Pediatric restrictive cardiomyopathy: a case report.

Restrictive cardiomyopathy (RCM) is a rare childhood cardiomyopathy that is a challenging diagnostic problem for clinicians. We describe a case of an 8-year-old girl with a 2-year history of shortness of breath on exertion. Electrocardiogram and echocardiography showed biatrial enlargement, while cardiac magnetic resonance showed biatrial dilation and normal pericardial thickness. Left and right heart catheterization revealed a left ventricular (LV) end-diastolic pressure (EDP) of 20 mmHg, right ventricular (RV) EDP of 13 mmHg, and pulmonary arterial systolic pressure of 51 mmHg. LV and RV pressure traces showed that LV and RV pressures moved concordantly with respiration, and that the systolic area index was 0.98. Cardiac catheterization data were therefore supportive of RCM. Next-generation sequencing identified a heterozygous variant of the troponin I gene (TNNI3; c.574C>T). Combining these findings led to a diagnosis of RCM. The patient's parents chose conservative treatment, but at the 12-month follow-up she died of worsening heart failure and cerebral infarction. This case emphasizes the need for cardiac catheterization and genetic testing in RCM, and suggests that anticoagulants should be recommended to reduce the risk of thromboembolic events.

Multimodality Imaging in Differentiating Constrictive Pericarditis From Restrictive Cardiomyopathy: A Comprehensive Overview for Clinicians and Imagers.

In the evaluation of heart failure, 2 differential diagnostic considerations include constrictive pericarditis and restrictive cardiomyopathy. The often outwardly similar clinical presentation of these 2 pathologic entities routinely renders their clinical distinction difficult. Consequently, initial assessment requires a keen understanding of their separate pathophysiology, epidemiology, and hemodynamic effects. Following a detailed clinical evaluation, further assessment initially rests on comprehensive echocardiographic investigation, including detailed Doppler evaluation. With the combination of mitral inflow characterization, tissue Doppler assessment, and hepatic vein interrogation, initial differentiation of constrictive pericarditis and restrictive cardiomyopathy is often possible with high sensitivity and specificity. In conjunction with a compatible clinical presentation, successful differentiation enables both an accurate diagnosis and subsequent targeted management. In certain cases, however, the diagnosis remains unclear despite echocardiographic assessment, and additional evaluation is required. With advances in noninvasive tools, such evaluation can often continue in a stepwise, algorithmic fashion noninvasively, including both cross-sectional and nuclear imaging. Should this additional evaluation itself prove insufficient, invasive assessment with appropriate expertise may ultimately be necessary.

Restrictive cardiomyopathy caused by diffuse calcification of the left ventricle after 20 years of haemodialysis.

Valvular and vascular calcifications are common among patients with end-stage renal disease, but diffuse calcification of the left ventricle is rarely reported. We report on a rare case of restrictive cardiomyopathy resulting from severe myocardial calcification and review the literature. A 77-year-old man was diagnosed with end-stage renal disease after having received regular haemodialysis for 20 years. He was referred to our emergency room due to exertional dyspnoea and exacerbated shortness of breath. A chest X-ray revealed severe pulmonary oedema and bilateral massive pleural effusion. Transthoracic echocardiography revealed impaired diastolic function of the left ventricle but preserved systolic function with a 50% ejection fraction. Repeat chest computed tomography demonstrated exacerbation of the calcification from the mitral annulus to the whole circular left ventricle. A coronary angiogram revealed non-significant stenosis, and right heart catheterisation demonstrated elevated pulmonary capillary wedge pressure. He was discharged after two weeks of conservative medication.

Miocardiopatía restrictiva: la importancia de su diagnóstico precoz / Restrictive cardiomyopathy: Importance of early diagnosis

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Restrictive cardiomyopathy: A rare presentation of gaucher disease.

Restrictive cardiomyopathy is an unusual form of cardiomyopathy accounting only for 2%-5% of all pediatric cardiomyopathies. It is mostly idiopathic. Gaucher disease in association with restrictive cardiomyopathy is extremely rare. We herein report a case of cardiac failure in an 8-year-old male child caused by restrictive cardiomyopathy. Pathogenesis of which was attributed to Gaucher disease. In any case of restrictive cardiomyopathy, Gaucher disease should be included in differential diagnosis and investigated accordingly.

