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At least 541 records · Page 30Linked to original sources
PubMed2006

Newborn infant with maternal anti-SSA antibody-induced complete heart block accompanying cardiomyopathy.

Newborn case of maternal anti-SSA antibody-induced congenital complete heart block (CCHB) accompanying cardiomyopathy is presented. Unexpectedly, she died of ventricular tachycardia, not bradycardia, 6 days after birth. Autopsy revealed left ventricular cardiomyopathy with endocardial fibroelastosis. Thus, when evaluating fetal cardiac performance in cases of maternal anti-SSA antibody-induced CCHB, it is necessary to pay attention to myocardial attributes such as endocardial hyperplasia.

Antibodies, Antinuclear↗
PubMed1985

Ultrastructural alterations in allylamine cardiovascular toxicity. Late myocardial and vascular lesions.

The late myocardial and vascular ultrastructural changes in rat hearts following consumption of the cardiovascular toxin allylamine were studied. Rats were given 0.1% allylamine HCl in drinking water for 10-104 days. From 10 to 21 days, there was organization of acute myocardial necrosis by macrophages and scattered polymorphonuclear leukocytes with prominent interstitial-cell proliferation. Alterations at 21-104 days included extensive scarring with formation of dense mature collagen with scattered fibroblasts present, grossly evident left-ventricular aneurysm, and gross and microscopic changes similar to those observed in the secondary form of endocardial fibroelastosis. Areas of scar contained highly cellular foci of smooth-muscle cells, myofibroblasts, and abundant extracellular elastin. Cardiac myocytes frequently showed markedly disorganized myofilaments, bizarrely distorted mitochondria with condensed cristae, and other severe degenerative changes. Small vessels within and adjacent to scar showed proliferation of intimal smooth-muscle cells. Endothelial lesions or recent or organized thrombi were not seen. Focal endocardial metaplasia, consisting of both chondroid and osseous tissue, was found in areas of transmural scarring, or ventricular aneurysm. Chondrocytes had the overall nuclear and cellular morphology, abundant rough endoplasmic reticulum, and surrounding lacunae typical of mature fibrocartilage. In some areas, the collagen matrix was undergoing calcification with the typical cross-banded pattern of calcifying connective tissue. Osteocytes were located in a densely calcified bone matrix and displayed characteristic cellular extensions into surrounding canaliculi. These findings indicate a severe myocardial, small-vessel, and endocardial injury during the course of chronic allylamine intoxication.

Acute Disease↗
PubMed1978

The straddling mitral valve: morphological observations and clinical implications.

The morphological features of 23 patients with straddling or overriding mitral valve are presented. Levocardia was present in 20 of 23; visceroatrial situs solitisu in 20 of 23, with 3 patients, 2 with asplenia and 1 with polysplenia, having visceral heterotaxia. A concordant D-ventricular loop was present in the 20 patients with visceroatrial situs solitus. Six of these had double outlet right ventricle; 2 had asplenia syndrome; 1 had D-transposition of the great arteries, ventricular defect and pulmonary atresia; 1 with tricuspid atresia and double outlet-outlet chamber; 1 with polysplenia syndrome; and 12 had endocardial cushion defect with marked underdevelopment of the left ventricle, and normally related great arteries. Left ventricular size was related to the amount of mitral valve (or left-sided component of a common atrioventricular valve) connected to it. In those patients in whom little effective mitral orifice was connected to the left ventricle, the left ventricle was diminutive. Endocardial fibroelastosis of the left ventricle was noted in only a single patient. Six of the 7 patients with double outlet right ventricle (including one with double outlet bulbus) had subpulmonary obstruction, and in one of these, this was related in part to the straddling mitral valve. In 1 patient with double outlet right ventricle, there was a double orifice mitral valve, and it was the accessory mitral orifice that straddled. The diagnosis of overriding mitral valve should be suspected in any patient with significant conotruncal anomalies and underdeveloped left ventricle, especially the patient with double outlet right ventricle, and in the patient with endocardial cushion defect, hypoplasia of the left ventricle, and obstructive anomalies of the aortic arch. In certain patients, selective left atriography, left ventriculography, and single and two dimensional echocardiography may be diagnostic of this condition.

Abnormalities, Multiple↗
PubMed1992

Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype.

We describe 2 Arab patients, both offspring of unrelated consanguineous matings, with unusual facial appearance, severe mental retardation, microcephaly, cortical atrophy, seizures, hypotonia, dwarfism, and recurrent infections with neutrophilia. Neutrophil motility was markedly decreased but the opsonophagocytic activity was normal. Both patients lack the red blood cell (RBC) H antigen and manifest the Bombay (hh) phenotype. Familial endocardial fibroelastosis and familial tetralogy of Fallot segregated independently in one family. The occurrence of the same syndrome in 2 unrelated families suggests that the various aspects of the disorder are the pleiotropic effects of a single mutation. Homozygosity-by-descent for a deletion involving contiguous genes may explain the findings in this syndrome. Alternatively, a mutation which involves an ubiquitous GDP fucose donor rather than the enzyme (alpha 2-L-fucosyltransferase) or its substrate (glcNAc) may account for the pleiotropic manifestations in this syndrome.

