burkina Faso.
Methods:
We conducted a prospective cohort study in patients with acute HF in the Regional Hospital Center of Tenkodogo, eastern region of Burkina Faso. Patients were consecutively enrolled from 1 January 2015 to 31 December 2016 and followed up until June 2017. Primary outcome of interest was mortality.
Results:
Overall 318 of 1805 cardiac cases presented with acute HF (17.62 %). Of the 298 patients included in the analysis process, 239 had de novo HF and 150 were male. The mean age was 58.56 ± 18.54 years. Eighty-eight patients presented with atrial fibrillation. The mean left ventricular ejection fraction (LVEF) was 38.20 ± 12.85 % with reduced ejection fraction (LVEF < 40%) accounting for 59.73% of the cases. Most of the study patients lived in rural areas. Hypertensive heart disease (50.34%) and idiopathic dilated cardiomyopathy (19.80%) were the leading causes of HF. Most patients received renin-angiotensin system blockers contrasting with a lower prescription rate of beta-blockers (99% versus 18.79% respectively). The incidence of all-cause mortality was 31 percent patients-years.
Conclusion:
Heart failure is frequent in SSA, affecting patients at younger age. Predominantly of non-ischemic cause, commonly hypertensive, the disease is associated with high mortality.
© Dakaboué Germain Mandi et al.
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Successful Liver And Kidney Transplantations From A Donor With Left Ventricular Assist Device.
Exp Clin Transplant2020 Aug;():. doi: 10.6002/ect.2019.0152.
Sahinturk Helin, Kaya Deniz, Ersoy Ozgur, Zeyneloglu Pinar, Haberal Mehmet,
Abstract
Organ transplant from donors with ventricular assist devices is not common. Here, we report organ retrieval from a donor with a left ventricular assist device who had been on the heart transplant wait list before a brain death diagnosis. The organ donor was diagnosed with dilated cardiomyopathy and underwent left ventricular assist device surgery for bridging to heart transplant in 2016. Brain death occurred 22 months after implantation of the device at the age of 39 years due to widespread intraparenchymal and subarachnoid hemorrhage. Brain death diagnosis was confirmed with brain perfusion single-photon emission computed tomography. In accordance with the donor's will, the relatives approved organ donation. The donor's organ reserve was assessed to be suitable for liver and kidney transplants, and proper donor care was given. During recovery of organs, the organ transplant team was accompanied by cardiovascular surgeons to control flow of the left ventricular assist device and to ensure optimum organ perfusion. After a successful operation, the liver was transplanted to a patient with primary sclerosing cholangitis who had been on the wait list for liver transplant for 13 years. The kidneys were transplanted to patients awaiting kidney transplant for 31 and 14 years with diagnoses of nephrolithiasis and polycystic kidney disease, respectively. No complications occurred among the liver and kidney transplant recipients. There are few reports of donors with assist devices. This is the first case of an organ donor with an assist device waiting for an organ transplant who became an actual donor in our country.
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Different Manifestations in Familial Isolated Left Ventricular Non-compaction: Two Case Reports and Literature Review.
Front Pediatr2020 ;8():370. doi: 10.3389/fped.2020.00370.
