RESUMEN
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.
Asunto(s)
Cardiomiopatía Restrictiva , Humanos , Cardiomiopatía Restrictiva/diagnóstico , Preescolar , Masculino , Femenino , Omán , Ecocardiografía/métodosRESUMEN
Preoperative calculations showed that the 9-mm inlet, 6-mm outlet, 25-cc pump chambers and 65-73 bpm would be optimal for a 5-year-old patient suffering from restrictive cardiomyopathy, with a body surface area of 0.59 m2 (1.5 L/min flow for a cardiac index of 2.5). After re-sternotomy and standard bicaval cannulation for cardiopulmonary bypass, the procedure was performed under normothermic conditions and on the beating heart. Biventricular support was established with the Berlin Heart Excor using biatrial cannulation. For left atrial cannulation, induced ventricular fibrillation was used. The 9-mm inlet cannulas were inserted into the left and right atria, respectively. The 6-mm outlet cannulas were implanted using 8-mm interposition vascular grafts for the aorta and the main pulmonary artery, respectively. Cannulas were tunnelled through the epigastric space, with systems crossing outside of the body. The 25-cc chambers were used for both right ventricular assist device and left ventricular assist device support, which subsequently showed full emptying and filling.
Asunto(s)
Cardiomiopatía Restrictiva , Corazón Auxiliar , Humanos , Cardiomiopatía Restrictiva/cirugía , Cardiomiopatía Restrictiva/diagnóstico , Masculino , Preescolar , Atrios Cardíacos/cirugía , Cateterismo Cardíaco/métodos , Cateterismo Cardíaco/instrumentación , Insuficiencia Cardíaca/cirugía , Implantación de Prótesis/métodosRESUMEN
BACKGROUND AND AIMS: Idiopathic restrictive cardiomyopathy (RCM) has a low incidence. This study aimed to determine the prognostic value of big endothelin-1 (ET-1) in idiopathic RCM. MATERIALS AND METHODS: We prospectively enrolled patients with idiopathic RCM from 2009 to 2017 and followed them up. The primary outcome was a composite of all-cause mortality and cardiac transplantation, and the secondary outcome was a composite of cardiac death and cardiac transplantation. RESULTS: Ninety-one patients were divided into the high big ET-1 (>0.85 pmol/L, n = 56) and low big ET-1 (≤0.85 pmol/L, n = 35) groups, and 87 of them completed the follow-up. Big ET-1 concentrations (hazard ratio: 1.756, 95 % confidence interval [CI]: 1.117-2.760) and late gadolinium enhancement (LGE) (hazard ratio: 3.851, 95 % CI: 1.238-11.981) were independent risk factors for the primary outcome. Big ET-1 concentrations (C-statistic estimation: 0.764, 95 % CI: 0.657-0.871) and the combination of LGE and big ET-1 concentrations (C-statistic estimation: 0.870, 95 % CI: 0.769-0.970) could accurately predict the 5-year transplant-free survival rate, and 0.85 pmol/L was a suitable cutoff for big ET-1. CONCLUSION: Big ET-1 and its combination with LGE may be useful to predict an adverse prognosis in patients with idiopathic RCM.
Asunto(s)
Cardiomiopatía Restrictiva , Endotelina-1 , Gadolinio , Humanos , Endotelina-1/sangre , Masculino , Femenino , Persona de Mediana Edad , Pronóstico , Cardiomiopatía Restrictiva/diagnóstico , Cardiomiopatía Restrictiva/diagnóstico por imagen , Adulto , Estudios Prospectivos , Imagen por Resonancia Magnética , Medios de ContrasteRESUMEN
BACKGROUND: Restrictive cardiomyopathy in children is rare and outcomes are very poor. However, little information is available concerning genotype-outcome correlations. METHODS: We analyzed the clinical characteristics and genetic testing, including whole exome sequencing, of 28 pediatric restrictive cardiomyopathy patients who were diagnosed from 1998 to 2021 at Osaka University Hospital in Japan. RESULTS: The median age at diagnosis (interquartile range) was 6 (2.25-8.5) years. Eighteen patients received heart transplantations and 5 patients were on the waiting list. One patient died while waiting for transplantation. Pathologic or likely-pathogenic variants were identified in 14 of the 28 (50%) patients, including heterozygous TNNI3 missense variants in 8 patients. TNNT2, MYL2, and FLNC missense variants were also identified. No significant differences in clinical manifestations and hemodynamic parameters between positive and negative pathogenic variants were detected. However, 2- and 5-year survival rates were significantly lower in patients with pathogenic variants (50% and 22%) compared with survival in patients without pathogenic variants (62% and 54%; P=0.0496, log-rank test). No significant differences were detected in the ratio of patients diagnosed at nationwide school heart disease screening program between positive and negative pathogenic variants. Patients diagnosed by school screening showed better transplant-free survival compared with patients diagnosed by heart failure symptoms (P=0.0027 in log-rank test). CONCLUSIONS: In this study, 50% of pediatric restrictive cardiomyopathy patients had pathogenic or likely-pathogenic gene variants, and TNNI3 missense variants were the most frequent. Patients with pathogenic variants showed significantly lower transplant-free survival compared with patients without pathogenic variants.
