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Restrictive cardiomyopathy (RCM), a potentially devastating heart muscle disorder, is characterized by diastolic dysfunction due to abnormal muscle relaxation and myocardial stiffness resulting in restrictive filling of the ventricles. Diastolic dysfunction is often accompanied by left atrial or bi-atrial enlargement and normal ventricular size and systolic function. RCM is the rarest form of cardiomyopathy, accounting for 2–5% of pediatric cardiomyopathy cases, however, survival rates have been reported to be 82%, 80%, and 68% at 1-, 2-, and 5-years after diagnosis, respectively. RCM can be idiopathic, familial, or secondary to a systemic disorder, such as amyloidosis, sarcoidosis, and hereditary hemochromatosis. Approximately 30% of cases are familial RCM, and the genes that have been linked to RCM are cTnT, cTnI, MyBP-C, MYH7, MYL2, MYL3, DES, MYPN, TTN, BAG3, DCBLD2, LNMA, and FLNC. Increased Ca2+ sensitivity, sarcomere disruption, and protein aggregates are some of the few mechanisms of pathogenesis that have been revealed by studies utilizing cell lines and animal models. Additional exploration into the pathogenesis of RCM is necessary to create novel therapeutic strategies to reverse restrictive cardiomyopathic phenotypes.

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.

Celiac disease (CeD) is an autoimmune disorder where adherence to a lifelong gluten-free diet (GFD) is the only available treatment. While this approach is rather effective, some patients experience ongoing symptoms, and this factor, along with the rigidity of the GFD, may predispose some to disordered eating behaviors, including Avoidant/Restrictive Food Intake Disorder (ARFID). ARFID is characterized by persistent food avoidance that is not driven by body image concerns, resulting in nutritional, psychological, and social impairment. This scoping literature review explores the emerging intersection between ARFID and CeD, examining prevalence, pathophysiology, clinical features, complications, and management strategies. Recent studies report that 14–57% of individuals with CeD may meet the criteria for ARFID, depending on the population and screening tools used. Factors contributing to ARFID in CeD may include ongoing gastrointestinal symptoms, anxiety over gluten exposure, negative conditioned responses to food, social challenges related to GFD adherence, and psychiatric co-morbidities. ARFID in CeD is associated with worsened nutritional deficiencies, anxiety, depression, and impaired social functioning, making the diagnosis of ARFID challenging due to symptom overlap with CeD and other psychiatric conditions. Management requires a multidisciplinary approach, including medical, nutritional, and psychological interventions. Routine screening, early intervention, and integrated care models may improve outcomes and quality of life.

differentiates avoidant/restrictive food intake disorder (ARFID) from other eating disorders (EDs) by a lack of overvaluation of body weight/shape driving restrictive eating. However, clinical observations and research demonstrate ARFID and shape/weight motivations sometimes co-occur. To inform classification, we: (1) derived profiles underlying restriction motivation and examined their validity and (2) described diagnostic characterizations of individuals in each profile to explore whether findings support current diagnostic schemes. We expected, consistent with , that profiles would comprise individuals endorsing solely ARFID or restraint (i.e. trying to eat less to control shape/weight) motivations. We applied latent profile analysis to 202 treatment-seeking individuals (ages 10-79 years [ = 26, s.d. = 14], 76% female) with ARFID or a non-ARFID ED, using the Nine-Item ARFID Screen (Picky, Appetite, and Fear subscales) and the Eating Disorder Examination-Questionnaire Restraint subscale as indicators. A 5-profile solution emerged: Restraint/ARFID-Mixed ( = 24; 8% [ = 2] with ARFID diagnosis); ARFID-2 (with Picky/Appetite; = 56; 82% ARFID); ARFID-3 (with Picky/Appetite/Fear; = 40; 68% ARFID); Restraint ( = 45; 11% ARFID); and Non-Endorsers ( = 37; 2% ARFID). Two profiles comprised individuals endorsing solely ARFID motivations (ARFID-2, ARFID-3) and one comprising solely restraint motivations (Restraint), consistent with . However, Restraint/ARFID-Mixed (92% non-ARFID ED diagnoses, comprising 18% of those with non-ARFID ED diagnoses in the full sample) endorsed ARFID restraint motivations. The heterogeneous profiles identified suggest ARFID and restraint motivations for dietary restriction may overlap somewhat and that individuals with non-ARFID EDs can also endorse high ARFID symptoms. Future research should clarify diagnostic boundaries between ARFID and non-ARFID EDs.