Al Hussein Hamida, Al Hussein Hussam, Stroe Valentin, Harpa Marius, Ghiragosian Claudiu, Goia Cristina Maria, Opris Carmen Elena, Suciu Horatiu,
Abstract
Left ventricular non-compaction (LVNC) is a form of cardiomyopathy characterized by prominent trabeculae and deep intertrabecular recesses which form a distinct "non-compacted" layer in the myocardium. It results from intrauterine arrest of the compaction process of the left ventricular myocardium. Clinical manifestations vary from asymptomatic to heart failure (HF), arrhythmias, or thromboembolic events. We present a case of mother and son diagnosed with isolated LVNC (ILVNC). A 4-years-old male patient, diagnosed at 3 months with ILVNC, and NYHA functional class IV HF, was admitted to the Emergency Institute for Cardiovascular Diseases and Transplantation of Targu Mures, Romania, for cardiologic reevaluation, and diagnosis confirmation. ILVNC was confirmed using echocardiography, revealing a non-compaction to compaction (NC/C) ratio of > 2.7. His evolution was stationary until the age of 8 years, when severe pneumonia caused hemodynamic decompensation, and he was listed for heart transplantation (HT). The patient underwent HT at the age of 11 years with favorable postoperative outcome. Meanwhile, a 22-years-old female patient, mother of the aforementioned patient, was also admitted to our institute due to severe fatigue, dyspnea, and recurrent palpitations with multiple implantable cardioverter defibrillator (ICD) shock delivery. Extensive medical history revealed that a presumptive ILVNC diagnosis was established when she was 11 years old. She was asymptomatic until 18 years old, when 3 months post-partum, she developed NYHA functional class III HF, and subsequently underwent ICD implantation. Her diagnosis was confirmed using multi-detector computed tomography angiography, which revealed a NC/C ratio of > 3.3. ICD adjustments were carried out with a favorable evolution under chronic drug therapy. The last evaluation, at 27 years old, revealed that she was in NYHA functional class II HF. In conclusion, ILVNC, even when familial, can present different clinical pictures and therefore requires different medical approaches.
Copyright © 2020 Al Hussein, Al Hussein, Stroe, Harpa, Ghiragosian, Goia, Opris and Suciu.
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Atrial fibrillation induced by appropriate ventricular antitachycardia pacing in an ICD recipient.
J Cardiol Cases2020 Aug;22(2):94-96. doi: 10.1016/j.jccase.2020.04.009.
Korantzopoulos Panagiotis, Manolis George,
Abstract
In this short communication we briefly describe a 69-year-old man with dilated cardiomyopathy and an implantable cardioverter defibrillator who suffered a prolonged episode of palpitations. The interrogation of the device revealed an episode of ventricular tachycardia successfully treated with antitachycardia pacing. However, just before ventricular tachycardia termination, atrial fibrillation ensued. This specific proarrhythmic effect of antitachycardia pacing is concisely discussed. Retrograde conduction from the ventricles to the atria causing increased atrial pressures and mechano-electrical feedback, in the presence of a vulnerable atrial substrate, seems to be the most plausible mechanism. < Atrial fibrillation may be induced by antitachycardia pacing for ventricular tachycardia in vulnerable patients with an implantable cardioverter defibrillator. Although the incidence of this phenomenon seems to be rare it may have significant clinical impact and should be further studied.>.
© 2020 Published by Elsevier Ltd on behalf of Japanese College of Cardiology.
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Sudden onset of thyrotoxicosis induced by amiodarone mimicking low cardiac output syndrome in a patient with dilated cardiomyopathy.
J Cardiol Cases2020 Aug;22(2):81-84. doi: 10.1016/j.jccase.2020.05.011.
Iyama Keita, Kawano Hiroaki, Ando Takao, Ikeda Satoshi, Maemura Koji,
Abstract
Amiodarone-induced thyrotoxicosis (AIT) is a complication of amiodarone therapy that can be difficult to diagnose and manage, especially in patients with dilated cardiomyopathy (DCM). We describe a 47-year-old female patient with DCM who experienced the sudden onset of type II AIT with symptoms mimicking low cardiac output syndrome, namely, general malaise and nausea. Early type II AIT was diagnosed, and effectively treated with prednisolone. < Amiodarone-induced thyrotoxicosis (AIT) is a complication of amiodarone therapy that can be difficult to diagnose and manage, especially in patients with dilated cardiomyopathy because of symptoms mimicking low cardiac output syndrome. We have to consider sudden onset of AIT in patients treated with amiodarone not to be late for appropriate management for it.>.
© 2020 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.
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Radixin Relocalization and Nonmuscle -Actinin Expression Are Features of Remodeling Cardiomyocytes in Adult Patients with Dilated Cardiomyopathy.
Dis Markers2020 ;2020():9356738. doi: 10.1155/2020/9356738.