Asunto(s)
Cardiomiopatía Restrictiva , Cardiopatías , Humanos , Niño , Cardiomiopatía Restrictiva/diagnóstico , Cardiomiopatía Restrictiva/genética , Pruebas Genéticas , Genotipo , Heterocigoto , Mutación Missense , Cardiopatías/genéticaRESUMEN
A pericardite constritiva (PC) é uma condição na qual a cicatrização e perda de elasticidade do pericárdio resultam em enchimento ventricular prejudicado, disfunção diastólica e insuficiência cardíaca direita. O diagnóstico dessa patologia é desafiador, sendo frequente a necessidade de técnicas de imagem multimodal, dentre as quais a ecocardiografia representa a modalidade de imagem inicial para a avaliação diagnóstica, além de permitir a diferenciação da PC da cardiomiopatia restritiva (CMR) e outras condições que mimetizam constrição. (AU)
Constrictive pericarditis (CP) is a condition in which scarring and loss of elasticity of the pericardium result in impaired ventricular filling, diastolic dysfunction, and right heart failure. The diagnosis of this pathology is challenging, with frequent need for multimodal imaging techniques, among which echocardiography represents the initial imaging modality for the diagnostic evaluation, in addition to allowing the differentiation of CP from restrictive cardiomyopathy (RCM) and other conditions that mimic constriction. (AU)
Asunto(s)
Humanos , Adolescente , Anciano , Anciano de 80 o más Años , Adulto Joven , Pericarditis Constrictiva/fisiopatología , Pericarditis Constrictiva/diagnóstico por imagen , Pericardio/anomalías , Insuficiencia Cardíaca/etiología , Pericardio/anatomía & histología , Tuberculosis/complicaciones , Cardiomiopatía Restrictiva/diagnóstico , Ecocardiografía/métodos , Espectroscopía de Resonancia Magnética/métodos , Tomografía Computarizada por Rayos X/métodosRESUMEN
A 45-years-old Indonesian woman was admitted to the hospital with nausea, vomiting, abdominal pain and tachyarrhythmia. Atrial fibrillation was found at ECG, blood tests showed mild hepatic function alterations. Radiological exams showed bilateral pleural effusions, ascites, hepatomegaly. Systolic and diastolic functions of the left ventricle were found to be strongly compromised at US. Physical conditions and laboratory results worsened rapidly, followed by multi organ failure. Death occurred 28 hours after admission. An autopsy was performed to clarify the cause of death and investigated medical malpractice. External examination showed jaundice skin and at internal examination bilateral pleural and pericardial effusions, ascites, mild cardiomegaly, ventricular endocardial fibrosis, a thrombus in tight junction to the left ventricular wall and hepatic necrosis were observed. Histological investigations revealed a massive endomyocardial fibrosis, detected through Azan-Mallory and Verhoef-Van-Gieson stain, and confirmed the presence of hepatic and renal necrosis. Toxicological and microbiological investigations were negative. The cause of death was a global cardiac dysfunction caused by a restrictive cardiomyopathy in an Indonesian woman affected by an undiagnosed and asymptomatic endomyocardial fibrosis. In this case, autopsy and histopathological investigations were fundamental to diagnose an occult endomyocardial fibrosis, which is an idiopathic disorder of tropical and subtropical regions of the world. The not common incidence of this disease in our country and its unusual clinical onset were at first perceived as a medical malpractice from the relatives. Consequently, the clinical aspects of the case intertwine with the medicolegal implications concerning the undiagnosed disease and the causality with the patient's death.
