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Cardiomyopathy (CM) is a heterogeneous group of myocardial diseases in children. This study aimed to identify demographic features, clinical presentation and prognosis of children with CM. Clinical characteristics and prognostic factors associated with mortality were evaluated by Cox proportional hazards regression analyses. Genetic testing was also conducted on a portion of patients. Among the 317 patients, 40.1%, 25.2%, 24.6% and 10.1% were diagnosed with dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction cardiomyopathy (LVNC) and restrictive cardiomyopathy (RCM), respectively. The most common symptom observed was dyspnea (84.2%). Except for HCM, the majority of patients were classified as NYHA/Ross class III or IV. The five-year survival rates were 75.5%, 67.3%, 74.1% and 51.1% in DCM, HCM, LVNC and RCM, respectively. The ten-year survival rates were 60.1%, 56.1%, 57.2% and 41.3% in DCM, HCM, LVNC and RCM, respectively. Survival was inversely related to NYHA/Ross class III or IV in patients with DCM, HCM and RCM. Out of 42 patients, 32 were reported to carry gene mutations., Conclusions: This study demonstrates that CM, especially RCM, is related to a high incidence of death. NYHA/Ross class III or IV is a predictor of mortality in the patients and gene mutations may be a common cause., Trial Registration: MR-50-23-011798., What Is Known: • Cardiomyopathy (CM) is a heterogeneous group of myocardial diseases and one of the leading causes of heart failure in children due to the lack of effective treatments. • There remains scarce data on Asian pediatric populations though emerging studies have assessed the clinical characteristics and outcomes of CM., What Is New: • A retrospective study was conducted and the follow-up records were established to investigate the clinical characteristics, the profile of gene mutations and prognostic outcomes of children with CM in Western China. • CM, especially RCM, is related to a high incidence of death. NYHA/Ross class III or IV is a predictor of mortality in the patients and gene mutations may be a common cause., (© 2024. The Author(s).)

Alpha-B-crystallin, a member of the small heat shock family of proteins, has been implicated in a variety of cardiomyopathies and in normal cardiac homeostasis. It is known to function as a molecular chaperone, particularly for desmin, but also interacts with a wide variety of additional proteins. The molecular chaperone function is also enhanced by signal-dependent phosphorylation at specific residues under stress conditions. Naturally occurring mutations in CRYAB , the gene that encodes alpha-B-crystallin, have been suggested to alter ionic intermolecular interactions that affect dimerization and chaperone function. These mutations have been associated with myofibrillar myopathy, restrictive cardiomyopathy, and hypertrophic cardiomyopathy and promote pathological hypertrophy through different mechanisms such as desmin aggregation, increased reductive stress, or activation of calcineurin-NFAT signaling. This review will discuss the known mechanisms by which alpha-B-crystallin functions in cardiac homeostasis and the pathogenesis of cardiomyopathies and provide insight into potential future areas of exploration.

Background: In 2018, an algorithm-based allocation system for heart transplantation (HT) was implemented in France. Its effect on access to HT of patients with rare causes of heart failure (HF) has not been assessed., Methods: In this national study, including adults listed for HT between 2018 and 2020, we analyzed waitlist and posttransplant outcomes of candidates with rare causes of HF (restrictive cardiomyopathy [RCM], hypertrophic cardiomyopathy, and congenital heart disease). The primary end point was death on the waitlist or delisting for clinical deterioration. Secondary end points included access to HT and posttransplant mortality. The cumulative incidence of waitlist mortality estimated with competing risk analysis and incidence of transplantation were compared between diagnosis groups. The association of HF cause with outcomes was determined by Fine-Gray or Cox models., Results: Overall, 1604 candidates were listed for HT. At 1 year postlisting, 175 patients met the primary end point and 1040 underwent HT. Candidates listed for rare causes of HF significantly differed in baseline characteristics and had more frequent score exceptions compared with other cardiomyopathies (31.3%, 32.0%, 36.4%, and 16.7% for patients with hypertrophic cardiomyopathy, RCM, congenital heart disease, and other cardiomyopathies). The cumulative incidence of death on the waitlist and probability of HT were similar between diagnosis groups ( P =0.17 and 0.40, respectively). The adjusted risk of death or delisting for clinical deterioration did not significantly differ between candidates with rare and common causes of HF (subdistribution hazard ratio (HR): hypertrophic cardiomyopathy, 0.51 [95% CI, 0.19-1.38]; P =0.18; RCM, 1.04 [95% CI, 0.42-2.58]; P =0.94; congenital heart disease, 1.82 [95% CI, 0.78-4.26]; P =0.17). Similarly, the access to HT did not significantly differ between causes of HF (hypertrophic cardiomyopathy: HR, 1.18 [95% CI, 0.92-1.51]; P =0.19; RCM: HR, 1.19 [95% CI, 0.90-1.58]; P =0.23; congenital heart disease: HR, 0.76 [95% CI, 0.53-1.09]; P =0.14). RCM was an independent risk factor for 1-year posttransplant mortality (HR, 2.12 [95% CI, 1.06-4.24]; P =0.03)., Conclusions: Our study shows equitable waitlist outcomes among HT candidates whatever the indication for transplantation with the new French allocation scheme., Competing Interests: Disclosures None.