Cetinkaya Ayse, Berge Benedikt, Sen-Hild Bedriye, Troidl Kerstin, Gajawada Praveen, Kubin Natalia, Valeske Klaus, Schranz Dietmar, Akintürk Hakan, Schönburg Markus, Kubin Thomas, Choi Yeong-Hoon, Richter Manfred,
Abstract
Background:
Pediatric patients show an impressive capacity of cardiac regeneration. In contrast, severely deteriorated adult hearts do usually not recover. Since cardiac remodeling-involving the expression of fetal genes-is regarded as an adaptation to stress, we compared hearts of adult patients suffering from dilated cardiomyopathy (DCM) with remodeling of cultured neonatal (NRC) as well as adult (ARC) rat cardiomyocytes and the developing postnatal myocardium.
Methods:
NRC and ARC were stimulated with serum and cardiac morphogens derived from DCM hearts. Protein synthesis (PS) as well as protein accumulation (PA) was measured, and cell survival was determined under ischemic conditions. Fetal markers were investigated by Western blot. Biomarkers of remodeling were analyzed in controls, DCM, and 2- to 6-month-old children with tetralogy of Fallot as well as in neonatal and adult rats by immunofluorescence.
Results:
In NRC, serum and morphogens strongly stimulated PS and PA and the reestablishment of cell-cell contacts (CCC). In ARC, both stimulants increased PS and CCC, but PA was only elevated after serum stimulation. In contrast to serum, morphogen treatment resulted in the expression of fetal genes in ARC as determined by nonmuscle -actinin-1 and -actinin-4 expression (NM-actinins) and was associated with increased survival under ischemia. NM-actinins were present in cardiomyocytes of DCM in a cross-striated pattern reminiscent of sarcomeres as well as in extensions of the area of the intercalated disc (ID). NM-actinins are expressed in NRC and in the developing heart. Radixin staining revealed remodeling of the area of the ID in DCM almost identical to stimulated cultured ARC.
Conclusions:
Remodeling was similar in ARC and in cardiomyocytes of DCM suggesting evolutionary conserved mechanisms of regeneration. Despite activation of fetal genes, the atrophy of ARC indicates differences in their regenerative capacity from NRC. Cardiac-derived factors induced NM-actinin expression and increased survival of ischemic ARC while circulating molecules were less effective. Identification of these cardiac-derived factors and determination of their individual capacity to heal or damage are of particular importance for a biomarker-guided therapy in adult patients.
Copyright © 2020 Ayse Cetinkaya et al.
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BETs that cover the spread from acquired to heritable heart failure.
J Clin Invest2020 Aug;():. doi: 10.1172/JCI140304.
Alexanian Michael, Haldar Saptarsi M,
Abstract
Heart failure (HF) with reduced contractile function is a common and lethal syndrome in which the heart cannot pump blood to adequately meet bodily demands, resulting in high mortality despite the current standard of care. In modern societies, the most common drivers of HF are ischemic heart disease and hypertension. However, in a substantial subset of cases, patients present with dilated and poorly contracting hearts without evidence of common inciting stressors, a syndrome called dilated cardiomyopathy (DCM). Genome sequencing has identified a host of deleterious germline variants in key cardiomyocyte genes as causes of heritable DCM, including mutations in LMNA, which encodes the nuclear lamina-associated protein lamin A/C. In this issue of the JCI, Auguste et al. generate a mouse model of DCM in which they delete Lmna in cardiomyocytes and discover that bromodomain and extraterminal (BET) protein activation is a druggable epigenetic mechanism of disease pathogenesis in this heritable HF syndrome.
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Sex-Related Differences in Dilated Cardiomyopathy with a Focus on Cardiac Dysfunction in Oncology.
Curr Cardiol Rep2020 Aug;22(10):102. doi: 10.1007/s11886-020-01377-z.
D'Amario Domenico, Camilli Massimiliano, Migliaro Stefano, Canonico Francesco, Galli Mattia, Arcudi Alessandra, Montone Rocco Antonio, Borovac Josip Andjelo, Crea Filippo, Savarese Gianluigi,
Abstract
PURPOSE OF REVIEW:
The aim of this report is to describe the main aspects of sex-related differences in non-ischemic dilated cardiomyopathies (DCM), focusing on chemotherapy-induced heart failure (HF) and investigating the possible therapeutic implications and clinical management applications in the era of personalized medicine.