Résumé La cardiomyopathie restrictive est une forme inhabituelle de cardiomyopathie qui ne représente que 2 à 5 % de toutes les cardiomyopathies pédiatriques. C'est surtout idiopathique. La maladie de Gaucher associée à une cardiomyopathie restrictive est extrêmement rare. Nous rapportons ici un cas d'insuffisance cardiaque dans un Enfant de sexe masculin de 8 ans causé par une cardiomyopathie restrictive. dont la pathogenèse a été attribuée à la maladie de Gaucher. En tout cas de restriction cardiomyopathie, la maladie de Gaucher doivent être incluses dans le diagnostic différentiel et étudiées en conséquence.

Neutrophil degranulation biomarkers characterize restrictive echocardiographic pattern with diastolic dysfunction in patients with diabetes.

OBJECTIVE: To investigate the potential association between neutrophil degranulation and patterns of myocardial dysfunction in a cohort of patients with type 2 diabetes mellitus (T2DM). BACKGROUND: Two distinct phenotypes of diabetic cardiomyopathy have been described: a restrictive phenotype with diastolic dysfunction (restrictive/DD) and a dilative phenotype with systolic dysfunction (dilative/SD). However, the underlying determinants of these two patterns are not yet recognized. METHODS: In this single-centre, observational, cross-sectional study, 492 patients were recruited. Ultrasonographic measurements were performed by two experienced sonographers, blinded to the clinical data of the participants. Serum biomarkers of neutrophil degranulation were measured by enzyme-linked immunosorbent sandwich assay (ELISA). RESULTS: After adjustment for confounders, resistin, myeloperoxidase, matrix metalloproteinase 8 and matrix metalloproteinase 9/tissue inhibitor of metalloproteinases 1 complex were positively associated with the restrictive/DD pattern compared with the normal pattern. Similarly, MPO was positively associated with the dilative/SD pattern compared with the normal pattern, and resistin was negatively associated with the dilative/SD pattern compared with the restrictive/DD pattern. CONCLUSIONS: Neutrophil degranulation is associated with the restrictive/DD echocardiographic pattern in patients with T2DM, but not with the normal pattern and dilative/SD patterns. Neutrophils could have a pivotal role in the pathogenesis of myocardial dysfunction, and particularly diastolic dysfunction, in patients with T2DM.

Fibrosis endomiocárdica: una cardiomiopatía restrictiva en países en vía de desarrollo / Endomyocardial fibrosis: a restrictive cardiomyopathy in developing countries

Resumen Objetivo: La fibrosis endomiocárdica (FE) es una cardiomiopatía restrictiva infrecuente. En América Latina son escasos los reportes. En el presente trabajo se realiza una descripción de una serie de pacientes diagnosticados de FE en Colombia. Método: Realizamos una búsqueda en los registros de imágenes de resonancia magnética (RM) cardiaca realizadas en nuestra institución entre 2016 y 2019 en busca de pacientes con diagnóstico de FE. Se describieron sus características sociodemográficas, clínicas y de imagen. Resultados: Nueve pacientes fueron diagnosticados de FE (el 66.7% mujeres), con una edad promedio de 69 años. Los pacientes presentaron un promedio de 2.6 años de evolución. El principal síntoma referido fue disnea, seguido de síncope, dolor torácico y palpitaciones. En ninguno de ellos se sospechó FE como diagnóstico inicial. En cuanto a los hallazgos ecocardiográficos, se identificó compromiso predominante del ventrículo izquierdo, seguido de compromiso biventricular. Todos los pacientes presentaron patrón de llenado restrictivo con dilatación auricular izquierda severa. En el análisis retrospectivo se cumplieron los criterios de Mocumbi para el diagnóstico de FE en el 100% de los pacientes con gravedad moderada (77.8%). Las imágenes de RM mostraron función sistólica biventricular y volúmenes preservados. Se observó depósito focal de gadolinio subendocárdico a nivel apical y se confirmó la presencia de trombo en el 66% de los casos Conclusión:: La FE es una cardiomiopatía restrictiva infrecuente circunscrita a países tropicales. La mayoría de los pacientes en nuestra serie presentaron compromiso aislado del ventrículo izquierdo, seguido de compromiso biventricular, con función ventricular usualmente preservada.