Background: Diabetes mellitus (DM) is the most common metabolic disease worldwide and a major risk factor for adverse cardiovascular events, while the additive effects of DM on left ventricular (LV) deformation in the restrictive cardiomyopathy (RCM) cohort remain unclear. Accordingly, we aimed to investigate the additive effects of DM on LV deformation in patients with RCM., Materials and Methods: One hundred thirty-six RCM patients without DM [RCM(DM-)], 46 with DM [RCM (DM+)], and 66 age- and sex-matched control subjects who underwent cardiac magnetic resonance (CMR) scanning were included. LV function, late gadolinium enhancement (LGE) type, and LV global peak strains (including radial, circumferential, and longitudinal directions) were measured. The determinant of reduced LV global myocardial strain for all RCM patients was assessed using multivariable linear regression analyses. The receiver operating characteristic curve (ROC) was performed to illustrate the relationship between DM and decreased LV deformation., Results: Compared with the control group, RCM (DM-) and RCM(DM+) patients presented increased LV end-diastolic index and end-systolic volume index and decreased LV ejection fraction. LV GPS in all three directions and longitudinal PDSR progressively declined from the control group to the RCM(DM-) group to the RCM(DM+) group (all p < 0.05). DM was an independent determinant of impaired LV GPS in the radial, circumferential, and longitudinal directions and longitudinal PDSR (β =  - 0.217, 0.176, 0.253, and - 0.263, all p < 0.05) in RCM patients. The multiparameter combination, including DM, showed an AUC of 0.81(95% CI 0.75-0.87) to predict decreased LV GLPS and an AUC of 0.69 (95% CI 0.62-0.76) to predict decreased LV longitudinal PDSR., Conclusions: DM may have an additive deleterious effect on LV dysfunction in patients with RCM, especially diastolic dysfunction in RCM patients, indicating the importance of early identification and initiation of treatment of DM in patients with RCM., (© 2023. The Author(s).)

Left ventricular assist devices can reverse pulmonary hypertension in cardiac transplant candidates with heart failure with a reduced ejection fraction. Whether a similar approach is applicable in restrictive cardiomyopathy is uncertain. We report the successful implantation of a Medtronic HVAD left ventricular assist device in a bridge-to-candidacy concept in 2 paediatric patients with restrictive cardiomyopathy., (© The Author(s) 2021. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Left ventricular non-compaction (LVNC) and restrictive cardiomyopathies (RCM) are rare diseases with high morbidity and mortality in the pediatric age group, particularly the restrictive. They can be diagnosed at any age even in fetal life, in isolation or association with other cardiomyopathies or congenital heart disease. The causes may be genetic, neuromuscular, metabolic, storage, or idiopathic disorders. The main morphological characteristic of LVNC is the presence of a non-compact myocar dium with numerous prominent trabeculations and deep recesses, which may results in myocardial dysfunction, malignant arrhythmias and thromboembolism. On the other hand, in RCM there is an abnormal myocardial stiffness, which generates a restrictive ventricular filling and atrial dilatation secondary. Clinically it manifested by severe diastolic dysfunction, pulmonary hypertension, arrhyth mias and sudden death. For both cardiomyopathies, the Doppler color echocardiography, electro cardiography and Holter monitoring of arrhythmias are the gold standard for diagnosis and follow up. Cardiac resonance adds information on functional assessment and quantification of myocardial fibrosis. The therapy is oriented to improve symptoms and quality of life. Patients with severe forms of LVNC and RCM may require extracorporeal ventricular support and cardiac transplantation, even in early stages of the disease. The pediatrician plays an important role in the early recognition of these pathologies for timing to referral as well as in the follow-up and screening for complications. The objective of this review is to update the clinical, genetic, diagnostic, therapeutic issues and prognostic of the LVNC and RCM.

Pure restrictive cardiomyopathy is a strong risk factor for poor outcomes in children with cardiomyopathy on ventricular assist devices. Owing to concomitant right heart failure, children with end-staged restrictive cardiomyopathy who are supported with a ventricular assist device often require a biventricular assist device, which is another risk factor for waitlist mortality in heart transplantation candidates. Herein, we report the case of a 3-year-old boy with pure restrictive cardiomyopathy who successfully underwent heart transplantation after 12 months of support with staged biventricular assist devices. Owing to the progression of diastolic dysfunction, the left ventricular assist device could not provide adequate circulation support. Despite the provision of biventricular assist device support, the patient required a complex management strategy that involved balancing the left and right ventricular assist device supports. We were able to stabilize the patient by careful synchronization of the supports and proceeded to heart transplantation. TRIAL REGISTRATION: Clinical Registration No.: Institutional Review Board of Osaka University Hospital, approval no. 16105.