Asunto(s)
Cardiomiopatía Restrictiva , Fibrosis Endomiocárdica , Derrame Pericárdico , Femenino , Humanos , Persona de Mediana Edad , Fibrosis Endomiocárdica/diagnóstico , Fibrosis Endomiocárdica/patología , Cardiomiopatía Restrictiva/diagnóstico , Cardiomiopatía Restrictiva/etiología , Diagnóstico Diferencial , Ascitis/complicaciones , Ascitis/diagnóstico , Muerte Súbita , NecrosisRESUMEN
Restrictive cardiomyopathy (RCM) is a heterogeneous group of diseases characterized by restrictive left ventricular pathophysiology, i.e. a rapid rise in ventricular pressure with only small increases in filling volume due to increased myocardial stiffness. More precisely, the defining feature of RCM is the coexistence of persistent restrictive pathophysiology, diastolic dysfunction, non-dilated ventricles, and atrial dilatation, regardless of ventricular wall thickness and systolic function. Beyond this shared haemodynamic hallmark, the phenotypic spectrum of RCM is wide. The disorders manifesting as RCM may be classified according to four main disease mechanisms: (i) interstitial fibrosis and intrinsic myocardial dysfunction, (ii) infiltration of extracellular spaces, (iii) accumulation of storage material within cardiomyocytes, or (iv) endomyocardial fibrosis. Many disorders do not show restrictive pathophysiology throughout their natural history, but only at an initial stage (with an evolution towards a hypokinetic and dilated phenotype) or at a terminal stage (often progressing from a hypertrophic phenotype). Furthermore, elements of both hypertrophic and restrictive phenotypes may coexist in some patients, making the classification challenge. Restrictive pathophysiology can be demonstrated by cardiac catheterization or Doppler echocardiography. The specific conditions may usually be diagnosed based on clinical data, 12-lead electrocardiogram, echocardiography, nuclear medicine, or cardiovascular magnetic resonance, but further investigations may be needed, up to endomyocardial biopsy and genetic evaluation. The spectrum of therapies is also wide and heterogeneous, but disease-modifying treatments are available only for cardiac amyloidosis and, partially, for iron overload cardiomyopathy.
Asunto(s)
Cardiomiopatía Restrictiva , Disfunción Ventricular Izquierda , Humanos , Cardiomiopatía Restrictiva/diagnóstico , Cardiomiopatía Restrictiva/patología , Ecocardiografía Doppler , Disfunción Ventricular Izquierda/patología , Miocardio/patología , EcocardiografíaRESUMEN
Herein, we describe histological mobilization of light chain cardiac amyloid documented by sequential left ventricular endomyocardial biopsies. These findings were associated with positive remodelling of cardiomyocytes and of restrictive cardiomyopathy resulting from 14 courses of chemotherapy over 17 years of time. Histological and ultrastructural findings of light chain cardiac amyloid removal led to increase in cardiomyocyte dimension and electrocardiogram voltages, reduction of biventricular wall thickness with improvement of left ventricular diastolic function, and NYHA class shifting from III to I.
Asunto(s)
Cardiomiopatía Restrictiva , Humanos , Cardiomiopatía Restrictiva/diagnóstico , Cardiomiopatía Restrictiva/metabolismo , Miocitos Cardíacos/metabolismo , Miocardio/patología , Amiloide/metabolismo , BiopsiaRESUMEN
BACKGROUND: Restrictive cardiomyopathy (RCM) presents a high risk for sudden cardiac death in pediatric patients. Constrictive pericarditis (CP) exhibits a similar clinical presentation to RCM and requires differential diagnosis. While mutations of genes that encode sarcomeric and cytoskeletal proteins may lead to RCM, infection, rather than gene mutation, is the main cause of CP. Genetic testing may be helpful in the clinical diagnosis of RCM. METHODS: In this case series study, we screened for TNNI3, TNNT2, and DES gene mutations that are known to be etiologically linked to RCM in four pediatric patients with suspected RCM. RESULTS: We identified one novel heterozygous mutation, c.517C>T (substitution, position 517 C â T) (amino acid conversion, p.Leu173Phe), and two already known heterozygous mutations, c.508C>T (substitution, position 508, C â T) (amino acid conversion, p.Arg170Trp) and c.575G>A (substitution, position 575, G â A) (amino acid conversion, p.Arg192His), in the TNNI3 gene in three of the four patients. CONCLUSION: Our findings support the notion that genetic testing may be helpful in the clinical diagnosis of RCM.
