Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: UMLS:C0018799 (heart disease)
34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mutations have recently been identified in the G4.5 gene (Xq28), encoding the tafazzin protein, in patients with Barth syndrome. We performed mutational analysis in 5 families with suspected Barth syndrome. In 4 families a male child had all the cardinal features of this syndrome, and mutations of G4.5 were found in each case. A mutation was also found in a fifth family with an extensive history of early infant death from heart disease. The recognition of 5 unrelated families in 1 hospital during a 7-year period suggests that this disease may be underdiagnosed.
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PMID:Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. 1048 87

Noncompaction of the ventricular myocardium (NVM) is a rare disorder of endomyocardial morphogenesis characterized by numerous, prominent trabeculations and deep intertrabecular recesses. It is commonly associated with congenital heart disease, but the isolated form (INVM) is not associated with other structural heart diseases. Clinical reports of INVM have been limited to a few case reports and small series of pediatric patients. INVM is considered to be a form of congenital abnormal endomyocardial morphogenesis caused by abnormal cessation of the embryonic development of the ventricular myocardium; most reported cases have been pediatric patients, and autopsy cases of elderly patients have been quite rare. In the present case, an elderly female had INVM associated with severely disturbed left ventricular (LV) function and an enlarged left ventricle similar to dilated cardiomyopathy. The echocardiogram showed prominent trabeculations and deep intertrabecular recesses of the LV walls, especially in the posterior and apical areas. LV contrast echocardiography revealed markedly protruberant trabeculations, which were also observed with computed tomography. Five years later, the patient died of refractory heart failure and ventricular fibrillation. The autopsy revealed numerous excessively prominent trabeculations in the LV myocardium, with deep intertrabecular recesses containing thrombi.
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PMID:Isolated noncompaction of the left ventricular myocardium in an elderly patient. 1563 13

Fetal dysrhythmias are usually transient. Abnormal fetal rates and rhythms during labor are "functional." Fetal dysrhythmias may be associated with congenital heart disease and fetal hydrops. Bradycardia is usually related to fetal distress; supraventricular tachycardia, atrial flutter, and atrial fibrillation may be associated with severe congestive heart failure. Ventricular fibrillation is rare in the fetus and infant and is usually associated with myocardial necrosis with perimembranous septal defect; the nonbranching atrioventricular (AV) bundle may have an aberrant position and result in cardiac arrhythmia. Wolff-Parkinson-White syndrome with conduction abnormalities and left ventricular hypertrophy (LVH) is due to an accessory pathway that bypasses the AV sulcus and results in faster conduction. Carnitine deficiency may be primary or secondary and may result in cardiac arrhythmia. Histiocytoid cardiomyopathy is characterized by cardiomegaly, incessant ventricular tachycardia, and frequently sudden death. Arrhythmogenic right ventricular dysplasia (ARVD) results in ventricular tachycardia and left bundle branch block. Noncompaction of the left ventricle predisposes to potentially fatal arrhythmias. Long Q-T syndromes (LQTS) are a heterogeneous group of disorders with many genetic mutations. Brugada syndrome is an autosomal dominant trait with right bundle branch block and ST elevation. Barth syndrome is an X-linked disorder with dilated cardiomyopathy, cyclic neutropenia and skeletal myopathy. Hypertrophic cardiomyopathy in infancy may be related to metabolic diseases, particularly glycogen storage diseases; the familial form predisposes to sudden death. Arrhythmias following cardiac surgery may occur after closure of a ventricular septal defect (VSD) or damage to the conduction system.
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PMID:Pathogenesis of cardiac conduction disorders in children genetic and histopathologic aspects. 1696 59

Barth syndrome (BTHS) is an X-linked recessive multisystem disorder caused by mutations in the TAZ gene (TAZ, G 4.5, OMIM 300394) that encodes for the acyltransferase tafazzin. This protein is highly expressed in the heart and plays a significant role in cardiolipin biosynthesis. Heart disease is the major clinical manifestation of BTHS with a high incidence in early life. Although the genetic basis of BTHS and tetralinoleoyl cardiolipin deficiency in BTHS-affected individuals are well-established, downstream metabolic changes in cardiac metabolism are still uncovered. Our study aimed to characterize TAZ-induced metabolic perturbations in the heart. Control (PGP1-TAZ^WT) and TAZ mutant (PGP1-TAZ^517delG) iPS-CM were incubated with ¹³C₆-glucose and ¹³C_5-glutamine and incorporation of ¹³C into downstream Krebs cycle intermediates was traced. Our data reveal that TAZ^517delG induces accumulation of cellular long chain acylcarnitines and overexpression of fatty acid binding protein (FABP4). We also demonstrate that TAZ^517delG induces metabolic alterations in pathways related to energy production as reflected by high glucose uptake, an increase in glycolytic lactate production and a decrease in palmitate uptake. Moreover, despite mitochondrial dysfunction, in the absence of glucose and fatty acids, TAZ^517delG-iPS-CM can use glutamine as a carbon source to replenish the Krebs cycle.
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PMID:Barth Syndrome: Exploring Cardiac Metabolism with Induced Pluripotent Stem Cell-Derived Cardiomyocytes. 3186 Nov 2

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