Left ventricular assist device (LVAD) implantation in patients with advanced heart failure due to hypertrophic or restrictive cardiomyopathy (HCM/RCM) presents technical and physiologic challenges. We conducted a systematic review of observational studies to evaluate the utilization and clinical outcomes associated with LVAD implantation in patients with HCM/RCM and compared these to patients with dilated or ischemic cardiomyopathy (DCM/ICM). We searched MEDLINE, EMBASE, and Scopus from inception through May 2019 and included appropriate studies describing the use of an LVAD in patients with HCM/RCM. We identified six studies with a total of 2,766 patients with HCM/RCM and advanced heart failure, among whom 338 patients (12.2%) underwent LVAD implantation. In patients listed for transplant, the rate of LVAD implantation was significantly lower in patients with HCM/RCM compared to that in patients with DCM/ICM (4.4% vs. 18.2%, p < 0.001). Adverse clinical outcomes were significantly higher in HCM/RCM than in DCM/ICM, including operative/short-term mortality (14.0% vs. 9.0%), right ventricular failure (50.0% vs. 21.0%), infection (15.5% vs. 11.2%), bleeding (40.2% vs. 12.5%), renal failure (15.0% vs. 5.1%), stroke (5.0% vs. 2.4%), and arrhythmias (18.0% vs. 7.7%) (all p values <0.001)., Competing Interests: The authors have no conflicts of interest to report., (Copyright © ASAIO 2020.)

The sarcomere as the smallest contractile unit is prone to alterations in its functional, structural and associated proteins. Sarcomeric dysfunction leads to heart failure or cardiomyopathies like hypertrophic (HCM) or restrictive cardiomyopathy (RCM) etc. Genetic based RCM, a very rare but severe disease with a high mortality rate, might be induced by mutations in genes of non-sarcomeric, sarcomeric and sarcomere associated proteins. In this review, we discuss the functional effects in correlation to the phenotype and present an integrated model for the development of genetic RCM.

Competing Interests: The authors declare that they have no conflict of interest.

Studies have shown that highly selected patients who underwent combined heart-kidney (HK) and heart-liver transplants (HLv) have short- and long-term outcomes comparable to those observed in primary heart transplantation (HT). Adults patients with stage D heart failure that underwent combined HK, HLv, and heart-lung (HL) were identified in the United Network for Organ Sharing registry from 1991 to 2016, with follow-up through March 2018. We conducted inverse probability of treatment weighting survival analysis of long-term survival stratified by type of combined organ transplant, accounting for donor, recipient, and operative characteristics. We identified 2,300 patients who underwent combined organ transplant (HK 1,257, HLv 212, HL 831). HL recipients were more likely white (77%), women (58%), with congenital heart disease (44.5%), and longer waiting list time (median 195 days). HK transplant increased significantly during the study period where as HL decreased significantly. Median survival was 12.2 years for HK (95% confidence intervals [CI] 10.8 to 12.8), 12 for HLv (95% CI 8.6 to 17.6) but significantly lower at 4.5 years for HL (95% CI 3.6 to 5.8). Combined HK and HLv transplantation rates are increasing and long-term survival is comparable to primary HT, unlike HL which is associated with decreasing trends and significantly lower survival., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Systemic sclerosis (SSc) is a rare immune-mediated vasculopathy characterized by fibrosis of the skin and internal organs. Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene producing α-galactosidase-A enzyme (α-Gal A) deficiency. Being a systemic disease, cardiac involvement in FD has a high mortality rate due to heart failure and arrhythmia. The coexistence of these two entities has not been reported previously. We describe the case of a female patient with limited SSc (lcSSc), a diagnosis based on the presence of sclerodactyly, Raynaud phenomenon, microvascular involvement, and positive anti-centromere antibodies. On follow-up, she developed chest pain, a second-degree A-V block, and restrictive cardiomyopathy (without cardiovascular risk factors). Although heart involvement is common in these two entities, the abnormal thickening of lateral and inferior wall, the infiltration pattern and the conduction system disorders presented herein are more characteristic in a heterozygous female with a cardiac variant of FD. The diagnosis of FD was confirmed with high globotriaosylsphingosine (Lyso-Gb3) levels and identification of GLA gene mutation. The patient was treated with enzymatic replacement (agalsidase alpha) following mild improvement in ventricular mass at 6th month, without clinical deterioration. The related literature on SSc associated with FD is also reviewed.