Restrictive cardiomyopathy (RCM) is a rare cardiac disease characterized by the predominance of severe diastolic dysfunction, normal or mildly increased ventricular wall thickness, and either normal or mildly reduced ejection fraction. All known RCM genes are localized on autosomes. In most cases, the mutations are inherited in an autosomal dominant mode or appear as de novo mutations. The present report describes a case with early-onset RCM and life-threatening arrhythmia, which was inherited in an autosomal recessive manner. The child developed ventricular arrhythmia at one month of age, and a mixed phenotype dominated by restrictive cardiomyopathy with coexistent hypertrophic cardiomyopathy (RCM - HCM) at one year of age. and required hospitalization for anti - heart failure treatment due to heart failure at three years of age. The patient suffered from ventricular fibrillation and cardiac arrest at four years of age, which was rescued by extracorporeal membrane oxygenation and subsequent heart transplantation. Whole genome sequencing of the proband revealed a novel homozygous missense variant (NM_001927.3: c.1243 C > T [p.R415W]) in the Desmin (DES) gene, which was inherited from heterozygous unaffected parents. This case further expands our knowledge of desmin-related cardiomyopathy in children.

Abstract Background and Aims Disordered eating is frequently reported in patients with inflammatory bowel disease (IBD). We aimed to describe the prevalence of avoidant restrictive food intake disorder (ARFID) in patients with IBD and to identify predictors of ARFID. Methods Patients with IBD at 2 academic medical centers completed questionnaires including the ARFID subscale of the Pica, ARFID, and Rumination Disorder Questionnaire (PARDI-AR-Q), disease characteristics, and psychosocial variables. IBD disease activity was determined by a review of objective data within 90 days of survey completion. Results Three hundred and twenty-five participants completed the questionnaires (56% female, average age 47.60 years, 49.5% Crohn’s disease (CD), 45.5% ulcerative colitis (UC)). Using the PARDI-AR-Q, 17.8% of the total sample screened positive for ARFID. ARFID+ respondents were younger, had shorter disease duration, and worse psychosocial functioning compared to ARFID-. A higher percentage of ARFID+ patients had objective disease activity compared to ARFID- (51% vs. 40%), but this was not statistically significant. There was no statistical difference in ARFID rates between patients with CD compared to UC. In patients with inactive disease only, 16.3% screened positive for ARFID. In hierarchical logistic regression, the only significant predictor of ARFID among patients with inactive IBD was GI-specific anxiety. Conclusions In this multi-center study, 16.3% of patients with inactive IBD met the criteria for ARFID, and 17.8% of all patients met the criteria regardless of objective disease activity. GI-specific anxiety was the only predictor of ARFID among patients with inactive IBD, highlighting the need for multidisciplinary care in IBD. Lay Summary Higher rates of ARFID are reported in IBD, but prior studies have not utilized DSM-5 criteria. In a multi-site study, 17.8% of all patients with IBD (n = 325) and 16.3% of patients with no objective disease activity met ARFID criteria using DSM-5 criteria.

The prognosis for restrictive cardiomyopathy (RCM) is typically poor, which primarily influenced by the restrictive physiology. This study aimed to evaluate the prognostic significance of longitudinal strains and myocardial work (MW) indices in RCM patients and to create and validate a multivariable model for predicting major adverse cardiac events (MACEs). We enrolled 191 patients with RCM, divided into a training cohort of 128 and a validation cohort of 63, along with 132 healthy controls. Echocardiography was used to assess right ventricular free wall strain (RV-FWS), left ventricular global longitudinal strain (LV-GLS), left atrial peak strain (LAPS), right atrial peak strain (RAPS), and MW indices. Univariate and multivariate stepwise Cox regressions were applied to identify independent prognostic factors and develop a nomogram. With a median follow-up of 977 days, 111 patients experienced MACEs and 76 died. In patients with preserved left ventricular ejection fraction (LVEF), LV-GLS and MW indices were impaired. Longitudinal strains and MW indices were significantly associated with prognosis. We constructed a predictive nomogram including LAPS, RV-FWS, global myocardial work efficiency (GWE), and established clinical predictors, which demonstrated excellent discriminative and calibration properties. Thorough evaluation of longitudinal strains and MW indices is essential, particularly focusing on LAPS, RV-FWS, and GWE.

