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At least 595 records · Page 33Linked to original sources
PubMed1999

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).

X-linked cardioskeletal myopathy, neutropenia and abnormal mitochondria (MIM 302060) (synonyms: Barth syndrome, 3-methylglutaconic acid-uria type II, endocardial fibroelastosis type 2) has been reported in patients and families from Europe, North America and Australia. Previous studies characterized the main components of the disease: dilated cardiomyopathy, skeletal myopathy, neutropenia, 3-methylglutaconic aciduria and diminished statural growth. Respiratory chain impairments have been found in several studies, without pinpointing a single enzyme complex. 3-Methylglutaconic aciduria is shared with several other disorders that affect the respiratory chain. Previous studies excluded a block in the major pathway of leucine catabolism. We performed leucine loading, accompanied by fasting, in patients and observed a significant rise of 3-methylglutaconic acid and 3-methylglutaric acid. Taken together with the absence of an enzymatic block in the major leucine catabolic route, the possibility remains that the increased basal excretion of 3-methylglutaconic acid and other products of branched-chain amino acids is the result of overload of this pathway or--more likely--mitochondrial leakage. Linkage studies have localized the gene to the Xq28 region. The associated tafazzin gene (TAZ), has been fully characterized recently, and mutations located in conserved regions have been reported. Carrier detection and prenatal diagnosis have now become possible through mutation analysis. Sequence homology of the TAZ gene to a highly conserved superclass of acyltransferases (Neuwald's hypothesis) predicts a glycerophospholipid as the missing end product. This points to the (lipid) structure of the inner mitochondrial membrane as a promising new area of research.

Cardiomyopathy, Dilated↗
PubMed2001

Heart transplantation in children and infants: short-term outcome and long-term follow-up.

Since 1988, 82 heart transplants have been performed in 80 infants and children. Diagnoses pretransplant were: hypoplastic left heart syndrome (HLHS) (n = 43); cardiomyopathy (n = 19); endocardial fibroelastosis (n = 6); and other complex congenital heart diseases (n = 12). Age at transplantation was < 1 yr in 61 patients. Overall survival rate was 79% at 1 yr and 73% at 5 and 10 yr. To date, 20 patients have died after transplantation. Causes of death were: rejection (eight patients); right ventricular failure (four patients); transplant coronary artery disease (TCAD) (two patients); and other causes (six patients). In the majority of patients somatic growth is not impaired, and renal function is reduced (but stable) in all patients. Two patients developed post-transplant lymphoproliferative disease, which was treated successfully. Major long-term morbidity is neurologic deficit - severe in three patients and minor in six. TCAD was present or suspected in six surviving patients. We conclude that heart transplantation in infants and children can be performed with good early and late results. Quality of life is excellent in most patients. TCAD, however, will become an increasing problem in the long term.

Child↗
PubMed2001

The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy.

Mitochondrial DNA (mtDNA) mutations have been causally linked with cardiomyopathies, both dilated (DCM) and hypertrophic. We identified the T12297C mutation in the mtDNA-tRNA(Leu(CUN)) of a 36-year-old male patient diagnosed with DCM. The mutation was heteroplasmic, with high amount (88%) of mutant DNA in the myocardium, and was absent in normal (n = 120) and disease (n = 150) controls. It affects a highly conserved nucleotide (adjacent to the anticodon triplet) that allows the phospho-ribose backbone to turn and form the loop. The potential pathological role of T12297C mutation is further supported by its recent identification in another unrelated Italian family with DCM associated with endocardial fibroelastosis. In the variable loop of the same tRNA, our patient also carried the A12308G transition that is debated as pathological mutation or neutral polymorphism in progressive external ophthalmoplegia: the two defects could exert a synergistic effect on the tRNA structure and function. The endomyocardial biopsy study showed abnormal ring-like mitochondria and occasional cytochrome c oxydase negative myocytes. Overall, the heteroplasmy, the highly conserved position of the mutated nucleotide, the absence of the mutation in large series of diseased and normal controls, and the cardiac mitochondrial changes support a causative link of the mutation with the disease.

Adult↗
PubMed2000

Prenatal therapy of non-immunologic hydrops fetalis caused by severe aortic stenosis.