RECENT FINDINGS:
In cardio-oncology, molecular and multimodality imaging studies confirm that sex differences do exist, affecting the therapeutic cardioprotective strategies and, therefore, the long-term outcomes. Interestingly, compelling evidences suggest that sex-specific characteristics in drug toxicity might predict differences in the therapeutic response, most likely due to the tangled interplay between cancer and HF, which probably share common underlying mechanisms. Cardiovascular diseases show many sex-related differences in prevalence, etiology, phenotype expression, and outcomes. Complex molecular mechanisms underlie this diverse pathological manifestations, from sex-determined differential gene expression to sex hormone interaction with their receptors in the heart. Non-ischemic DCM is an umbrella definition that incorporates several etiologies, including chemotherapy-induced cardiomyopathies. The role of sex as a risk factor for cardiotoxicity is poorly explored. However, understanding the various features of disease manifestation and outcomes is of paramount importance for a prompt and tailored evaluation.
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Waitlist and post- heart transplant outcomes for children with non-dilated cardiomyopathy.
Ann Thorac Surg2020 Aug;():. doi: S0003-4975(20)31282-0.
Amdani Shahnawaz, Boyle Gerard, Elizabeth Saarel, Godown Justin, Liu Wei, Worley Sarah, Karamlou Tara,
Abstract
BACKGROUND:
While outcomes for pediatric cardiomyopathy (CMP) patients have improved, an understanding of outcomes by CMP phenotype is essential. This study assessed changes in waitlist and post-transplant survival in non-dilated cardiomyopathy (DCM) patients over 2 decades, explored ventricular assist device (VAD) utilization in this cohort and identified risk factors for waitlist and post-transplant mortality in the current era.
METHODS:
Pediatric patients with a diagnosis of CMP listed for heart transplantation during three eras: Era 1: 3/5/1999 -12/31/2004; Era 2:1/1/2005- 12/15/2011 and Era 3 (current era):12/16/2011- 2/28/2018 were included. Multivariable Cox proportional hazards regression was performed to assess waitlist and post-transplant survival.
RESULTS:
Compared to patients with DCM, those with hypertrophic and restrictive cardiomyopathy in the current era are less likely to be on VAD (23.5 vs. 2.7 vs. 4.5%); listed UNOS Status 1A (75.6 vs. 39.8 vs. 34.8%), and more likely to have longer waitlist times (p<0.01 for all). Only 3.3% hypertrophic and 2.4% restrictive cardiomyopathy patients had VAD implantation, however, VAD use did not adversely impact waitlist survival in non-DCM patients. Significant improvements have occurred in waitlist survival of hypertrophic and post-transplant survival of both types of non-DCM patients.
CONCLUSIONS:
Currently, waitlist and post-transplant survival is similar for all CMP phenotypes. VAD use is low in patients with non-DCM, however, it did not increase waitlist mortality in adjusted analysis. Further studies in patients with non-DCM are needed to determine optimal timing and anatomic characteristics most likely to benefit from VAD implantation during the waitlist period.
Copyright © 2020. Published by Elsevier Inc.
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Infections in Children With Left Ventricular Assist Device.
Transpl Infect Dis2020 Aug;():e13439. doi: 10.1111/tid.13439.
?en Semra, Ülger Zülal, ?ahbudak Bal Zümrüt, Özbaran Mustafa,
Abstract
BACKGROUND:
There are limited data about pediatric left ventricular assist device (VAD) infections in developing countries. This study aimed to investigate device postimplantation infectious complications and their pathogenic profile.
METHODS:
Data were analyzed from patient charts involving 27 patients with dilated cardiomyopathy who underwentleft VAD implantation at a leading tertiary care center in Turkey.