ABO Blood-Group System↗
PubMed1993

Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

Barth syndrome is an X-linked disorder characterised by cardioskeletal myopathy of variable severity usually fatal in childhood, and neutropenia. We ascertained a large pedigree with affected males in 3 generations. All affected males had dilated cardiomyopathy, with endocardial fibroelastosis (EFE) in some. The locus for Barth syndrome in this family was found to be closely linked to DXS52 (z = 2.78, theta = 0.0). The family was nonrecombinant for DXS52 in distal Xq28, but recombinant for DXS374 which maps proximal to DXS52. This localised Barth syndrome distal to DXS374, confirming a previous localisation to distal Xq28. As yet there is no evidence for genetic heterogeneity of Barth syndrome.

Cardiomyopathies↗
PubMed1990

X-chromosome monosomy in the myelin-deficient rat mutant.

We have identified three examples of female Wistar rats exhibiting the tremor and seizures characteristic of the X-linked myelin deficiency (md) mutation, which is ordinarily seen only in males. Cytogenetic study of two of these animals has shown them to have 41 chromosomes instead of the normal 42. The missing chromosome was identified as an X chromosome by G-banding analysis. These animals thus have an XO genotype comparable to that in Turner's syndrome. Anatomically, one of the animals, which was studied in detail, showed no abnormality of the uterus, and the ovaries, although somewhat smaller than normal, were histologically indistinguishable from those in a normal female rat. No evidence of endocardial fibroelastosis was detected, nor was there any anomaly of the aorta. The myelin deficiency in the central nervous system was comparable to that in hemizygous mutant male rats. XO monosomy in the Wistar rat thus has little effect on phenotype and is more comparable to that in mice than to Turner's syndrome in man. The myelin-deficient rat is useful for studies of X-chromosome monosomy since XO females can readily be identified by the neurological syndrome characteristic of the md mutation.

Animals↗
PubMed2002

Anterograde balloon valvuloplasty for the treatment of neonatal critical valvar aortic stenosis.

We report our experience with anterograde balloon valvuloplasty in 17 neonates treated between November 1996 and June 2001 for critical aortic stenosis. Patients with hypoplastic left heart syndrome were excluded. Anterograde balloon valvoplasty of the aortic valve was possible in all 17 patients. The mean peak systolic gradient prior to cardiac catheterization was 73 mm Hg (range, 30-117 mm Hg) and decreased to 37 mm Hg (range, 21-60 mm Hg) after the dilation. Aortic regurgitation after balloon valvoplasty was absent or mild in 14/17 patients, moderate in 2 patients, and severe in 1 patient. There was no mortality or echocardiographic evidence for aortic cusp perforation or mitral regurgitation associated with the procedure. Redilation was necessary in 3/17 patients. Two patients are awaiting elective Ross operation. One patient with endocardial fibroelastosis died at 11 months of age. Anterograde balloon valvoplasty can be safely and effectively performed to palliate neonates with critical aortic valve stenosis.

Aortic Valve Stenosis↗
PubMed1991

Endomyocardial biopsy in infants and children with cardiomyopathy.

We reviewed our experience of endomyocardial biopsy performed on 21 symptomatic infants and children with cardiomyopathy. Clinical congestive cardiomyopathy was noted in 18 patients, 2 had hypertrophic cardiomyopathy, and 1 a restrictive cardiomyopathy. The biopsy findings led to a diagnosis of hemochromatosis in one patient, Adriamycin cardiomyopathy in another, and lymphocytic myocarditis in a third. Five patients had features of endocardial fibroelastosis, one endomyocardial fibrosis, and a further one, a mitochrondrial abnormality. In 11 patients normal or nonspecific features were seen. There were 2 myocardial perforations, both patients being successfully resuscitated. Endomyocardial biopsy, although occasionally hazardous, may sometimes provide valuable information which may lead to a diagnosis, facilitate treatment, and be of prognostic value. Despite the low positive yield, it may still be indicated in selected patients, in view of the seriousness and often poor prognosis of this disorder: 5 of our study group subsequently died.

Adolescent↗
PubMed1993

Demonstration of Coxsackie virus RNA in formalin-fixed tissue sections from childhood myocarditis cases by in situ hybridization and the polymerase chain reaction.

