China
Africa
Explore chapters and articles related to this topic
Cardiac Hypertrophy, Heart Failure and Cardiomyopathy
Published in Mary N. Sheppard, Practical Cardiovascular Pathology, 2022
Histiocytoid cardiomyopathy (HC), which was initially described in 1962, has in the past had various names, including infantile xanthomatous cardiomyopathy, lipid cardiomyopathy, oncocytic cardiomyopathy, infantile cardiomyopathy with histiocytoid change, and foamy myocardial transformation of infancy emphasizing the confusion over its aetiology. Histiocytoid cardiomyopathy is a rare genetic cardiac disorder of infancy or childhood, predominantly affecting girls, and clinically manifesting as severe cardiac arrhythmias or DCM with HF. The arrhythmias are Wolff-Parkinson-White syndrome, ventricular tachycardia or ventricular fibrillation with cardiac arrest and SCD. It may also be associated with left ventricular hypertrabeculation/noncompaction. Rarely, HC may present with endocardial fibroelastosis. Extracardiac manifestations include abnormalities of the CNS (hydrocephalus), the eyes (corneal opacities, retinal hypoplasia, microphthalmia), the endocrine system (oncocytic cells in various glands), or steatosis of the liver, emphasizing its systemic nature. Autosomal recessive X-linked, and maternal inheritance has been described. Previously, HC was regarded as a developmental anomaly of the atrioventricular conduction system, called multifocal tumour of Purkinje cells, or as a developmental arrest of cardiomyocytes with aggregations of hamartoma-like cardiomyocytes, resembling oncocytes. Now HC is considered as a cardiac manifestation of a mitochondrial disorder, justifying its classification as a primary genetic mitochondrial cardiomyopathy according to the classification proposed by the AHA.
Hurler disease/mucopolysaccharidosis type IH (MPSIH)/α-L-iduronidase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Cardiac complications are prominent late features of the disease and often represent the cause of death. Some patients have been reported in whom acute cardiomyopathy and endocardial fibroelastosis were evident in the first year of life [16, 17]. These are infantile cardiac manifestations. Later cardiac disease is valvular; murmurs, aortic regurgitation, and mitral or tricuspid atresia result from storage of mucopolysaccharide in the valves. These features lead to congestive cardiac failure. Thickening of the valves of the coronary arteries leads to angina pectoris and myocardial infarction. Coronary angiography may underestimate the degree of involvement [18]. Endothelial dysfunction and reduced activity of nitric oxide synthase has been documented by peripheral artery tonometry [19]. Immunohistochemical staining study of coronary arteries stenotic, as a consequence of myointimal proliferation, displayed hyperactive transforming growth factor-beta (TGF-β) [20]. TGF-β has been related to pathogenesis of cardiovascular disease including hypertrophic cardiomyopathy. These observations could lead to a new therapeutic approach with agents which lead to suppression of TGF-β signal.
The cardiovascular system
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
Mary N Sheppard, C. Simon Herrington
Idiopathic restrictive cardiomyopathy is a poorly recognized entity characterized by non-dilated, non-hypertrophied ventricles with diastolic dysfunction resulting in dilated atria and variable systolic function. There are two main subtypes. In endomyocardial fibrosis, there is fibrosis in the subendocardium. In endocardial fibroelastosis, which affects children, a diffuse layer of dense white fibrous tissue, composed mainly of elastic fibres, lines the cardiac chambers. It can be associated with congenital heart disease, especially mitral and aortic stenosis with left ventricular hypoplasia. It seems likely that fibroelastosis simply represents a reaction to other heart diseases in early childhood and is not a separate entity.
Fetal hydrops – a review and a clinical approach to identifying the cause
Published in Expert Opinion on Orphan Drugs, 2020
Esther Dempsey, Tessa Homfray, John M Simpson, Steve Jeffery, Sahar Mansour, Pia Ostergaard
Barth Syndrome is an X-linked disorder of mitochondrial function and stability caused by mutations in TAZ [85]. Clinically the condition results in a dilated cardiomyopathy with endocardial fibroelastosis, which can lead to hydrops antenatally [86]. On fetal echocardiography, crypts are characteristically seen in the apex and free wall [82]. Those that survive may show growth retardation, proximal skeletal myopathy, neutropenia and organic aciduria [85,87].
Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!
Published in Fetal and Pediatric Pathology, 2023
Priya Ranganath, Vineeth VS, Ikromi Rungsung, Ashwin Dalal, Shagun Aggarwal
Qiao F et al. reported two families with homozygous PLD1 variants in a series of 360 fetuses with cardiac anomalies interrogated using chromosomal microarray and exome sequencing. The cardiac lesions were a combination of endocardial fibroelastosis in the left ventricle, aortic atresia, pulmonary stenosis, and mitral regurgitation [6].
Anti-Ro52 antibody level is an important marker of fetal congenital heart block risk in anti-Ro/SSA antibody positive pregnancy
Published in Modern Rheumatology, 2018
Mai Miyasato-Isoda, Masako Waguri, Yuko Yamada, Akira Miyano, Yoshinao Wada
The histopathology of autoimmune CHB includes fibrosis, calcification and infiltration of macrophages and giant cells into the atrioventricular node [28]. The injury goes beyond the conduction system, resulting in endocardial fibroelastosis and dilated cardiomyopathy. As a strategy for inhibiting inflammatory responses, corticosteroids have been used for both prevention and treatment of fetal CHB. Administration of fluorinated steroids, such as dexamethasone and betamethasone which are not inactivated by placenta and are thus bioavailable to fetus, to the mother has been attempted to prevent disease progression from incomplete heart block and to reduce infant mortality [29,30], but the efficacy especially in improving outcomes, does not appear to be promising [31]. In addition, starting fluorinated steroids in the first trimester or early in the second trimester produces various adverse effects such as growth restriction, long-term neurodevelopmental impairments, oligohydraminios, maternal hypertension and glucose-intolerance [30,32–34]. Regarding prevention of the development of CHB, on the other hand, fluorinated or non-fluorinated corticosteroids before or early in pregnancy were suggested to suppress the occurrence of CHB in retrospective studies [15,16,18]. For example, a multi-institutional study conducted by Tsuboi et al., which included some of the cases in the present study, identified the use of corticosteroids (equivalent doses of prednisolone, ≥10 mg/day) after conception but before 16 gestational weeks to be an independent protective factor against fetal CHB [18]. A majority of the cases received prednisolone. Similarly, in a study by Anami et al., CHB did not occur in 25 women who belonged to a high-risk (anti-Ro/SSA antibody titer ≥1:32) group and were treated with prednisolone (2.5–12.5 mg/day) at 12–20 gestational weeks, whereas 12 CHB-affected infants were born to 42 women not receiving this regimen [15]. In the present study, administration of corticosteroids starting before 18 gestational weeks was an independent factor predicting an uneventful outcome, and all the women receiving ≥10 mg/day of prednisolone (n = 63) in the high-risk (anti-Ro52 antibody ≥102.8 index) did not have a baby with CHB.