Introduction: Strokes in children are characterised by a high mortality rate while, at the same time, the low number of cases makes it difficult to gain practical experience. As heart disease is the most common risk factor, and as more and more cardiological interventions are being carried out, an increase in the incidence of paediatric stroke is expected. In some cases a transplant is required. While waiting for a donor, the use of ventricular assist devices may be necessary. These present with a high rate of neurological complications. We present two cases of children under 2 years of age awaiting heart transplantation supported by ventricular assist devices who had a stroke which was treated by endovascular techniques. Case 1: A 16-month-old boy with restrictive cardiomyopathy who was listed for a cardiac transplant. At 20 months he required an implantation of an external biventricular support device (Berlin Heart) and had a left hemisphere stroke at 23 months. An intra-arterial approach was used and produced good clinical results. One month later, a heart transplant was performed successfully. Case 2: An 18-month-old girl with non-compacted dilated cardiomyopathy included in the cardiac transplant programme and in need of a Levitronix Centrimag ventricular assist device presented with an acute left hemisphere stroke at 23 months. An intra-arterial procedure was carried out leading to positive clinical results except for residual right hypertonia. Seven months later she received her transplant., Conclusion: As a result of the difficulty in performing arterial puncture, the small vessel calibre and the limitation in the use of iodated contrast, there are certain limitations to endovascular treatment of strokes in children that can lead to complications. A multidisciplinary approach to managing such cases would be helpful.

Cardiomyopathies are a heterogeneous group of heart muscle diseases and an important cause of heart failure (HF). Current knowledge on incidence, pathophysiology and natural history of HF in cardiomyopathies is limited, and distinct features of their therapeutic responses have not been systematically addressed. Therefore, this position paper focuses on epidemiology, pathophysiology, natural history and latest developments in treatment of HF in patients with dilated (DCM), hypertrophic (HCM) and restrictive (RCM) cardiomyopathies. In DCM, HF with reduced ejection fraction (HFrEF) has high incidence and prevalence and represents the most frequent cause of death, despite improvements in treatment. In addition, advanced HF in DCM is one of the leading indications for heart transplantation. In HCM, HF with preserved ejection (HFpEF) affects most patients with obstructive, and ∼10% of patients with non-obstructive HCM. A timely treatment is important, since development of advanced HF, although rare in HCM, portends a poor prognosis. In RCM, HFpEF is common, while HFrEF occurs later and more frequently in amyloidosis or iron overload/haemochromatosis. Irrespective of RCM aetiology, HF is a harbinger of a poor outcome. Recent advances in our understanding of the mechanisms underlying the development of HF in cardiomyopathies have significant implications for therapeutic decision-making. In addition, new aetiology-specific treatment options (e.g. enzyme replacement therapy, transthyretin stabilizers, immunoadsorption, immunotherapy, etc.) have shown a potential to improve outcomes. Still, causative therapies of many cardiomyopathies are lacking, highlighting the need for the development of effective strategies to prevent and treat HF in cardiomyopathies., (© 2019 The Authors. European Journal of Heart Failure © 2019 European Society of Cardiology.)

Background: Pediatric restrictive cardiomyopathy (RCM) has high mortality in historical cohorts, and traditional management often involves early referral for heart transplantation (HTx). This study sought to determine outcomes of pediatric RCM at a center that has favored medical management over early listing for HTx., Methods: All patients (N = 43) with pure RCM phenotype (RCM, N = 26) and hypertrophic cardiomyopathy with restrictive physiology (RCM/HCM, N = 17) managed at our center over a 15-year period were investigated. Outcomes of those listed for HTx (N = 18) were compared to a benchmark of contemporaneous pediatric RCM patients in the UNOS database (N = 377). Proportional hazards models were used to determine predictors of adverse outcomes., Results: The mean age was 11 ± 9 years and 49% were male. 14 of 18 patients listed received HTx. Overall mortality (12%) was identical between the phenotypes; however, RCM patients were more likely to be listed (P = 0.001) and receive HTx (P = 0.02) compared to RCM/HCM. Prior to HTx, 60% had documented arrhythmia, 16% had cardiac arrest, and 7% required mechanical circulatory support. 4 of 17 patients with an ICD/PM received device therapies (four of five shocks appropriate for VT/VF, and two effective anti-tachycardia pacing interventions). Outcomes of those listed for HTx at our center were similar to the UNOS benchmark. In multivariate analysis, markers of congestive heart failure were associated with adverse outcomes., Conclusion: Heart failure and arrhythmia treatments can delay or possibly prevent the need for HTx in some cases of pediatric RCM. Survival post-HTx is not compromised using this approach.