RESULTS:
The study included 17 boys and ten girls with a median age of 12.22 years (range 17 months to 18 years). Nineteen patients diagnosed with idiopathic, three were diagnosed with familial dilated cardiomyopathy. Twenty-two out of 27 subjects (%81.48)developed 80 infection episodes in total. The most common type of left VAD-specific infection was the exit site of the driveline. Infected patients with left VAD had a significantly prolonged hospitalization compared to the patients without infection (P = 0.014). Infection-induced pediatric intensive care unit (ICU) admission was higher in patients with fungal infection(P = 0.023). Gram-positive staphylococci were the most commonly isolated bacterial pathogens, followed by Gram-negativebacteria. Five patients developed fungal infections. None of the fungal infection patients underwent transplantation(P = 0.035). Seven deaths occurred in our study group. All deaths were in the infected group. Mortality was associated with the presence of multidrug-resistant Gram-negative bacterial infections (P = 0.015), an increased number ofinfection episodes (P = 0.003), hospitalization due to infection (P = 0.003).
CONCLUSION:
Ventricular assist device related infections were frequent among our study patients. The predominantly isolated agents were Gram-positive bacterial pathogens. However, the emergence of relatively high rate of Gram-negative bacterial and fungal infections was associated with mortality before the transplantation. Establishing local programs for surveillance data, controlling for infection rates, and antibiotic stewardship is essential to reduce mortality of VAD patients in developing countries.
This article is protected by copyright. All rights reserved.
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ESC EORP Cardiomyopathy Registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients.
ESC Heart Fail2020 Aug;():. doi: 10.1002/ehf2.12925.
Heliö Tiina, Elliott Perry, Koskenvuo Juha W, Gimeno Juan R, Tavazzi Luigi, Tendera Michal, Kaski Juan Pablo, Mansencal Nicolas, Bili?ska Zofia, Carr-White Gerry, Damy Thibaud, Frustaci Andrea, Kindermann Ingrid, Ripoll-Vera Tomas, ?elutkien? Jelena, Axelsson Anna, Lorenzini Massimiliano, Saad Aly, Maggioni Aldo P, Laroche Cécile, Caforio Alida L P, Charron Philippe, ,
Abstract
AIMS:
Cardiomyopathies comprise a heterogeneous group of diseases, often of genetic origin. We assessed the current practice of genetic counselling and testing in the prospective European Society of Cardiology EURObservational Research Programme Cardiomyopathy Registry.
METHODS AND RESULTS:
A total of 3208 adult patients from 69 centres in 18 countries were enrolled. Genetic counselling was performed in 60.8% of all patients [75.4% in hypertrophic cardiomyopathy (HCM), 39.2% in dilated cardiomyopathy (DCM), 70.8% in arrhythmogenic right ventricular cardiomyopathy (ARVC), and 49.2% in restrictive cardiomyopathy (RCM), P < 0.001]. Comparing European geographical areas, genetic counselling was performed from 42.4% to 83.3% (P < 0.001). It was provided by a cardiologist (85.3%), geneticist (15.1%), genetic counsellor (11.3%), or a nurse (7.5%) (P < 0.001). Genetic testing was performed in 37.3% of all patients (48.8% in HCM, 18.6% in DCM, 55.6% in ARVC, and 43.6% in RCM, P < 0.001). Index patients with genetic testing were younger at diagnosis and had more familial disease, family history of sudden cardiac death, or implanted cardioverter defibrillators but less co-morbidities than those not tested (P < 0.001 for each comparison). At least one disease-causing variant was found in 41.7% of index patients with genetic testing (43.3% in HCM, 33.3% in DCM, 51.4% in ARVC, and 42.9% in RCM, P = 0.13).
CONCLUSIONS:
This is the first detailed report on the real-life practice of genetic counselling and testing in cardiomyopathies in Europe. Genetic counselling and testing were performed in a substantial proportion of patients but less often than recommended by European guidelines and much less in DCM than in HCM and ARVC, despite evidence for genetic background.
© 2020 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of the European Society of Cardiology.
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Pulmonary Artery Banding for Ventricular Rehabilitation in Infants With Dilated Cardiomyopathy: Early Results in a Single-Center Experience.
Front Pediatr2020 ;8():347. doi: 10.3389/fped.2020.00347.
