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Restrictive cardiomyopathy (RCM) is an uncommon cardiac muscle disease characterized by impaired ventricular filling and severe diastolic dysfunction with or without systolic dysfunction. The patients with RCM present poor prognosis and high prevalence of sudden cardiac death, especially in the young. The etiology of RCM may be idiopathic, familial or acquired predispositions from various systemic diseases. The genetic background of familial RCM is often caused by mutations in genes encoding proteins of sarcomeres and a significant minority by mutations in non-sarcomeric proteins and transthyretin proteins. It is important to identify the associations between genotype and phenotype to guide clinical diagnosis and treatment. Here, we have summarized the reported index cases with RCM involving genetic etiology to date and highlighted the most significant phenotype results.

Cardiomyopathies are a challenging pathology and echocardiography is essential for diagnosis and prognosis. The most frequent cardiomyopathies are the dilated cardiomyopathy (DCM) and the hypertrophic cardiomyopathy (HCM), followed by the less frequent restrictive (RCM) and arrhythmogenic right ventricle cardiomyopathies (ARVC). Echocardiography can identify diagnostic features, and guide further testing for a definitive diagnosis. Echographic parameters are involved in risk score computing and prognosis assessment. While the most prevalent hallmark of HCM is the asymmetric left ventricular hypertrophy and systolic anterior motion of the mitral valve with the obstructive phenotype, DCM shows dilated left ventricle with different degrees of systolic dysfunction, and RCM is usually characterized by undilated ventricles associated with atrial enlargement. The aim of this review is to display and compare the most frequent cardiomyopathies encountered in clinical practice and highlight their most characteristic features in a useful way for the practicing clinician.

UNASSIGNED: The study aimed to know the clinical, demographic, diagnostic, and treatments characteristics in patients with cardiomyopathies in Mexico.
UNASSIGNED: The Mexican Registry of Cardiomyopathies (REMEMI) is an observational, prospective and national study of patients with cardiomyopathies, which includes: Dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM) and arrhythmogenic cardiomyopathy of the right ventricle (ARVC).
UNASSIGNED: A total of 1026 patients from most states of the Mexican Republic (19) were included, with 494 corresponding to DCM, 490 to HCM, 35 to RCM, and seven to ARVC. We found significant differences between the various cardiomyopathy phenotypes (p < 0.05) in the coexistence with diabetes, use of implantable defibrillator, presence of ventricular tachycardia, and NYHA functional class ≥ 1. There were no significant differences in age and predominant gender between each one. When analyzing by phenotype, we found that patients with HCM have limited use of diagnostic methods considered indispensable, such as cardiac magnetic resonance, Holter monitoring, and genetic testing in patients and their relatives.
UNASSIGNED: Seeking contemporary information through observational registries in Mexico is a valuable opportunity to understand the characteristics of the methods used in the study and treatment of diseases such as cardiomyopathies by Mexican physicians. It can provide information for the implementation of management guidelines and strategies to disseminate findings to improve healthcare in our country.
UNASSIGNED: Conocer las características clínicas y demográficas, así como las herramientas diagnósticas y tratamientos utilizados en pacientes con miocardiopatías en México.
UNASSIGNED: El Registro Mexicano de Miocardiopatías (REMEMI) es un estudio observacional, prospectivo y nacional de pacientes con diagnóstico de miocardiopatía, que incluye: miocardiopatía dilatada (MCD), miocardiopatía hipertrófica (MCH), miocardiopatía restrictiva (MCR) y miocardiopatía arritmogénica del ventrículo derecho (MAVD).
UNASSIGNED: Se incluyó un total de 1026 pacientes provenientes de la mayoría de los estados de la República Mexicana (19), de los cuales 494 corresponden a MCD, 490 a MCH, 35 a MCR y 7 a MAVD. Encontramos diferencias significativas entre los diversos fenotipos de miocardiopatías (p < 0.05) en la coexistencia con diabetes, empleo de desfibrilador implantable, presencia de taquicardia ventricular y la clase funcional de la NYHA ≥ 1. No hubo diferencias significativas en la edad y sexo predominante entre cada uno. Al analizar por fenotipo encontramos que la MCH tienen poco empleo de métodos diagnósticos considerados como indispensables como la resonancia magnética cardiaca, el monitoreo Holter y el estudio genético en los pacientes y sus familiares.
UNASSIGNED: La búsqueda de información contemporánea a través de registros observacionales en México es una buena oportunidad para conocer las características de los métodos empleados en el estudio y tratamiento de enfermedades como las miocardiopatías por médicos mexicanos, y puede ofrecernos información para la implementación de guías de manejo y estrategias de difusión de los hallazgos para así mejorar el cuidado de la salud en nuestro país.