Approximately 50% of patients with symptoms and signs of heart failure have a left ventricular ejection fraction (LVEF) ≥50% and are often simply referred to as 'heart failure with preserved EF', 'HFpEF'. Many of such patients have HF secondary to specific cardiac conditions (i.e., valvular or pericardial disease) in which the symptoms and signs occur despite the LVEF being preserved due to diastolic dysfunction secondary to the underlying disease (secondary HFpEF), differently from those HFpEF patients in which the impaired LV filling is due to a primary diastolic dysfunction (primary HFpEF). When primary HFpEF patients are properly diagnosed, they appear to have a milder form of HF with a lower cardiovascular mortality compared with HFrEF and secondary HFpEF population, but a risk of HF hospitalization that is significantly higher than patients with similar cardiovascular risk factors but without the diagnosis of HFpEF. We herein review the diagnostic approach to HFpEF and present a differential diagnosis of HFpEF in a primary and secondary form., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Purpose: Cerebral microbleeds (CMBs) are small rounded lesions representing cerebral hemosiderin deposits surrounded by macrophages that results from previous microhemorrhages. The aim of this study was to review the distribution of cerebral microbleeds in patients with end-stage organ failure and their association with specific end-stage organ failure risk factors., Materials and Methods: Between August 2015 and June 2017, we evaluated 15 patients, 9 males, and 6 females, (mean age 65.5 years). Patients population was subdivided into three groups according to the organ failure: (a) chronic kidney failure (n = 8), (b) restrictive cardiomyopathy undergoing heart transplantation (n = 1), and (c) end-stage liver failure undergoing liver transplantation (n = 6). The MR exams were performed on a 3T MR unit and the SWI sequence was used for the detection of CMBs. CMBs were subdivided in supratentorial lobar distributed, supratentorial non-lobar distributed, and infratentorial distributed., Results: A total of 91 microbleeds were observed in 15 patients. Fifty-nine CMBs lesions (64.8%) had supratentorial lobar distribution, 17 CMBs lesions (18.8%) had supratentorial non-lobar distribution and the remaining 15 CMBs lesions (16.4%) were infratentorial distributed. An overall predominance of supratentorial multiple lobar localizations was found in all types of end-stage organ failure. The presence of CMBs was significantly correlated with age, hypertension, and specific end-stage organ failure risk factors (p < 0.001)., Conclusions: CMBs are mostly founded in supratentorial lobar localization in end-stage organ failure. The improved detection of CMBs with SWI sequences may contribute to a more accurate identification of patients with cerebral risk factors to prevent complications during or after the organ transplantation.

Functional tricuspid regurgitation (TR) is frequently encountered. Current guidelines recommend the surgical correction of severe TR only at the time of left valve surgery despite emphasizing the enlarged tricuspid annulus (TA) dimension. We attempted to evaluate the relation between TA dimension and clinical outcomes of moderate or severe TR. A total of 213 patients (mean age 68 years, women 68%) with moderate or severe TR secondary to left-sided valve surgery, nonvalvular disease, or isolated primary TR were retrospectively identified and classified into tertiles of TA dimension. Cardiovascular (CV) outcomes were defined as a composite of hospitalization for worsening heart failure (HF), stroke, and CV death over a median follow-up of 3.4 years. Upper and lower tertiles of TA dimension had high frequencies of left-sided valve surgery and isolated primary TR, respectively. TA dimension was correlated with TR severity assigned as color Doppler grade and systolic tissue Doppler imaging of the tricuspid valve (TDI s'). During follow-up, there were 87 (41%) occurrences of primary outcomes: 65 HFs (31%), 13 CV deaths (6%), and 9 strokes (4%). There was a high frequency of adverse outcomes in the upper tertile. TA dimension and TDI s' were independently related to outcomes. An enlarged TA dimension was associated with outcomes irrespective of subgroups according to type or severity of TR and TDI s' (p = 0.21, p = 0.77, p = 0.15 for interaction). A cut-off value of 4.0 cm for TA dimension was best for CV event occurrence. When assessing clinical CV outcomes, TA dimension should be considered, even in moderate TR., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Background: In prior work involving older persons, the reported associations of spirometric impairments with cardiovascular outcomes may have been confounded by age-related changes in lung function. Hence, using more age-appropriate spirometric criteria from the Global Lung Function Initiative (GLI), we have evaluated the associations of spirometric impairments, specifically restrictive-pattern and airflow-obstruction, with cardiovascular death (CV-death) and hospitalization (CV-hospitalization). In these analyses, we also evaluated the competing outcome of noncardiovascular death (nonCV-death) and calculated measures of relative and absolute risk., Methods: Our study sample was drawn from the Cardiovascular Health Study (CHS), including 4232 community-dwelling white persons aged ≥65 years. Multivariable regression models included the following baseline predictors: GLI-defined restrictive-pattern and airflow-obstruction, age, male gender, obesity, waist circumference, current smoker status, ≥10 pack-years of smoking, hypertension, dyslipidemia, diabetes, and cardiovascular and cerebrovascular disease. Outcomes included adjudicated CV-death, CV-hospitalization, and nonCV-death, ascertained over 10 years of follow-up. Measures of association included hazard ratios (HRs), rate ratios (RRs), and average attributable fraction (AAF), each with 95% confidence intervals., Results: Restrictive-pattern and airflow-obstruction were associated with CV-death (adjusted HRs: 1.57 [1.18, 2.09] and 1.29 [1.04, 1.60]) and with nonCV-death (adjusted HRs: 2.10 [1.63, 2.69] and 1.79 [1.51, 2.12]), respectively. Airflow-obstruction, but not restrictive-pattern, was also associated with CV-hospitalization (adjusted RRs: 1.18 [1.02, 1.36] and 1.20 [0.96, 1.50], respectively). The adjusted AAFs of restrictive-pattern and airflow-obstruction were 1.68% (0.46, 3.06) and 2.35% (0.22, 4.72) for CV-death, and 3.44% (1.97, 5.08) and 7.77% (5.15, 10.60) for nonCV-death, respectively., Conclusion: Assessment of GLI-defined spirometric impairments contributes to broad geriatric risk stratifications for both cardiovascular and non-cardiovascular outcomes., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