Asunto(s)
Cardiomiopatía Restrictiva , Pruebas Genéticas , Pericarditis Constrictiva , Aminoácidos/genética , Cardiomiopatía Restrictiva/diagnóstico , Cardiomiopatía Restrictiva/genética , Niño , Desmina/genética , Pruebas Genéticas/métodos , Humanos , Mutación , Pericarditis Constrictiva/diagnóstico , Troponina I/genética , Troponina T/genéticaRESUMEN
Restrictive cardiomyopathy (RCM) includes a heterogeneous group of diseases that cause increased myocardial stiffness, leading to impaired ventricular relaxation and severe diastolic dysfunction. Given that it is the least common type of cardiomyopathy, it can be a diagnostic challenge due to its varied pathogenesis, clinical presentation, and diagnostic evaluation. In this review, we provide an overview of different etiologies of RCM and examine the diagnostic and treatment approaches for various types.
Asunto(s)
Cardiomiopatías , Cardiomiopatía Restrictiva , Cardiomiopatías/diagnóstico por imagen , Cardiomiopatías/terapia , Cardiomiopatía Restrictiva/diagnóstico , Cardiomiopatía Restrictiva/etiología , Cardiomiopatía Restrictiva/terapia , Humanos , Miocardio/patologíaRESUMEN
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.
Asunto(s)
Cardiomiopatías , Cardiomiopatía Restrictiva , Animales , Cardiomiopatías/genética , Cardiomiopatías/terapia , Cardiomiopatía Restrictiva/diagnóstico , Cardiomiopatía Restrictiva/genética , Cardiomiopatía Restrictiva/terapia , Humanos , FenotipoRESUMEN
Previous studies have shown that natriuretic peptide levels are increased in patients with restrictive cardiomyopathy (RCM) but not in constrictive pericarditis (CP). We performed a systematic review and meta-analysis to evaluate the diagnostic utility of B-type natriuretic peptide (BNP) and N-terminal pro-brain natriuretic peptide (NT-proBNP) to differentiate CP and RCM. We searched electronic databases from inception to January 07, 2021. Studies involving adult patients that assessed the utility of natriuretic peptides to differentiate CP and RCM were included. All meta-analyses were performed using a random-effects model. Seven studies (four case-control and three cohorts) involving 204 patients were included. The mean age ranged between 25.7 and 64.1 years and 77% of patients were men. BNP levels were significantly lower (standardized median difference [SMD], -1.48; 95% confidence interval [CI], -2.33 to -0.63) in patients with CP compared to RCM. The pooled area under the curve (AUC) of the BNP level was 0.81 (95% CI, 0.70-0.92). NT-proBNP (SMD, -0.86; 95% CI, -1.38 to -0.33) and log NT-proBNP (SMD, -1.89; 95% CI, -2.59 to -1.20) levels were significantly lower in patients with CP compared to RCM. Our review shows that BNP and NT-proBNP levels were significantly lower in patients with CP compared to RCM. The pooled AUC of BNP level showed a good diagnostic accuracy to differentiate both conditions.
Asunto(s)
Cardiomiopatía Restrictiva , Pericarditis Constrictiva , Adulto , Biomarcadores , Cardiomiopatía Restrictiva/diagnóstico , Estudios de Casos y Controles , Humanos , Masculino , Persona de Mediana Edad , Péptido Natriurético Encefálico , Péptidos Natriuréticos , Fragmentos de Péptidos , Pericarditis Constrictiva/diagnósticoRESUMEN
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.
Asunto(s)
Calcinosis , Cardiomiopatía Restrictiva , Fallo Renal Crónico , Anciano , Calcinosis/complicaciones , Calcinosis/diagnóstico por imagen , Cardiomiopatía Restrictiva/diagnóstico , Cardiomiopatía Restrictiva/diagnóstico por imagen , Ventrículos Cardíacos/diagnóstico por imagen , Humanos , Fallo Renal Crónico/complicaciones , Fallo Renal Crónico/diagnóstico , Fallo Renal Crónico/terapia , Masculino , Diálisis Renal/efectos adversos , Función Ventricular IzquierdaRESUMEN
The association between large pericardial effusion and restrictive cardiomyopathy (RCM) is uncommon and has seldom been described. We describe an uncommon case of a 31-year-old male with RCM who presented with large, recurrent pericardial effusion, heart failure, and echocardiographic findings showing progressive worsening of diastolic function even after total pericardiectomy who was eventually transferred for cardiac transplant evaluation.