Abstract Objective: Endomyocardial fibrosis (EF) is an unusual restrictive cardiomyopathy. In Latin America there are few reports. Here, we made a description of patients diagnosed with EF in Colombia. Method: We conducted a search in the records of cardiac magnetic resonance imaging (MRI) performed in our institution between 2016-2019 looking for patients with a diagnosis of EF; sociodemographic, clinical and imaging characteristics were described. Results: Nine patients were diagnosed with EF (66.7% female), with an average age of 69 years. Patients presented an average evolution of 2.6 years. The main reported symptom was dyspnea, followed by syncope, chest pain, and palpitations. None of them was initially suspected for EF. Regarding echocardiographic findings, predominant left ventricular involvement was identified, followed by bi-ventricular involvement. All the patients presented a restrictive filling pattern with severe left atrial dilation. In a retrospective analysis, Mocumbi criteria for diagnosis of EF were met in 100% of the patients, majority with moderate severity (77.8%). Cardiac MRI showed biventricular systolic function and volumes preserved. Focal subendocardial late gadolinium enhancement was observed on the apex and apical thrombus was confirmed in 66% of the patients Conclusion: FE is an uncommon restrictive cardiomyopathy limited to tropical countries. Most of patients in our series presented isolated involvement of left ventricle, followed by bi-ventricular involvement, with ventricular function usually preserved.

Endomyocardial fibrosis: a restrictive cardiomyopathy in developing countries.

OBJECTIVE: Endomyocardial fibrosis (EF) is an unusual restrictive cardiomyopathy. In Latin America there are few reports. Here, we made a description of patients diagnosed with EF in Colombia. METHOD: We conducted a search in the records of cardiac magnetic resonance imaging (MRI) performed in our institution between 2016-2019 looking for patients with a diagnosis of EF; sociodemographic, clinical and imaging characteristics were described. RESULTS: Nine patients were diagnosed with EF (66.7% female), with an average age of 69 years. Patients presented an average evolution of 2.6 years. The main reported symptom was dyspnea, followed by syncope, chest pain, and palpitations. None of them was initially suspected for EF. Regarding echocardiographic findings, predominant left ventricular involvement was identified, followed by bi-ventricular involvement. All the patients presented a restrictive filling pattern with severe left atrial dilation. In a retrospective analysis, Mocumbi criteria for diagnosis of EF were met in 100% of the patients, majority with moderate severity (77.8%). Cardiac MRI showed biventricular systolic function and volumes preserved. Focal subendocardial late gadolinium enhancement was observed on the apex and apical thrombus was confirmed in 66% of the patients. CONCLUSION: FE is an uncommon restrictive cardiomyopathy limited to tropical countries. Most of patients in our series presented isolated involvement of left ventricle, followed by bi-ventricular involvement, with ventricular function usually preserved.

OBJETIVO: La fibrosis endomiocárdica (FE) es una cardiomiopatía restrictiva infrecuente. En América Latina son escasos los reportes. En el presente trabajo se realiza una descripción de una serie de pacientes diagnosticados de FE en Colombia. MÉTODO: Realizamos una búsqueda en los registros de imágenes de resonancia magnética (RM) cardiaca realizadas en nuestra institución entre 2016 y 2019 en busca de pacientes con diagnóstico de FE. Se describieron sus características sociodemográficas, clínicas y de imagen. RESULTADOS: Nueve pacientes fueron diagnosticados de FE (el 66.7% mujeres), con una edad promedio de 69 años. Los pacientes presentaron un promedio de 2.6 años de evolución. El principal síntoma referido fue disnea, seguido de síncope, dolor torácico y palpitaciones. En ninguno de ellos se sospechó FE como diagnóstico inicial. En cuanto a los hallazgos ecocardiográficos, se identificó compromiso predominante del ventrículo izquierdo, seguido de compromiso biventricular. Todos los pacientes presentaron patrón de llenado restrictivo con dilatación auricular izquierda severa. En el análisis retrospectivo se cumplieron los criterios de Mocumbi para el diagnóstico de FE en el 100% de los pacientes con gravedad moderada (77.8%). Las imágenes de RM mostraron función sistólica biventricular y volúmenes preservados. Se observó depósito focal de gadolinio subendocárdico a nivel apical y se confirmó la presencia de trombo en el 66% de los casos. CONCLUSIÓN: La FE es una cardiomiopatía restrictiva infrecuente circunscrita a países tropicales. La mayoría de los pacientes en nuestra serie presentaron compromiso aislado del ventrículo izquierdo, seguido de compromiso biventricular, con función ventricular usualmente preservada.