The outcomes of pediatric ventricular assist device support in patients with diastolic heart failure have not been well described. This study reviews the North American experience with Berlin Heart EXCOR ® ventricular assist device implants in children with such physiology. The Berlin Heart clinical database was reviewed. Patients with primary diastolic dysfunction are included in this study. Twenty pediatric patients with restrictive cardiomyopathy (n = 13), hypertrophic cardiomyopathy (n = 3), or congenital heart disease with restrictive physiology (n = 4) who were supported with EXCOR ® were identified. Of these, nine (45%) were successfully bridged to transplant, one (5%) weaned from support, and 10 (50%) died after support was withdrawn. Of patients under age 3 years (n = 13), 38.5% survived, whereas those aged 3 or older (n = 7) had 71.4% survival (P = .35). Biventricular assist device (BiVAD) patients experienced a 27.3% survival, vs 77.8% for patients with left ventricular assist device only (P = .07). Primary causes of death included stroke, infection, acidosis, multisystem organ failure, and bleeding. Pediatric patients with diastolic heart failure comprise a high-risk population for mechanical circulatory support. However, half of patients with this physiology have been successfully supported to explant with EXCOR ® . The trends toward higher mortality for younger patients and those receiving BiVAD support warrant consideration., (© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Left atrial ball valve thrombus is an unusual condition, especially in patients with normal mitral valve. In the present case, we describe a 61-year-old female with restrictive cardiomyopathy who presented with a large left atrial ball valve thrombus, which subsequently embolized to right carotid artery and was treated with intravenous thrombolysis. This case provides useful insight into the genesis of such thrombi and highlights management dilemmas of a rare clinical problem., (Copyright © 2015 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.)

Background: Restrictive cardiomyopathy (RCM) patients have poor prognosis due to progressive heart failure characterized by impaired ventricular filling of either or both ventricles. The goal of this study was to evaluate the outcome of end-stage RCM patients after left ventricular assist device (LVAD) implantation and to determine factors that may be associated with improved survival., Methods: This investigation is a retrospective study of prospectively collected data that include 28 consecutive patients with end-stage RCM who received continuous-flow LVADs at the Mayo Clinic, Rochester, Minnesota. Outcome was assessed by survival with LVAD support until heart transplantation or all-cause mortality., Results: The mean follow-up time post-LVAD implantation was 448 ± 425 days. The mean hospitalization time was 29 ± 19 days and was complicated mainly by post-operative right ventricular (RV) failure requiring short-term medical support. The short-term in-hospital mortality was 14%. Ten patients underwent heart transplantation with 100% survival post-transplant during the follow-up period. One-year survival for patients with LVADs without transplantation was 64%, and was not significantly different between amyloidosis and non-amyloidosis patients. Larger left ventricle (LV) end-diastolic and end-systolic dimensions were significantly associated with improved survival rates (RR = 0.94 and 0.95, p < 0.05, respectively), and left ventricular end-diastolic diameter (LVEDD) ≤46 mm was associated with increased mortality post-LVAD implantation., Conclusions: LVAD is a feasible, life-saving therapy for end-stage heart failure related to RCM, especially as a bridge to transplant and in patients with larger LV dimensions., (Copyright © 2015 International Society for Heart and Lung Transplantation. Published by Elsevier Inc. All rights reserved.)