This is a combined study using in situ hybridization and the polymerase chain reaction to investigate the presence of Coxsackie virus RNA in formalin-fixed tissue from cases of childhood myocarditis. Of the ten cases studied, two were positive by both methods. The virus RNA was predominantly located in areas showing an inflammatory cell infiltrate and myofibre necrosis. These findings suggest that direct lytic infection of myocytes by virus is responsible for myocarditis in these cases, rather than an autoimmune process, which has been suggested previously. The findings in one case, where the virus showed a marked sub-endocardial distribution, may have implications for the aetiology of endocardial fibroelastosis by confirming a viral tropism for this location. The techniques used in this study are easily repeatable and can be directly applied to look for viruses in a number of other diseases where a viral aetiology is suspected.

Base Sequence↗
PubMed2006

X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene.

OBJECTIVES: Mutations in the tafazzin (TAZ) gene at chromosomal locus Xq28 are responsible for Barth syndrome (BTHS), X-linked endocardial fibroelastosis (EFE), X-linked fatal infantile dilated cardiomyopathy (CMD3A), and familial isolated noncompaction of left ventricular myocardium (INVM). This evaluation was performed to determine if a known familial TAZ gene mutation might present with abnormal fetal cardiac pathology findings as early as the second trimester of pregnancy. METHODS: Prenatal diagnosis revealed that a male fetus was positive for a known familial arg94his TAZ gene mutation. An elective termination with subsequent fetal pathology examination was performed at 18 weeks' gestation. RESULTS: Fetal examination revealed cardiomegaly, EFE, and subendocardial vacuolization of the myocytes. CONCLUSION: Characteristic cardiac pathology findings of a TAZ gene mutation are seen in a fetus at 18 weeks' gestation. To our knowledge, this case provides the earliest fetal pathologic description of a TAZ cardiomyopathy.

Acyltransferases↗
PubMed2007

Fetal cardiomyopathy--in utero evaluation and clinical significance.

OBJECTIVE: To describe the prenatal diagnosis and outcome of fetal cardiomyopathy (CM). METHODS: The charts, photographs and videotapes of all fetuses with CM, who were assessed during pregnancy at two referral centers, were reviewed. RESULTS: The diagnosis of CM was established in 12 fetuses. All had structurally normal hearts, and all cases were diagnosed after 23 weeks of gestation, following normal early fetal echocardiogram. Three clusters of fetal CM appeared: Familial--two sib fetuses of a mother, who is a second generation of CM. Both had dilated CM and pathological findings were consistent with the diagnosis of endocardial fibroelastosis. Secondary--CM that was induced by another factor. Idiopathic--six cases of CM without an underlying specific etiology. Three women elected to terminate their pregnancy. Among the nine who delivered, four had a favorable outcome with normal cardiac function at the age of 1 month, in which three belonged to the secondary category, and five cases were complicated by fetal/infant death. CONCLUSIONS: CM may develop during fetal life and might be diagnosed by prenatal echocardiography. Normal cardiac findings in a midtrimester fetus do not exclude subsequent development of CM. Detailed prenatal sonographic examination may aid in determining the neonatal outcome.

Adult↗
PubMed1982

Endomyocardial biopsy in infants and children: technique; indications and results.

By modification of a miniaturized technique for transcatheter endomyocardial biopsy, it was possible to insert a bioptome through a 6 French catheter in 15 infants and children aged 40 days to 17 years and weighing 3.5 to 55kg. Eight right and 7 left ventricular biopsies were performed, and the specimens were examined by light and electron microscopy. In one child we failed to obtain a specimen. There were no complications. Diagnoses to be either proved or excluded were hypertrophic or dilated cardiomyopathy, endocardial fibroelastosis, glycogen and lipid storage disease, tumours and myocarditis. Morphological examination was diagnostic in 2 cases, helpful in 10 cases and of no help in 2 cases. by this technique it is possible to prove endomyocardial diseases with a high degree of reliability in infants and children without increasing risk or stress.

Adolescent↗
PubMed1992

Cardiomyopathy in infancy: observations in an epidemiologic study.

Cardiomyopathy (Cm), a rare form of cardiac disease in infancy, is receiving increasing attention stimulated by the availability of endocardial biopsy and new forms of therapy. Population-based information on frequency of occurrence, types, and maternal and infant characteristics of this diverse group of heart muscle disorders has been obtained in the course of an etiologic study on cardiovascular disease in infancy. The Baltimore-Washington Infant Study (BWIS) enrolled 2659 infants with heart disease and 2801 control infants between January 1, 1981 and March 31, 1987, a 6-year prevalence of 4.46/1000 live births. Fifty-six infants had cardiomyopathy, in the absence of a structural defect (prevalence 1/10,000). The cases were classified clinicopathologically as follows: dilated Cm (n = 17), hypertrophic Cm (n = 26), tumor (n = 5), endocardial fibroelastosis (n = 5), glycogen storage (n = 1), mucocutaneous lymph node syndrome (n = 1), and infarction (n = 1). Eleven syndromic associations and six metabolic disturbances indicate genetic risk factors. Some of the same syndromes occurred in other infants who had structural cardiac abnormalities. This overlap suggests that embryonic myocardial disease might sometimes be responsible for altered cardiac structures, possibly secondary to hemodynamic changes. Familial myocardial disease occurred in two infants with hypertrophic Cm. The Cm group did not differ by race and sex from controls, but the mothers were of lower educational and occupational status with less private care and with later registration for pregnancy care. The descriptive epidemiology of this population-based case group provides evidence of greater etiologic heterogeneity than has been shown in clinical reports.