OBJECTIVE: Restrictive cardiomyopathy is rare and is generally associated with worse clinical outcomes compared to other cardiomyopathies. Ventricular assist device (VAD) support for these children is seldom applied and often hampered by the surgical difficulties.
METHODS: All paediatric (<19 years) patients with a restricted cardiomyopathy supported by a VAD from the EUROMACS database were included and compared to patients with a dilated cardiomyopathy (retrospective database analyses). Participating centres were retrospectively contacted to provide additional detailed echo and Swan Ganz measurements to analyse the effect of VAD support on pulmonary artery pressure and right ventricular function.
RESULTS: Forty-four paediatric VAD-supported patients diagnosed with restricted cardiomyopathy were included, with a median age at implantation of 5.0 years. Twenty-six of the 44 patient with a restricted cardiomyopathy survived to transplantation (59.1%), 16 died (36.4%) and 2 are still on ongoing VAD support (4.5%) after a median duration of support of 95.5 days (interquartile range 33.3-217.8). Transplantation probability after 1 and 2 years of VAD support in patients with a restricted cardiomyopathy were comparable to patients with a dilated cardiomyopathy (52.3% vs 51.4% and 59.5% vs 60.1%, P = 0.868). However, mortality probability was higher in the restricted cardiomyopathy cohort (35.8% vs 17.0% and 35.8% vs 19.0%, P = 0.005). Adverse event rates were high (cerebrovascular accident in 31.8%, pump thrombosis in 29.5%, major bleeding 25.0%, eventual biventricular support in 59.1%). In the atrially cannulated group, cerebrovascular accident and pump thrombosis occurred in twice as much patients (21.1% vs 40.0%, P = 0.595 and 15.8% vs 40.0%, P = 0.464; probably non-significant due to the small numbers). Pulmonary arterial pressures improved after implantation of a VAD, and 6 patients who were initially labelled as ineligible due to pulmonary hypertension could eventually be transplanted.
CONCLUSIONS: VAD support in children with a restricted cardiomyopathy is rarely performed. Mortality and adverse event rates are high. On the other hand, survival to cardiac transplantation was 59.1% with all patients surviving the 1st 30 days after cardiac transplantation. Pulmonary arterial pressures improved while on support, potentially making cardiac transplantation a viable option for previously ineligible children.

Left ventricular thrombus (LVT) has historically been reported as a complication of acute left ventricular (LV) myocardial infarction. It is most commonly observed in cases of LV systolic dysfunction attributed to ischemic or nonischemic etiologies. Conversely, the occurrence of LVT in normal LV systolic function is an exceptionally rare presentation and is predominantly associated with conditions such as hypereosinophilic syndrome (HES), cardiac amyloidosis, left ventricular noncompaction, hypertrophic cardiomyopathy (HCM), hypercoagulability states, immune-mediated disorders, and malignancies. Notably, hypereosinophilia (HE) has been linked with thrombotic events. Intracardiac thrombus is a well-known complication of eosinophilic myocarditis (EM) or Loeffler endomyocarditis, both of which are considered clinical manifestations of HES. We present a case of a 63-year-old male with normal LV systolic function, HE, and noncontributory hypercoagulability workup, who presented with thromboembolic complications arising from LVT. Interestingly, the diagnostic evaluation for EM and Loeffler endocarditis was nonconfirmatory. Additionally, we performed a literature review to delineate all similar cases. This article also outlines the pathophysiology, diagnosis, and treatment approaches for hypereosinophilic cardiac involvement with a specific focus on LVT.

Cardiomyopathies (CMs), one of the main causes of sudden death among the young population, are a heterogeneous group of myocardial diseases, usually with a genetic cause. Next-Generation Sequencing (NGS) has expanded the genes studied for CMs; however, the yield is still around 50%. The systematic study of Copy Number Variants (CNVs) could contribute to improving our diagnostic capacity. These alterations have already been described as responsible for cardiomyopathies in some cases; however, their impact has been rarely assessed. We analyzed the clinical significance of CNVs in cardiomyopathies by studying 11,647 affected patients, many more than those considered in previously published studies. We evaluated the yield of the systematic study of CNVs in a production context using NGS and a novel CNV detection software tool v2.0 that has demonstrated great efficacy, maximizing sensitivity and avoiding false positives. We obtained a CNV analysis yield of 0.8% that fluctuated depending on the type of cardiomyopathy studied (0.29% HCM, 1.41% DCM, 1.88% ARVC, 1.8% LVNC, 1.45% RCM), and we present the frequency of occurrence for 18 genes that agglutinate the 95 pathogenic/likely pathogenic CNVs detected. We conclude the importance of including in diagnostic tests a systematic study of these genetic alterations for the different cardiomyopathies.