We present the unique case of a pediatric patient who received chemotherapy for a diagnosis of CD, while mechanically supported with a Berlin EXCOR LVAD secondary to restrictive cardiomyopathy. A four-yr-old previously healthy male with restrictive cardiomyopathy required MCS after cardiac arrest but was diagnosed with multicentric CD, a non-malignant lymphoproliferative disorder fueled by excessive IL-6 production. Treatment with IL-6 blockade (tocilizumab) every two wk and methylprednisolone had no effect on his lymph nodes or cardiac function while on temporary RotaFlow. A Berlin LVAD was placed for treatment with rituximab, COP, vincristine, and methylprednisolone. After three courses of chemotherapy, his inflammatory markers normalized and his lymphadenopathy decreased but cardiac function remained severely depressed. He tolerated chemotherapy on the Berlin but required frequent titrations of his anti-coagulation regimen and he did suffer a hemorrhagic stroke. His clinical status improved significantly with rehabilitation, and he tolerated heart transplantation without further complications. MCS is a feasible option as a bridge to recovery or heart transplant eligibility for patients with hemodynamic collapse requiring chemotherapy but it does necessitate close titration of the anti-coagulation regimen to coincide with changes in the inflammatory state., (© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

A 7-year-old male patient who had abdominal swelling and eyelid oedema was diagnosed with restrictive cardiomyopathy. His serum albumin level was 2.3 g/dl. Protein-losing enteropathy due to restrictive cardiomyopathy was diagnosed and oral budesonide was started. His serum albumin level began to rise and ascites and peripheric oedema disappeared. The patient underwent a successful cardiac transplantation and budesonide was stopped. After the heart transplantation, the albumin level decreased to 2.3 g/dl, and therefore it was restarted. When the serum albumin level increased, the budesonide dose was tapered and stopped in 1 month. Budesonide may be an effective drug in patients with protein-losing enteropathy due to heart failure.

Restrictive cardiomyopathy (RCM) is an uncommon form of myocardial disorder characterized by diastolic dysfunction and increased myocardial stiffness. Endomyocardial fibrosis is one type of RCM hallmarked by formation of fibrous tissue on the endocardium. This report describes a case of RCM confirmed by autopsy in a young man who presented atypically with fever, vomiting, and delirium.

Tolvaptan, an oral vasopressin receptor antagonist, was administered to a 6-year-old boy with advanced congestive cardiac failure due to restrictive cardiomyopathy. Slow up-titration of the tolvaptan improved the loop diuretic-resistant congestive cardiac failure without hypernatraemia, deterioration of vital signs, and significant complications. Tolvaptan could be useful and safe for children with severe congestive cardiac failure. It is necessary to accumulate clinical data on tolvaptan administration in children in order to determine the optimal method of administration.

Objectives: Restrictive cardiomyopathy due to AL amyloidosis has not been reported as the cause of sudden death. The risk of sudden death in AL amyloidosis may be further increased by potentially cardiotoxic medication, as in the following case., Case Report: In a 69-year-old female, AL amyloidosis from light-chain deposition disease manifested as gastrointestinal pseudo-obstruction, restrictive cardiomyopathy, and secondary myopathy. AL amyloidosis was histologically confirmed by endomyocardial biopsy and muscle biopsy. One month after initiation of steroids and lenalidomide the patient suddenly died during sleep. It is speculated that sudden death was due to restrictive cardiomyopathy, cardiotoxicity of lenalidomide, pulmonary embolism, sudden unexplained death in epilepsy syndrome or stroke. The possible causes of sudden death are discussed., Conclusions: This case shows that AL amyloidosis from light-chain deposition disease may predominantly affect the intestines, myocardium and the skeletal muscle and that lenalidomide may have a beneficial effect on the amyloidosis but should be given with caution for its potential arrhythmogenic and thrombogenic side-effects.

The management of cardiomyopathy in pediatric patients is complicated by the risk of cardiac-associated embolism. This review examines the incidence, risk factors, and treatment of embolism in dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM), and noncompaction of the left ventricular myocardium (NLVM) in children. The reported incidence of embolism for DCM ranges from 1 to 16%. Left ventricular ejection fraction below 25% or fractional shortening below 15% are major risk factors for intracardiac thrombus formation in this group. The risk of embolism for RCM ranges from 12 to 33%. Atrial dilation is considered the major risk factor. The reported incidence of embolism for NLVM ranges from 0 to 38%, with most studies indicating an absence of detectable thrombus or embolus. Severe systolic dysfunction exacerbates the risk of embolism in this group. On the basis of these risk factors, we propose an algorithm for the management of embolism in these groups of patients.