Congenital aortic stenosis is a rare cause of congestive heart failure and hydrops fetalis. This report describes a case of prenatally diagnosed critical aortic stenosis and endocardial fibroelastosis leading to a severe hydrops fetalis at 27 weeks of gestation. Successful transplacental digitalization was performed and all signs of hydrops resolved within 2 weeks. The pregnancy continued with normal development of the fetus and birth was induced at 39 weeks of gestation. After an uneventful vaginal birth, the child was transferred for cardiac catheterization, and balloon dilation of the aortic valve was performed successfully. Follow up at the age of 2 years showed only mild left ventricular cardiac hypertrophy, a moderate elevated pressure gradient of 50 mmHg at the aortic valve and mild aortic and mitral regurgitation. No further interventions were necessary at this point.

Adult↗
PubMed1978

Lactic acidosis associated with cerebellar vermal atrophy and cardiomyopathy.

The association of fluctuating neurological signs and congestive cardiomyopathy with chronic lactic acidosis is described in a 5 1/2 year-old-boy who ultimately succumbed to congestive heart failure. The autopsy findings included severe atrophy of the anterior cerebellar vermis and a hypertrophied heart with left sided endocardial fibroelastosis. Skeletal and cardial muscle calcification was prominent and probably due to the effect of intracellular metabolic alterations associated with lactic acidosis. A review of the literature shows that the combination of cardiomyopathy, isolated atrophy of cerebellar vermis and muscle fiber calcification have not been reported in association with idiopathic lactic acidosis previously.

Acidosis↗
PubMedDate not supplied

[Cardiomyopathies in childhood].

Primary cardiomyopathies are heart muscle diseases of unknown cause. In hypertrophic cardiomyopathy (HCM) a hypertrophy of unknown aetiology results either in asymmetric septal hypertrophy (mostly with obstruction) or in concentric hypertrophy of the left ventricle (mostly without obstruction). This condition is rare in childhood, partly inherited and sometimes observed already in newborns. Sudden cardiac death is a main complication in the second decade. In non-obstructive HCM endomyocardial biopsy is the tool to differentiate secondary forms. Dilated cardiomyopathy is recognized by aetiologically unclear dilatation of left or right or both ventricles. In childhood this condition has to be differentiated from coronary anomalies, endocardial fibroelastosis, and myocarditis. Also rare secondary forms have to be considered because of possible therapeutic consequences. From the very few histologically proven reports a reliable prognosis for this disease in childhood cannot be deduced.

Cardiomyopathies↗
PubMed2001

Critical aortic stenosis in the neonate: a multi-institutional study of management, outcomes, and risk factors. Congenital Heart Surgeons Society.

OBJECTIVES: We sought to determine factors that would predict whether a biventricular repair or Norwood procedure pathway would give the best survival in neonates with critical aortic stenosis. METHODS: Survival and risk factors were determined with parametric time-dependent event analysis for patients undergoing either the Norwood procedure or biventricular repair, and predicted optimal pathway and survival benefit were derived from multivariable linear regression. RESULTS: From 1994 to 2000, 320 neonates with critical left ventricular outflow obstruction were entered into a prospective multi-institutional study. Patients who died without intervention (n = 19) and those with primary cardiac transplantation (n = 6) were excluded. An initial intended biventricular repair pathway was indicated in 116 patients, with survival of 70% at 5 years. An initial Norwood procedure was performed in 179 patients, with survival of 60% at 5 years. Using predictions from separate multivariable hazard models for survival with each of the 2 pathways, we determined predicted optimal pathway and survival benefit for each patient. Significant independent factors associated with greater survival benefit for the Norwood procedure versus biventricular repair included younger age at entry, lower z-score of the aortic valve and left ventricular length, higher grade of endocardial fibroelastosis, absence of important tricuspid regurgitation, and larger ascending aorta. Predicted survival benefit favored the Norwood procedure in 50% of patients who had biventricular repair, and it favored biventricular repair in 20% of patients who had the Norwood procedure. CONCLUSIONS: Morphologic and functional factors can be used to predict optimal pathway and survival benefit in neonates with critical left ventricular outflow obstruction.

Aortic Valve Stenosis↗
PubMedDate not supplied

Cardiovascular causes for sudden infant death.

Although sudden infant death syndrome (SIDS) is a cause for sudden infant death, other causes should be ruled out before diagnosing SIDS. Cardiac causes for sudden infant death include viral myocarditis, congential heart disease particularly congential aortic stenosis, endocardial fibroelastosis, and anomalous origin of the left coronary artery from the pulmonary artery. Other cardiac conditions that may result in sudden death include rhabdomyomas of the heart in tuberous sclerosis and conduction system disorders. The most frequent conduction system disorders resulting in sudden death include histiocytoid cardiomyopathy, congential heart block that may be associated with maternal lupus erythematosus, arrhythmogenic right ventricular dysplasia, noncompaction of the left ventricle, and long QT syndromes.