Amiloidose cardíaca: cardiomiopatia infiltrativa com comportamento hemodinâmico restritivo ­ relato de caso / Cardiac amyloidosis: infiltrative cardiomyopathy with restrictive hemodynamic behavior ­ case report

A amiloidose é uma condição rara que descreve um grupo heterogêneo de distúrbios que cursam com a deposição extracelular de agregados proteicos fibrilares em tecidos e órgãos. Relata-se aqui o caso de paciente do sexo masculino, com 76 anos de idade, que, há 2 meses, iniciou quadro progressivo de dispneia aos mínimos esforços. Na investigação, observou-se aumento cardíaco global, e o ecocardiograma evidenciou cardiopatia restritiva infiltrativa e derrame pericárdico. Pela elevada suspeição clínica, foi solicitada ressonância magnética cardíaca, que foi altamente sugestiva de amiloidose cardíaca. Dessa forma, assim como no caso relatado, o acometimento cardíaco possui como principal forma de manifestação o tipo miocardiopatia restritivo, sendo um quadro de insuficiência cardíaca crônica com etiologia de difícil diagnóstico em pacientes acima de 50 anos, com prognóstico bastante reservado. Assim, apesar de permanecer como um desafio diagnóstico para o clínico, sua hipótese deve sempre ser aventada na ausência de outra causa que justifique tais achados (AU)

Cardiovascular magnetic resonance (CMR) in restrictive cardiomyopathies.

The restrictive cardiomyopathies constitute a heterogeneous group of myocardial diseases with a different pathogenesis and overlapping clinical presentations. Diagnosing them frequently poses a challenge. Echocardiography, electrocardiograms and laboratory tests may show non-specific changes. In this context, cardiac magnetic resonance (CMR) may play a crucial role in defining the diagnosis and guiding treatments, by offering a robust myocardial characterization based on the inherent magnetic properties of abnormal tissues, thus limiting the use of endomyocardial biopsy. In this review article, we explore the role of CMR in the assessment of a wide range of myocardial diseases causing restrictive patterns, from iron overload to cardiac amyloidosis, endomyocardial fibrosis or radiation-induced heart disease. Here, we emphasize the incremental value of novel relaxometric techniques such as T1 and T2 mapping, which may recognize different storage diseases based on the intrinsic magnetic properties of the accumulating metabolites, with or without the use of gadolinium-based contrast agents. We illustrate the importance of these CMR techniques and their great support when contrast media administration is contraindicated. Finally, we describe the useful role of cardiac computed tomography for diagnosis and management of restrictive cardiomyopathies when CMR is contraindicated.

Hemodynamics of constrictive pericarditis and restrictive cardiomyopathy.

Constrictive pericarditis (CP) and restrictive cardiomyopathy (RCM) are indolent disabling diseases of diastolic function. The two conditions share common pathophysiologic features, resulting in similar and overlapping clinical presentations, echocardiographic findings, and hemodynamic characteristics. However, their clinical course differs, as CP is surgically curable whereas RCM is a chronic condition managed medically. Separating these two entities is based on delineation of anatomic and physiologic derangements employing multimodality hemodynamic interrogation by advanced imaging techniques (Echo-Doppler, CT, and especially MRI) combined with sophisticated invasive hemodynamics.