A previously healthy woman in her forties with a six-month history of persistent coughing, breathlessness and fatigue was referred to our hospital for further evaluation. She was initially treated with antibiotics for a possible respiratory tract infection but with only minor effect. A chest x-ray and computer tomography (CT) of the thorax demonstrated a solid tumour in the right lung hilus. Bronchoscopy revealed slight oedema of the bronchial mucous membrane in the area in question. Cytological examination of bronchoalveolar lavage fluid (BAL) showed normal respiratory epithelial cells. Histological examination of a needle biopsy from the tumour showed lymphoproliferative changes of uncertain cause. Magnetic resonance imaging (MRI) of the thorax provided no further information. An electrocardiogram (ECG) revealed signs of left ventricular hypertrophy and sinus bradycardia. Her complaints were palpitations, mild exertional dyspnoea and attenuated heart rate response to exercise. Echocardiography showed increased wall thickness with heterogeneous echogenicity in both ventricles, a slightly enlarged left atrium and mild mitral regurgitation. Tissue Doppler measurements showed impaired relaxation. These findings were suggestive of restrictive cardiomyopathy with diastolic dysfunction. Cardiac MRI confirmed the echocardiographic findings. The tumour was removed by thoracotomy and was shown to be made up of lymphatic tissue with granulomas, consistent with sarcoidosis. The restrictive cardiomyopathy was regarded as a cardiac manifestation of sarcoidosis. The patient was treated with corticosteroids. Clinical follow up with cardiac MRI and echocardiography did not reveal any progression of the cardiac involvement. Cardiac sarcoidosis must be considered in all sarcoid patients because of its significance for prognosis and treatment.

Mixed lesion of Restrictive Cardiomyopathy and Constrictive Pericarditis is a rarely reported clinical entity which poses a diagnostic and therapeutic enigma to physicians. The management of both conditions differs markedly. Restrictive Cardiomyopathy is managed either conservatively or cardiac transplant may be offered. On the other hand, Constrictive Pericarditis can be surgically treated by pericardiectomy. We report a rare case of decompensated heart failure presenting with mixed features of both constrictive and restrictive cardiomyopathy.

Background: Pediatric restrictive cardiomyopathy carries a poor prognosis secondary to a high risk of sudden death previously attributed to ventricular tachyarrhythmias. The extent of conduction abnormalities in this population and their relationship to life-threatening events has not been previously reported., Methods and Results: A retrospective study of pediatric patients with restrictive cardiomyopathy diagnosed between April 1994 and May 2011 was performed. Demographic, cardiac, and ECG characteristics and the mechanisms of serious arrhythmic events (death or episode of acute hemodynamic compromise thought to be secondary to arrhythmia) were evaluated. Sixteen patients (1-17 years of age) were reviewed, with 5 sudden cardiac events noted, including 4 deaths. Two deaths were caused by development of acute heart block; another patient with syncope had intermittent heart block and survived as the result of pacing features of an implanted defibrillator system. The median PR interval (222 versus 144 ms; P<0.01) and the QRS duration (111 versus 74; P=0.01) were significantly longer in those who had an acute cardiac event. Older age at presentation was associated with sudden cardiac events (P<0.01). No other functional or echocardiographic variables were associated with a sudden cardiac event., Conclusions: Pediatric patients with restrictive cardiomyopathy are at risk for acute high-grade heart block, and, in this cohort, bradycardic events represented a significant portion of all arrhythmic events. Aggressive ECG monitoring strategies looking for conduction system disease should be ongoing in all patients with restrictive cardiomyopathy. Implantation of a defibrillator/pacemaker should be considered as prophylactic management.

Generally, restrictive cardiomyopathy due to desmin deposition is characterized by restriction to ventricular diastolic filling and different degrees of atrioventricular block (AVB). In this report, we describe the pathological changes of the cardiac conduction system related to AVB. The sinus node, the compact node, and the penetrating bundle (bundle of His) had no abnormalities, however, there was extensive fibrosis of the terminal portions of the branching bundle and the beginning of the left and right bundles at the top of the ventricular septum. The pathogenesis of this fibrous replacement is probably the same that leads to extensive fibrosis of the working ventricular myocardium, and remains to be elucidated.

'Cardiomyopathy' (CM) is defined by the World Health Organization as 'a disease of the myocardium associated with cardiac dysfunction'. In a child, it is associated with a significant risk for anaesthesia. In addition, cardiac arrest under anaesthesia has been attributed to an undiagnosed CM. Care of these patients is complicated by the fact that there are several different forms of CM that have differing anaesthesia management goals, aimed at maintaining the patient's baseline haemodynamic variables of preload, heart rate, contractility, and afterload. With the emergence of new diagnostic tools, together with advances in cardiac imaging and improved treatment modalities (such as ventricular assist devices), the anaesthetic management of a child with a CM is evolving. This review describes the different forms of the disease in terms of pathology, aetiology, and clinical presentation. Dilated, hypertrophic, and restrictive CM are the most common forms. We examine recent advances in therapy, including the management of severe end-stage disease, while highlighting the specific anaesthetic considerations for children with each type of CM.