Arrhythmias, Cardiac↗
PubMed1997

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

Barth syndrome (BTHS) is an X-linked disorder characterized clinically by the associated features of cardiac and skeletal myopathy, short stature, and neutropenia. The clinical manifestations of the disease are, in general, quite variable, but cardiac failure as a consequence of cardiac dilatation and hypertrophy is a constant finding and is the most common cause of death in the first months of life. X-linked cardiomyopathies with clinical manifestations similar to BTHS have been reported, and it has been proposed that they may be allelic. We have recently identified the gene responsible for BTHS, in one of the Xq28 genes, G4.5. In this paper we report the sequence analysis of 11 additional familial cases: 8 were diagnosed as possibly affected with BTHS, and 3 were affected with X-linked dilated cardiomyopathies. Mutations in the G4.5 gene were found in nine of the patients analyzed. The molecular studies have linked together what were formerly considered different conditions and have shown that the G4.5 gene is responsible for BTHS (OMIM 302060), X-linked endocardial fibroelastosis (OMIM 305300), and severe X-linked cardiomyopathy (OMIM 300069). Our results also suggest that very severe phenotypes may be associated with null mutations in the gene, whereas mutations in alternative portions or missense mutations may give a "less severe" phenotype.

Abnormalities, Multiple↗
PubMed1987

Dilated cardiomyopathy in childhood: problems of diagnosis and long-term follow-up.

Clinical profile and course of 13 infants and children (median age 2 years, range 2 months to 17 years) with dilated cardiomyopathy are presented. Endocardial fibroelastosis and myocarditis were excluded by transvascular endomyocardial biopsy. Elevated cardio-thoracic ratio (mean 0.67), depressed fractional shortening (mean 13%) and cardiac index (mean 2.52 l min-1 m-2) were the indicators of congestive heart failure. During a mean follow-up of 41 months (range 6 to 204 months) five patients died, four remained in a stable condition, four improved. The main complications were rhythm disturbances (23%) and thrombus formation (15%). We could not identify any predictors of survival.

Adolescent↗
PubMed2006

Heart involvement in systemic lupus erythematosus, anti-phospholipid syndrome and neonatal lupus.

Cardiac involvement is one of the main complications substantially contributing to the morbidity and mortality of patients suffering from systemic autoimmune diseases. All the anatomical heart structures can be affected, and multiple pathogenic mechanisms have been reported. Non-organ-specific autoantibodies have been implicated in immune complex formation and deposition as the initial triggers for inflammatory processes responsible for Libman-Sacks verrucous endocarditis, myocarditis and pericarditis. Anti-phospholipid antibodies have been associated with thrombotic events in coronary arteries, heart valve involvement and intra-myocardial vasculopathy in the context of primary and secondary anti-phospholipid syndrome. Antibodies-SSA/Ro and anti-SSB/La antigens play a major pathogenic role in affecting the heart conduction tissue leading to the electrocardiographic abnormalities of the neonatal lupus syndrome and have been closely associated with endocardial fibroelastosis.

Antibodies, Antiphospholipid↗
PubMed1987

Long-term evaluation of aortic valvotomy for congenital aortic stenosis.

Aortic valvotomy (AV) for relief of congenital aortic stenosis (AS) is a palliative operation, and the purpose of this study was to determine the long-term benefit. After analyzing the symptoms at time of operation, 177 patients were separated by age at AV: newborns (1-14 days) 26, infants (2 weeks-1 year) 19, and children (greater than or equal to 1 year) 132. The newborn with critical AS typically presents with severe cardiac failure and the infant with moderate failure, whereas children may be asymptomatic. In the newborn group, final diagnosis has been made exclusively by noninvasive cardiac echogram since 1984. The presence of a hypoplastic left ventricle (HLV) and/or endocardial fibroelastosis (EFE) are the most important determinants of mortality. Operative survival was 11 of 13 (85%) in the newborn group if HLV/EFE were not present. No operative deaths for AV occurred after 1965 in children. When present, a preoperative electrocardiographic strain pattern resolved in 80% of patients. Of 33 reoperations (21%), four were required 1.0 (0.5-2) years later for newborns, five were required for infants 7.2 (1.5-20) years later, and 24 were required in children 11.0 (1.5-25) years later. These included 10 repeat valvotomies and 23 aortic valve replacements (AVRs) with a 91% survival rate. In summary, although valves of patients with congenital AS are morphologically abnormal, valvotomy is beneficial. It was found that (1) the operative survival rate has been 100% over the past 20 years for children and currently is greater than 80% in newborns in the absence of HLV/EFE; (2) reoperation rate is higher in newborns and infants; (3) benefit was shown by a sharp decrease in obstruction initially and improved ECG later; (4) long-term follow-up revealed a subset of patients who are asymptomatic and have only mild residual obstruction over 20 years after AV.