Clinical, epidemiological and echocardiographic features and prognostic factors in cats with restrictive cardiomyopathy: A retrospective study of 92 cases (2001-2015).

BACKGROUND: Restrictive cardiomyopathy (RCM) is a common primary cardiomyopathy of cats. However, little information is available regarding prognostic variables in large populations of cats with RCM. OBJECTIVES: To characterize the epidemiological, clinical, and echocardiographic features of cats with RCM and to document their survival times and risk factors for cardiac death (CD). ANIMALS: Ninety-two cats with RCM. METHODS: Retrospective study. Diagnosis of RCM was based on echocardiographic and Doppler criteria. Median survival time to CD and adjusted hazard ratios (HR) were estimated by the Kaplan-Meier method and multivariate Cox models, respectively. RESULTS: The feline population (median age [interquartile range], 8.6 years [4.1-12.4]; body weight, 4.0 kg [3.3-4.7]) included 83 cats (90%) with the myocardial RCM form and 9 (10%) with the endomyocardial fibrosis RCM form. Most RCM cats (64/92, 70%) were symptomatic at the time of diagnosis, with dyspnea related to congestive heart failure in 57 of 64 cats (89%). The median survival time of the 69 cats with the myocardial RCM form and available follow-up was 667 days (range, 2-3710 days) considering CD. Independent of age, biatrial enlargement, and arrhythmias, increase of the left atrium (LA)-to-aorta (Ao) ratio (hazard ration [HR], 2.5 per 0.5-unit increase; 95% confidence interval [CI], 1.5-4.2; P < .001) and presence of severe LA enlargement (end-diastolic LA : Ao ≥2; HR, 3.4; 95% CI, 1.3-8.7; P = .01) were significantly associated with shorter time to CD. CONCLUSIONS AND CLINICAL IMPORTANCE: Cardiac death is common in RCM cats, and LA enlargement seems independently associated with decreased survival time in these cats.

Incremental Value of the Tissue Motion of Annular Displacement Derived From Speckle-Tracking Echocardiography for Differentiating Chronic Constrictive Pericarditis From Restrictive Cardiomyopathy.

OBJECTIVES: The tissue motion of annular displacement provides an accurate and rapid assessment of left ventricular (LV) systolic function. However, it has rarely been used in patients with chronic constrictive pericarditis and restrictive cardiomyopathy. This study aimed to assess the differences in LV systolic function in patients with constrictive pericarditis and restrictive cardiomyopathy using tissue motion of annular displacement derived from speckle-tracking echocardiography. METHODS: Twenty-four patients with constrictive pericarditis, 24 with restrictive cardiomyopathy, and 25 healthy volunteers (controls) were enrolled. The septal and lateral mitral annular longitudinal displacements, displacement at the midpoint, and normalized midpoint displacement of the mitral ring were calculated. RESULTS: Mitral annular tracking and quantification of the tissue motion of annular displacement were achieved within 10 seconds. In patients with constrictive pericarditis, the lateral mitral annular longitudinal displacement, displacement at the midpoint, and midpoint displacement of the mitral ring were decreased, whereas the septal mitral annular longitudinal displacement was preserved compared to controls, indicating that the reduction of systolic function in constrictive pericarditis was caused by pericardial adhesion and calcium. In patients with restrictive cardiomyopathy, tissue motion of annular displacement was more reduced compared to patients with constrictive pericarditis and controls. The correlation between the septal mitral annular longitudinal displacement and left ventricular ejection fraction was 0.67 (P < .001). A cutoff value of 8.45 mm for the septal mitral annular longitudinal displacement could effectively differentiate constrictive pericarditis from restrictive cardiomyopathy with 95.2% sensitivity and 91.7% specificity. CONCLUSIONS: The tissue motion of annular displacement was decreased in patients with constrictive pericarditis, which indicated early impairment of longitudinal function in constrictive pericarditis; adhesion and calcium in the pericardium might account for the reduction. The septal mitral annular longitudinal displacement provides a fast and effective method for the assessment of LV systolic function in patients with constrictive pericarditis and restrictive cardiomyopathy.