Cardiomyopathies↗
PubMed1987

Absent aortic valve with normally related great arteries.

A neonate with absent aortic valve associated with membranous mitral atresia and normally related great arteries is reported. The patient was a 3360-g boy and was transferred to our hospital 4 h after birth because of severe cyanosis and respiratory distress. Absent aortic valve associated with mitral atresia was diagnosed on echocardiography. The patient died 4 days later with congestive heart failure. Postmortem examination revealed the aortic valve and sinus of Valsalva to be totally absent. The mitral valve showed membranous atresia. Severe endocardial fibroelastosis of the left ventricle, which was mildly dilated, and bizarre trabeculation were seen. This is the first case report of an absent aortic valve with normally related great arteries.

Aortic Valve↗
PubMed1990

Anatomic evidence of spontaneous intrauterine closure of a ventricular septal defect.

An infant, born to a mother on carbamazepine monotherapy, had a complex cardiac anomaly, consisting of double-outlet right ventricle (DORV), right-sided aorta, pulmonary artery hypoplasia, left ventricular endocardial fibroelastosis, and anatomic evidence of a spontaneously closed muscular ventricular septal defect (VSD). The last finding is one which, to the best of our knowledge, has never been illustrated before.

Asphyxia Neonatorum↗
PubMed1990

Endomyocardial biopsy in infants and children: experience in 60 patients.

In 60 children, aged between 1 month and 22 years (median 3.54 years) and with a body weight of 3-67 kg (median 12.6 kg), transvascular endomyocardial biopsy (EMB) was performed from the right (35 children) or left ventricle (30 children). The specimens were investigated by light and electron microscopy. There were three indications for biopsy: (1) poorly functioning, dilated left ventricle (seven patients with endocardial fibroelastosis, 16 with dilated cardiomyopathy, six from healing/healed or chronic myocarditis); (2) unexplained left ventricular hypertrophy (10 with hypertrophic cardiomyopathy, four with secondary hypertrophy, three with storage diseases); (3) to answer certain questions in eight children (four with hypoxic and two with cytoxic myocardial damage). Retrospectively, there were five nonindicated biopsies. There were no serious complications. Biopsies were diagnostic in 11.7% of cases, helpful in 71.7%, and of no help in 16.6%. Thus even in childhood endomyocardial biopsy is a diagnostic tool which can add useful information on the etiology or pathogenesis of an underlying myocardial disease.

Adolescent↗
PubMed1999

Ultrastructural features of the myocardium of children with dilated cardiomyopathy.

We analyzed the electron-microscopic features of endomyocardial biopsy from pediatric patients with dilated cardiomyopathy (DCM). The specimens examined were taken from the right ventricle of ten patients aged from 2 to 15 years (mean 9.7 years). Biopsy specimens from eight patients with congenital heart disease (tetralogy of Fallot), aged from 3 to 12 (mean 7.3 years), and ten adult patients with DCM, aged from 32 to 60 (mean 45 years), were also examined. Patients considered to have endocardial fibroelastosis, arrhythmogenic right ventricular cardiomyopathy, specific cardiomyopathy, or coronary heart disease were excluded from this study. Specimens from pediatric patients with DCM showed various degrees of ultrastructural abnormalities of myocytes, including myofibrillar fragmentation, mitochondrial abnormalities, and intracellular edema. The ultrastructurally determined contractility failure index based on the severity of myocardial degeneration at the electronmicroscopic level was 4.9 +/- 1.1. This value was significantly higher than that in patients with tetralogy of Fallot (0.9 +/- 0.6, P < 0.001) but was not significantly different from that in adult patients with DCM (6.1 +/- 2.6). The index of pediatric patients with DCM who died within 3 years was high (6.0 +/- 0.8). Basal lamina layering of a capillary (BLL) in the myocardium was revealed in 1 of the 10 (10%) pediatric patients with DCM and in 6 of the 10 (60%) adult patients with DCM (P < 0.05). No BLL was noted in the patients with tetralogy of Fallot. These findings may be related to the pathogenesis of DCM in children and adults.

Adolescent↗