共查询到20条相似文献,搜索用时 15 毫秒
1.
Spencer CT Byrne BJ Gewitz MH Wechsler SB Kao AC Gerstenfeld EP Merliss AD Carboni MP Bryant RM 《Pediatric cardiology》2005,26(5):632-637
Barth syndrome is an X-linked disorder characterized by dilated cardiomyopathy, cyclic neutropenia, skeletal myopathy, abnormal
mitochondria, and growth deficiency. The primary defect is a mutation in the TAZ gene on the X chromosome at Xq28, resulting
in abnormal phospholipid biosynthesis and cardiolipin deficiency. To date, there has been no systematic evaluation of the
cardiac phenotype. We report five cases of cardiac arrest and/or placement of an internal cardiac defibrillator with documented
ventricular arrhythmia. We suggest that ventricular arrhythmia is part of the primary phenotype of the disorder and that patients
should be screened accordingly. 相似文献
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Kapoor S Ghosh V McGrath JA Kochar AM Kapoor H Malik R 《Indian journal of pediatrics》2012,79(1):120-123
Goltz syndrome or focal dermal hypoplasia is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular,
central nervous system and soft-tissue defects. The authors report a female child clinically diagnosed as Goltz syndrome,
confirmed to have a novel splice site mutation IVS2 + 1G > A of PORCN gene. Review of the 80 or so pathogenic mutations reported
in the literature shows this to be a new mutation. 相似文献
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A case of Barth Syndrome is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The current understanding of etiology is included, including elevation of 3-methylglutaconic acid (3MGC). 相似文献
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Samuel P. Hanke Aimee B. Gardner John P. Lombardi Peter B. Manning David P. Nelson Jeffrey A. Towbin John L. Jefferies Angela Lorts 《Pediatric cardiology》2012,33(8):1430-1434
Barth syndrome (BTHS) is associated with myocardial disease, frequently left ventricular noncompaction cardiomyopathy, which may necessitate cardiac transplantation or lead to death in some patients. We report a child with BTHS who had an ??undulating cardiac phenotype?? and ultimately developed decompensated heart failure requiring mechanical circulatory support with a ventricular assist device as a bridge to transplantation. His course was complicated by acute lung injury requiring placement of an in-line oxygenator to maintain end-organ function. Not only was his course complicated by cardiac and respiratory failure but his BTHS associated comorbidities complicated the management of his therapy using mechanical assist device support. He was successfully supported and subsequently was transplanted. Here we discuss the management of a child with BTHS using mechanical circulatory support and describe the use of an in-line oxygenator, Quadrox, with the Berlin Excor device. 相似文献
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Krishnamurthy S Adhisivam B Hamilton RM Baskin B Biswal N Kumar M 《Indian journal of pediatrics》2011,78(7):866-869
The authors describe an 11-year-old girl who presented with congestive heart failure due to arrhythmogenic dilated cardiomyopathy.
She had curly, woolly hair since birth and palmoplantar keratoderma. Molecular genetic analysis of the desmoplakin gene revealed
that she was homozygous for the c.3901C>T (p.Gln1301X) change in exon 23 of the desmoplakin (DSP) gene, confirming the diagnosis
of Carvajal disease. As per the Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy Genetic Variants Database, this
is a novel mutation. She was managed with diuretics, enalapril, carvedilol and amiodarone, is presently stable, and on regular
follow-up. Carvajal disease is a rare cardiocutaneous disorder and few cases have been reported in the literature. The authors
review the published cases of the Naxos-Carvajal phenotype from India. Pediatricians need to be aware of this clinical entity
whenever arrhythmogenic dilated cardiomyopathy is associated with woolly hair and/or palmoplantar keratoderma. 相似文献
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John L. Jefferies John W. Belmont Ricardo Pignatelli Jeffrey A. Towbin William J. Craigen 《Pediatric cardiology》2010,31(1):114-116
Noonan syndrome is an autosomal dominant disease that manifests a wide variety of clinical characteristics. The syndrome is
also associated with some cardiac defects. Half of all Noonan syndrome cases are caused by mutations in the PTPN11 gene, but only limited data are available regarding aortic involvement in these cases. No reports exist regarding PTPN11 mutations in association with both aortic dilation and hypertrophic cardiomyopathy. We describe an 8-year-old girl who had
Noonan syndrome involving a PTPN11 mutation, hypertrophic cardiomyopathy, main pulmonary artery dilation, and aortic root dilation. To our knowledge, this is