Di Candia Angela, Castaldi Biagio, Bordin Giulia, Cerutti Alessia, Reffo Elena, Biffanti Roberta, Di Salvo Giovanni, Vida Vladimiro L, Padalino Massimo A,
Abstract
Pulmonary artery banding (PAB) is reported as an innovative strategy for children with end-stage heart failure (ESHF) to bridge to transplantation or recovery. We report our early experience with PAB to evaluate outcomes, indications, and limitations. This is a single-center prospective clinical study, including infants and children admitted for ESHF owing to dilated cardiomyopathy (DCM) with preserved right ventricular function after failure of maximal conventional therapy. All patients underwent perioperative anticongestive medical therapy with ACE inhibitor, beta blocker, and spironolactone. Post-operatively, all patients underwent echocardiographic follow-up to assess myocardial recovery. We selected five patients (four males) who underwent PAB at a median age of 8.6 months (range 3.9-42.2 months), with preoperative ejection fraction (EF) <30%. Sternal closure was delayed in all. One patient did not improve after PAB and underwent Berlin Heart implantation after 33 days, followed by heart transplant after 13 months. Four patients were discharged home on full anticongestive therapy. However, 2 months after discharge, one patient experienced severe acute heart failure secondary to pneumonia, which required mechanical circulatory support, and the patient underwent a successful heart transplant after 21 days. The remaining three patients are doing well at home, 22.4, 16.9, and 15.4 months after PAB. They all underwent elective percutaneous de-banding, 18.5, 4.8, and 10.7 months after PAB. EF increased from 17.7 ± 8.5% to 63.3 ± 7.6% ( = 0.03), and they have all been delisted. Use of PAB may be an effective alternative to mechanical support in selected infants for bridging to transplant or recovery. Better results seem to occur in patients aged <12 months. Further experience and research are required to identify responders and non-responders to this approach.
Copyright © 2020 Di Candia, Castaldi, Bordin, Cerutti, Reffo, Biffanti, Di Salvo, Vida and Padalino.
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The Roles of Noncardiomyocytes in Cardiac Remodeling.
Int J Biol Sci2020 ;16(13):2414-2429. doi: 10.7150/ijbs.47180.
Yang Dan, Liu Han-Qing, Liu Fang-Yuan, Tang Nan, Guo Zhen, Ma Shu-Qing, An Peng, Wang Ming-Yu, Wu Hai-Ming, Yang Zheng, Fan Di, Tang Qi-Zhu,
Abstract
Cardiac remodeling is a common characteristic of almost all forms of heart disease, including cardiac infarction, valvular diseases, hypertension, arrhythmia, dilated cardiomyopathy and other conditions. It is not merely a simple outcome induced by an increase in the workload of cardiomyocytes (CMs). The remodeling process is accompanied by abnormalities of cardiac structure as well as disturbance of cardiac function, and emerging evidence suggests that a wide range of cells in the heart participate in the initiation and development of cardiac remodeling. Other than CMs, there are numerous noncardiomyocytes (non-CMs) that regulate the process of cardiac remodeling, such as cardiac fibroblasts and immune cells (including macrophages, lymphocytes, neutrophils, and mast cells). In this review, we summarize recent knowledge regarding the definition and significant effects of various non-CMs in the pathogenesis of cardiac remodeling, with a particular emphasis on the involved signaling mechanisms. In addition, we discuss the properties of non-CMs, which serve as targets of many cardiovascular drugs that reduce adverse cardiac remodeling.
© The author(s).
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Response to eLetter: Fascinating helpful article, but how typical were the patients with DCM and what does this tell us?
Heart2020 Aug;():. doi: heartjnl-2020-317724.
Millar Lynne Martina, Fanton Zephryn, Finocchiaro Gherardo, Sanchez-Fernandez Gabriel, Dhutia Harshil, Malhotra Aneil, Merghani Ahmed, Papadakis Michael, Behr Elijah R, Bunce Nick, Oxborough David, Reed Matthew, O'Driscoll Jamie, Tome Esteban Maria Teresa, D'Silva Andrew, Carr-White Gerry, Webb Jessica, Sharma Rajan, Sharma Sanjay,
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Fascinating helpful article, but how typical were the patients with DCM and what does this tell us?