Asunto(s)
Cardiomiopatía Restrictiva , Derrame Pericárdico , Adulto , Cardiomiopatía Restrictiva/diagnóstico , Cardiomiopatía Restrictiva/etiología , Ecocardiografía , Humanos , Masculino , Derrame Pericárdico/diagnóstico por imagen , Derrame Pericárdico/etiología , Pericardiectomía , RecurrenciaRESUMEN
No disponible
Asunto(s)
Humanos , Recién Nacido , Lactante , Preescolar , Niño , Adolescente , Cardiomiopatía Restrictiva/complicaciones , Cardiomiopatía Restrictiva/diagnóstico por imagen , Cardiomiopatía Restrictiva/diagnóstico , España , Estudios RetrospectivosRESUMEN
Myocardial fibrosis detected by cardiac magnetic resonance (CMR) has been reported in patients with desmin-related myopathy, although its characteristics remain unclear. Here, we describe a case of desmin-related restrictive cardiomyopathy wherein CMR imaging revealed myocardial oedema, ischaemia, and fibrosis in the left ventricle; the different types and processes of myocardial injury were detected by CMR. Middle wall left ventricular enhancement may be a feature of late gadolinium enhancement, and the lateral wall is often involved in cases of myocardial injury. CMR is useful for the early detection of cardiac involvement and the prediction of prognosis in patients diagnosed with desmin-related myopathy.
Asunto(s)
Cardiomiopatías/diagnóstico , Cardiomiopatía Restrictiva , Distrofias Musculares/diagnóstico , Cardiomiopatía Restrictiva/diagnóstico , Medios de Contraste , Desmina , Femenino , Gadolinio , Humanos , Imagen por Resonancia Cinemagnética , Espectroscopía de Resonancia Magnética , Adulto JovenRESUMEN
AIMS: To distinguish between constrictive pericarditis (CP) and restrictive cardiomyopathy (RCM) using cardiac magnetic resonance feature tracking (CMR-FT) left ventricle (LV) diastolic time-strain curve patterns and myocardial strain. METHODS AND RESULTS: A total of 32 CP patients, 27 RCM patients, and 25 control subjects were examined by CMR-FT and analysed for global strain, segmental strain, and LV time-strain curve patterns in the longitudinal, circumferential, and radial directions. Speckle tracking echocardiography (STE) strain imaging was performed in some cases. The peak global longitudinal strain (GLS) and global circumferential strain (GCS) of the RCM group were lower than those of the CP group. GLS [median (interquartile range) CP vs. RCM: -11.15 (-12.85, -9.35) vs. -6.5 (-8.75, -4.85), P < 0.001] and GCS (CP vs. RCM: -16.89 ± 5.11 vs. -13.37 ± 5.79, P < 0.001). In circumferential and radial directions, the strain ratios of the LV lateral/septal wall (LW/SW) of the CP group were significantly lower than those of the RCM group at the basal and mid segments. The CS ratio of LW/SW at the basal segment [CP vs. RCM: 0.95 (0.85, 1.25) vs. 1.43 (1.18, 1.89), P < 0.001] and mid segment [CP vs. RCM: 1.05 (0.92, 1.15) vs. 1.18 (1.06, 1.49), P = 0.026]. The RS ratio of LW/SW at the basal segment [CP vs. RCM: 0.97 (0.76, 1.37) vs. 1.55 (1.08, 2.31), P = 0.006] and mid segment [CP vs. RCM: 0.95 (0.70, 1.28) vs. 1.79 (1.32, 2.92), P < 0.001]. In the longitudinal and circumferential directions, the characteristic 'plateau' pattern of time-strain curves could be seen in the CP but not in the RCM during the diastole. The GCS ratio of 0-50%/50-75% diastolic period of the CP was higher than that of the RCM [CP vs. RCM: 17.01 (8.67, 23.75) vs. 5.38 (1.93, 11.24), P = 0.001], while the GCS ratio of 50-75%/75-100% diastolic period was lower than that of the RCM [CP vs. RCM: 0.36 (0.15, 1.67) vs. 1.12 (0.70, 5.58), P < 0.001]. The peak GLS (sensitivity, 85%; specificity, 78%) and the GCS ratio of 0-50%/50-75% diastolic period (sensitivity, 88%; specificity, 73%) had higher differential diagnosis value. CONCLUSIONS: The CMR-FT could distinctly differentiate CP from RCM based on LV myocardial strain and LV time-strain curve patterns. The characteristic 'plateau' pattern of the time-strain curve is specific for CP and not RCM and this curve can also be duplicated by STE.