the first case in which all three of these cardiovascular features have been observed in a single patient with Noonan syndrome. 相似文献
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Fanconi -Bickel Syndrome (FBS) is described as an autosomal recessive Glycogen Storage Disorder type XI. The underlying enzyme defect is unknown. The gene GLUT2 maps to 3q26.1-q26.3; encodes a facultative glucose transporter gene. A 6-y-old girl presented with the characteristic facial gestalt, glucose and galactose intolerance, proximal renal tubular dysfunction, hepatomegaly, and altered liver function. To confirm the diagnosis, mutation analysis was performed. Patient showed homozygous mutation in exon 9 of GLUT2 gene 1093 C>T, the mutation causing transition from arginine to stop codon at position 365 and causing premature termination of protein. The mutation was found to be causative as previously described. To the best of authors’ knowledge this is first Indian patient ever reported with a mutation. Genetic testing can be employed as a method of confirming diagnosis, especially where definitive mutation can be useful for prenatal diagnosis and prognostication. 相似文献
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Brendan P. Kelly Mark W. Russell James R. Hennessy Gregory J. Ensing 《Pediatric cardiology》2009,30(8):1176-1179
Hypertrophic cardiomyopathy (HCM) is a heterogeneous disorder characterized by thickening of the heart and an increased incidence
of sudden death. This study is aimed to determine the genetic cause of severe cardiac hypertrophy in an infant. An infant
was assigned a diagnosis of ventricular preexcitation and severe biventricular HCM requiring septal myectomy. Genetic testing
showed a novel heterozygous E506Q mutation of the adenosine monophosphate (AMP)-activated protein kinase (PRKAG2) gene. Endomyocardial
biopsy samples did not demonstrate significant glycogen accumulation. Hypertrophic cardiomyopathy due to PRKAG2 mutations
may have a degree of cardiac hypertrophy exceeding that expected from observed amounts of glycogen deposition. 相似文献
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Sudesh Kapur Karen S. Kuehl Frank M. Midgely Roma S. Chandra 《Fetal and pediatric pathology》1985,3(2):261-269
Cardiac involvement in Beckwith-Wiedemann syndrome is mostly limited to mild cardiomegaly. Although these patients have visceromegaly, macroglossia, gigantism, and adrenal cytomegaly, no significant myocardial changes have been described. An infant with dysmorphic features of this syndrome had supraventricular tachycardia since birth. Nodular lesions were present in the right atrium. Morphologically these lesions were composed of hypertrophic myocardial fibers admixed with multinucleated giant cells of myogenic origin. The exact nature of these lesions remains undetermined. It is postulated that hypertrophic myocardial cells may represent cardiac cytomegaly as a manifestation of the accelerated growth potential of cells seen with this syndrome. 相似文献
15.
Suvasini Sharma Rosa Torres Jiménez Satinder Aneja Marta G. Garcia Gulshan R. Sethi 《Indian journal of pediatrics》2012,79(11):1520-1522
The authors report two brothers who presented with motor delay and stiffness. The elder boy had auto-mutilation of lips and fingers. Serum uric acid was elevated in both the children. Both the boys had undetectable hypoxanthine–guanine phosphoribosyl transferase activity in hemolysate, confirming the diagnosis of Lesch-Nyhan syndrome. Molecular genetic testing revealed a new mutation in the HPRT1 gene. 相似文献
16.
Katta Mohan Girisha Abdul Mueed Bidchol Murali Keshava Sarpangala Kapaettu Satyamoorthy 《Indian journal of pediatrics》2014,81(3):302-304
The authors report on a child with Setleis syndrome (OMIM 227260). She is born to a consanguineous couple with bitemporal scar like defects resembling forceps marks. She had other classical features resembling autosomal recessive Setleis syndrome. The authors identified a novel homozygous deletion of a single nucleotide (c.91delC) in TWIST2 gene leading to the premature truncation of protein (p.R31GfsX71). Umbilical hernia and genital anomalies are being reported for the first time with this condition. This is the fourth mutation proven family of Setleis syndrome. 相似文献
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Kun-yin Qiu Xiong-yu Liao Ruo-hao Wu Ke Huang Jian-pei Fang 《Pediatric hematology and oncology》2017,34(8):428-434
X-linked hyper-immunoglobulin M (IgM) syndrome is characterized by recurrent infections, low or undetectable levels of IgG and IgA, and normal to increased serum IgM, and is also rare. It is associated with mutation in the gene encoding CD40 ligand. This study aimed to describe the first international report of hemizygous CD40LG c.542G>A mutation in a 5-year-old boy with a phenotype of Crohn's disease and hemophagocytic lymphohistiocytosis. Also, the clinical implications of this mutation and associated atypical phenotype are discussed. 相似文献