ObjectiveTo compare the clinical presentations, management and outcomes of avoidant/restrictive food intake disorder (ARFID) across paediatric and child and adolescent (C&A) psychiatric settings.Study designProspective surveillance study.MethodsData were collected during a 13-month prospective surveillance study of children and adolescents with ARFID in the UK and Republic of Ireland. Paediatricians reported cases via the British Paediatric Surveillance Unit and psychiatrists through the Child and Adolescent Psychiatry Surveillance System. A follow-up questionnaire was sent at 12 months after a case of ARFID was reported.Results319 cases were included, 189 from paediatricians and 130 from C&A psychiatrists. Patients presenting to paediatricians were younger (9.8 years vs 13.7 years), more often male (62.4% vs 43.1%), and had more chronic symptoms (80.4% vs 67.0%), selective eating (63.7% vs 46.6%) and comorbid autism (67.6% vs 50.0%) than to psychiatrists. Psychiatrists saw patients with more fear of aversive consequences from eating (13.1% vs 3.2%), weight loss (76.7% vs 65.0%) and comorbid anxiety (78.2% vs 47.4%). Patients presenting to paediatricians more often received medical monitoring (74.6% vs 53.1%), dietetic advice (83.1% vs 70.0%) and nutritional supplements (49.2% vs 30.0%). At follow-up, both cohorts improved in nutritional status. However, the psychiatric cohort improved more regarding disordered eating behaviours.ConclusionsThe presentation and management of ARFID differs across clinical settings. Findings suggest the need to develop clinical pathways for ARFID assessment and management across paediatrics and mental health. Our findings highlight the potential benefits of psychiatric input for some patients with ARFID.

Background Understanding restrictive cardiomyopathy (RCM) in children is limited, and currently, no prognostic model is available for assessing risk stratification in pediatric RCM. The authors elaborated on the clinical and genetic characteristics of pediatric RCM and developed a prediction model to assess the 1-year risk of major adverse cardiovascular events (MACE), aiding in determining the optimal timing for heart transplantation (HTx). Methods This multicenter retrospective cohort study collected data on children with RCM from 14 centers in China, with patient enrollment from January 1, 2013, to December 31, 2022, and follow-up concluding on August 1, 2023. It analyzed clinical and genetic characteristics and followed patients longitudinally for the development of MACE (including cardiac death, HTx, or equivalent events). A logistic regression model was developed to predict MACE one year post-diagnosis, with internal validation using bootstrapping. The model’s performance was evaluated in terms of its discrimination, calibration, and clinical utility. Results The study included 185 children with a median diagnosis age of 5.4 years (IQR, 3.1–9.4), and 110 (59%) were male. Significant heart failure was the primary clinical feature. TNNI3 mutations were present in 61% of cases, the most common in pediatric RCM. During the follow-up period, 114 patients (62%) experienced MACE, with the median MACE-free survival time for the entire cohort being 2.1 years post-diagnosis (IQR, 0.6–5.4). A prediction model was developed to estimate the one-year risk of MACE using four easily accessible clinical parameters: heart failure classification, brain natriuretic peptide levels, cardiac troponin levels, and a modified score for ST-segment deviation. Internal validation with bootstrapping confirmed accuracy, showing an optimism-adjusted C statistic of 0.78 (95% CI, 0.72–0.85) and a Brier score of 0.17 (95% CI, 0.14–0.21), with a calibration slope of 0.90 (95% CI, 0.63–1.27). Decision curve analysis indicated high net benefit across HTx treatment thresholds from 8.5% to 78.3%. Conclusions This model utilizes accessible clinical parameters to assess individual risk for MACE in pediatric RCM, potentially improving precision in healthcare strategies and supporting more informed clinical decision-making.

Avoidant restrictive food intake disorder (ARFID) is an eating disorder characterized by persistent insufficient nutritional and/or energy intake. ARFID, before referred to as “selective eating disorder”, was introduced recently in the DSM-5 as a replacement for and expansion of the previous diagnosis. Individuals with ARFID may limit food variety and intake due to avoidance based on the sensory characteristics of the food or related to any adverse consequences of eating without the intention of losing weight and concerns of body image. The limited understanding of avoidant and restrictive eating poses challenges to effective treatment and management, impacting directly on the growth and development of children and adolescents. The ARFID neurobiological concept has not yet been clearly defined to clinical practice for nutritionists, thereby hindering screening and impeding the development of treatment recommendations. This narrative review provide useful practical information to consult the pathophysiology, the neurobiology, the clinical features, the assessment and the treatment for healthcare professionals seeking to enhance their clinical knowledge and management of this disorder. Plain English summary Avoidant restrictive food intake disorder (ARFID) is an eating disorder characterized by persistent insufficient nutritional and/or energy intake. Individuals with ARFID exhibit limited food intake and variety, often due to a lack in eating, without the primary goal of weight loss. The limited understanding of avoidant and restrictive eating poses challenges in terms of effective treatment and management, which directly impacts the growth and development of children and adolescents, as well as their nutrition and psychosocial well-being. ARFID is a relatively recent diagnostic classification, representing a burgeoning field of study. The identification of diagnostic criteria and the pursuit of new knowledge in this area have only recently begun. Consequently, assessment tools and treatment strategies are still in the process of development and validation. This narrative review explored the neurobiological perspective of ARFID using the three-dimensional model, examined its etiology and risk factors, evaluated clinical screening and evaluation tools, discussed common clinical complications, and presented different types of nutritional, behavioural, and pharmacological interventions used in ARFID treatment.