Actuarial Analysis↗
PubMed2003

Neonatal lupus syndromes.

The neonatal lupus syndromes, although quite rare, provide an excellent opportunity to examine disease from bench to bedside. During the past year numerous publications have reported basic and clinical research. Although anti-SSA/Ro-SSB/La antibodies are detected in more than 85% of mothers whose fetuses are identified with conduction abnormalities in a structurally normal heart, when clinicians applied this testing to their pregnant patients, the risk for a woman with the candidate antibodies to have a child with congenital heart block was at or below one in 50. Although the precise pathogenic mechanism of antibody-mediated injury remains unknown, it is clear that the antibodies alone are insufficient to cause disease, and fetal factors are likely contributory. In vivo and in vitro evidence supports a pathologic cascade involving apoptosis of cardiocytes, surface translocation of Ro and La antigens, binding of maternal autoantibodies, secretion of profibrosing factors from the scavenging macrophages, and transdifferentiation of cardiac fibroblasts to a myofibroblast scarring phenotype. Cross-reactivity of anti-52-kD SSA/Ro antibodies with a serotoninergic cardiac receptor, 5-hydroxytryptamine (HT)4, has been suggested but remains unconfirmed. The spectrum of cardiac abnormalities continues to grow, with varying degrees of block identified in utero and reports of late-onset cardiomyopathy (some of which display endocardial fibroelastosis). Moreover, there is now clear documentation that incomplete blocks (including those improving in utero with dexamethasone) can progress postnatally, despite the clearance of the maternal antibodies from the neonatal circulation. Better echocardiographic measurements that identify first-degree block in utero may be the optimal means of approaching pregnant women at risk. Prophylactic therapies, including treatment with intravenous immunoglobulin, await larger trials. Reassuringly, most children with neonatal lupus syndromes do not develop rheumatic diseases, although follow-up is limited to late adolescence. To further efforts both at the bench and bedside, national research registries established in the United States and Canada are critical.

Adult↗
PubMed1988

Cardiomyopathies of infancy.

Cardiomyopathies in infancy constitute an ill-defined group of conditions. Recently, however, a number of specific disorders of metabolism and mitochondrial abnormalities have been described. Idiopathic or primary cardiomyopathies remain poorly defined. Endocardial fibroelastosis, the most prominent member in this group, probably represents a reaction of the endocardium to various insults. The different types of cardiomyopathy (CM) present a similar clinical picture and require the expertise of a group of specialists for proper diagnosis. Therapy is mostly supportive, as only a few cases of CM are amenable to specific treatment. Orthopic cardiac transplantation may become a therapeutic option in the future for infants unresponsive to current therapy.

Biopsy↗
PubMedDate not supplied

Pediatric assist with the Medos and Excor systems in small children.

Pediatric long-term ventricular support with paracorporeal assist devices is performed in only a few institutions. We report on our experience with two pediatric paracorporeal devices, which have been implanted in neonates, infants, and small children. Seven children with ages ranging from 2 weeks to 6 years and a body weight of 3 to 19 kg were provided with either a Medos or a BerlinHeart System. The underlying heart diseases included dilative cardiomyopathy (n = 3), endocardial fibroelastosis (n = 2), Ebstein anomaly, and status post redo aortic valve replacement (n = 1). All children were in New York Heart Association class IV and were inotrope dependent. Three children were provided with a Medos system and 4 children with a BerlinHeart Excor device. In 6 cases, left ventricular support, and in 1 case, right ventricular support was performed. All patients were stabilized with univentricular mechanical support. The perioperative course was uneventful, and end-organ function was well recovered. Reexploration for bleeding and evacuation of mediastinal blood clots was necessary in all three neonates but not in any of the older infants. Severe thromboembolic events were only noticed in the neonates. Successful bridge to transplantation was performed in 6 of the 7 patients (87.5%). Our late results have been quite encouraging, as they readily prove that pediatric long-term mechanical support is possible with a high quality of life and an acceptable low complication rate.