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The role of phospholamban and GSK3 in regulating rodent cardiac SERCA function.
Am J Physiol Cell Physiol2020 Aug;():. doi: 10.1152/ajpcell.00318.2020.
Hamstra Sophie I, Whitley Kennedy C, Baranowski Ryan W, Kurgan Nigel, Braun Jessica L, Messner Holt N, Fajardo Val A,
Abstract
Cardiac contractile function is largely mediated by the regulation of Ca cycling throughout the lifespan. The sarco(endo)plasmic reticulum Ca ATPase (SERCA) pump is paramount to cardiac Ca regulation, and it is well established that SERCA dysfunction pathologically contributes to cardiomyopathy and heart failure. Phospholamban (PLN) is a well-known inhibitor of the SERCA pump and its regulation of SERCA2a - the predominant cardiac SERCA isoform - contributes significantly to proper cardiac function. Glycogen synthase kinase 3 (GSK3) is a serine/threonine kinase involved in several metabolic pathways and we and others have shown that it regulates SERCA function. In this minireview, we highlight the underlying mechanisms behind GSK3's regulation of SERCA function specifically discussing changes in SERCA2a and PLN expression, and its potential protection against oxidative stress. Ultimately, these recent findings that we discuss could have clinical implications in the treatment and prevention of cardiomyopathies and heart failure.
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Cardiac Emerinopathy: A Non-syndromic Nuclear Envelopathy with Increased Risk of Thromboembolic Stroke due to Progressive Atrial Standstill and Left Ventricular Non-compaction.
Circ Arrhythm Electrophysiol2020 Jul;():. doi: 10.1161/CIRCEP.120.008712.
Ishikawa Taisuke, Mishima Hiroyuki, Barc Julien, Takahashi Masanori P, Hirono Keiichi, Terada Shigenori, Kowase Shinya, Sato Teruki, Mukai Yasushi, Yui Yoshiaki, Ohkubo Kimie, Kimoto Hiroki, Watanabe Hiroyuki, Hata Yukiko, Aiba Takeshi, Ohno Seiko, Chishaki Akiko, Shimizu Wataru, Horie Minoru, Ichida Fukiko, Nogami Akihiko, Yoshiura Koh-Ichiro, Schott Jean-Jacques, Makita Naomasa,
Abstract
- Mutations in the nuclear envelope genes encoding lamin A/C () and emerin () are responsible for Emery-Dreifuss muscular dystrophy. However, mutations often manifest dilated cardiomyopathy with conduction disturbance without obvious skeletal myopathic complications. On the other hand, the phenotypic spectrums of mutations are less clear. Our aims were to determine the prevalence of non-syndromic forms of emerinopathy which may underlie genetically undefined isolated cardiac conduction disturbance, and the etiology of thromboembolic complications associated with mutations. - Targeted exon sequencing was performed in 87 probands with familial sick sinus syndrome (n=36) and a progressive cardiac conduction defect (n=51). - We identified three X-linked recessive mutations (start-loss, splicing, missense) in families with cardiac conduction disease. All three probands shared a common clinical phenotype of progressive atrial arrhythmias that ultimately resulted in atrial standstill associated with left ventricular non-compaction (LVNC), but they lacked early contractures and progressive muscle wasting and weakness characteristic of Emery-Dreifuss muscular dystrophy. Because the association of LVNC with has never been reported, we further genetically screened 102 LVNC patients, and found a frameshift mutation in a boy with progressive atrial standstill and LVNC without complications of muscular dystrophy. All six male mutation carriers of four families underwent pacemaker or defibrillator implantation, whereas two female carriers were asymptomatic. Notably, a strong family history of stroke observed in these families was probably due to the increased risk of thromboembolism attributable to both atrial standstill and LVNC. - Cardiac emerinopathy is a novel non-syndromic X-linked progressive atrial standstill associated with LVNC and increased risk of thromboembolism.
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