UNASSIGNED: Hypereosinophilic Syndrome (HES) is a rare disorder characterized by persistent elevation of eosinophils, leading to multi-organ infiltration and damage. Eosinophilic Myocarditis (EM) is one of its severe complications contributing significantly to morbidity and mortality. Herein, we describe the diagnostic and therapeutic challenges of EM, emphasizing the significance of early recognition and multidisciplinary management.
UNASSIGNED: A 51-year-old female with a history of EM, heart failure, and peripheral eosinophilia presented with NYHA class 3b symptoms. Laboratory findings revealed elevated peripheral eosinophil count, NT-Pro BNP, and characteristic electrocardiogram abnormalities. Imaging studies confirmed biventricular thrombi and myocardial abnormalities consistent with EM. Treatment involved Solu-Medrol for HES and heparin for ventricular thrombi, leading to initial clinical improvement. However, refractory heart failure necessitated urgent heart transplantation.
UNASSIGNED: EM, an under-recognized complication of HES, poses diagnostic and management challenges. Management includes standard heart failure treatments, steroids, and emerging therapies like Mepolizumab. Early diagnosis and aggressive management are pivotal for improving outcomes in this rare and potentially fatal condition.
UNASSIGNED: Advancements in the detection of complications, surgical management, and therapeutic options have improved outcomes in HES. Ongoing research is essential to further understand and address the diagnostic and therapeutic challenges of HES and EM.

UNASSIGNED: Restrictive cardiomyopathy (RCM) represents a rare cardiovascular disorder stemming from filament-associated genes. Nonetheless, treating RCM presents considerable challenges, particularly concerning device implantation and mechanical support. Furthermore, elucidating the molecular function of specific variants holds promise in benefiting patients and enhancing prognosis, given the significant heterogeneity among RCM variants.
UNASSIGNED: The proband, an eight-year-old female, was admitted to our hospital post cardiopulmonary resuscitation due to sudden cardiac arrest. Echocardiography revealed bilateral atrial enlargement. Whole-exome sequencing uncovered a novel heterozygous mutation (c.509G>A, p.R170Q) in TNNI3. Evaluation using the MutationTaster application deemed c.509G>A pathogenic (probability = 0.99). Following clinical manifestations, imaging assessments, and genetic screening, the proband received an RCM diagnosis. ECMO was recommended along with continuous renal replacement therapy. However, persistent atrial flutter ensued post-ECMO withdrawal. Attempts to restore cardiac rhythm with cardioversion, metoprolol, and amiodarone proved futile. Subsequent heart failure led to the patient\'s demise due to cardiac shock. Based on crystal protein structural analysis, we observed that cTnI-R170Q and R170W exerted similar impacts on protein structural stability and formation. However, both differed significantly from cTnI-R170G, primarily influencing amino acid regions 32-79 and 129-149, involved in TnC and actin binding. Therefore, cTnI-R170Q was revealed to induce RCM via the same molecular mechanism as cTnI-R170W.
UNASSIGNED: Managing RCM remains a critical challenge. This study underscores the discouragement of device implantations for cardiac pump functional support in RCM, particularly for non-short-term scheduled HTx. Additionally, considering catheter ablation for atrial fibrosis-induced AFs is recommended. Mechanistically, cTnI-R170Q primarily diminishes troponin-actin interactions and destabilizes thin filaments.

Restrictive cardiomyopathy is one of the rarest forms of cardiomyopathies in paediatric patients characterised by impaired myocardial relaxation or compliance with restricted ventricular filling, leading to a reduced diastolic volume with a preserved systolic function. We report 2 cases-a 5-year-old boy who presented with abdominal distension and palpitation with family history of similar complaints but no definite genetic diagnosis as yet and a 5-year-old girl who presented with chronic cough and shortness of breath. Both cases were diagnosed in a tertiary care hospital in Muscat, Oman, in 2019 and are managed supportively with regular outpatient follow-up. This is the first series of reported cases of paediatric restrictive cardiomyopathy from Oman.