Cardiac Output, Low↗
PubMedDate not supplied

Magnetic resonance imaging diagnosis of carcinoid heart disease.

Carcinoid tumors are associated with the production of a number of bioactive substances that might deposit on the endocardium (endocardial fibroelastosis) and produce cardiac failure. Carcinoid heart disease usually presents as right-sided valvular heart disease. Even if the diagnosis is frequently made by transthoracic echocardiography, cardiac magnetic resonance imaging adds valuable information when evaluating cardiac structures that might be difficult to analyze on echocardiography.

Adult↗
PubMed2004

Perioperative management in pediatric heart transplantation from 1988 to 2001: anesthetic experience in a single center.

Pediatric cardiac transplantation is currently an accepted option for end-stage heart disease and congenital cardiac malformations. This report focuses on the anesthetic perioperative management in 12 yr. From 1988 to 2001 we performed 90 heart transplantations in 88 children, infants and neonates. The pediatric heart transplant program of the children's heart center at our university hospital started in June 1988 with the transplantation of a 2-yr-old boy who was suffering from congenital heart disease. Since then, 88 transplants have been performed. We divided our patients into two groups. Group 1 ranged from 1988 to 1996 and Group 2 from 1997 to 2001. The patient characteristics have not significantly changed over the years in our institution. At the time of transplantation, mean age of the patients was 2.6 +/- 4.3 yr from the period of 1988-1996 and 2.5 +/- 4.1 yr from 1997 to 2001. Since 1988, 90 transplants (Tx) in 88 patients have been performed. Two patients needed re-Tx within 2 days after the initial operation because of primary graft failure. Indications for Tx were congenital heart disease (n = 67) and cardiomyopathy (n = 21). In the subgroup of the patients suffering from congenital heart disease there were 46 with the diagnosis of HLHS, followed by endocardial fibroelastosis (n = 7); the remaining 14 patients had other complex cardiac malformations and some underwent corrective palliative cardiac surgery before Tx. Sixty-three patients were younger than 1 yr of age and only five children were older than 10 yr. Twenty-three percent of the patients on the waiting list died before Tx was possible. The overall survival rate was 79% at 1 yr and 73% at 5 and 10 yr. Infants with HLHS had a lower probability of survival after 5 yr compared with other diagnosis (69% vs. 84%). Until now 21 patients have died after Tx. The duration of anesthesia, time of CPB and the age at the time of surgery decreased over the years. It is always a challenge for the anesthesiologist to treat these patients with pulmonary hypertension as one of the most critical risks in this group of patients. The preventive therapy with vasodilators as well as the availability of mechanical assist devices before and after heart transplantation reduces the effects of transitional pulmonary hypertension and prevents the development of post-operative right heart failure.

Anesthesia↗
PubMed2004

Etiology and outcome of fetuses with functional heart disease.

BACKGROUND: The aim of this study was to assess the etiology and outcome of fetuses with functional heart disease as detected by echocardiography. METHODS: In total, 51 fetuses (median gestation age of 28.6 weeks) were included. The inclusion criteria were hydrops (n = 14), pericardial effusion (PE; n = 9), tricuspid valve regurgitation (TR; n = 8), hypertrophic cardiomyopathy (HCM; n = 7) and dilated cardiomyopathy (DCM; n = 7). Antenatal management was performed for 17 of 51 fetuses (33%): two abortions, nine digoxin administrations, three thoracocenteses, one pericardial puncture, one blood transfusion and one ascites centesis. RESULTS: The etiology of functional heart disease was twin pregnancy in 18, fetal lung lesions in five, maternal diabetes in five, fetal anemia in four, extracardiac or chromosomal abnormalities in three, infection in three, teratoma or arteriovenous malformation in four, indomethacin administration in two, endocardial fibroelastosis in two, maternal anaphylaxia in one, idiopathic arterial calcification of infancy (IACI) in one, pregnancy-induced hypertension (PIH) in one, and unknown in two fetuses. There was no significant difference between fetuses with and without treatment (53% vs. 79%; p = 0.06). There were two stillbirths and 12 postnatal deaths (29%). Among 35 surviving infants, 85% were free of symptoms in the follow-up (mean 3.9 years). CONCLUSIONS: These findings indicate that a functional heart disease in utero is associated with very varying etiology and high mortality. Improved understanding of the hemodynamic findings may lead to treatment that is more successful.

Adult↗