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)

This study describes clinical signs and symptoms in 16 patients with the DiGeorge syndrome (DGS). Diagnosed on the basis of typical facial stigmata, a broad spectrum of severity is seen with respect to congenital heart disease, hypoparathyroidism and immunologic parameters. A simple index of severity is introduced that clearly differentiates complete forms of the syndrome (cDGS) with poor prognosis from partial forms of the syndrome (pDGS). Of 13 pDGS patients, 12 are still living; 8 underwent corrective heart surgery without infectious complications. Moderate to severe mental retardation is seen in all pDGS patients. Due to the lack of thymus function, immunodeficiency is a result of cDGS, whereas immunoregulatory disturbances (hypergammaglobulinaemia, high titres of specific antibody production) prevail in pDGS patients.
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PMID:The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome. 304 96

In this paper, the authors present the case of hypocalcemic cardiopathy observed in a female patient who underwent thyroidectomy which was complicated post-operatively by the development of hypoparathyroidism. Two attacks of heart failure experienced by this patient were improved by the administration of calcium in combination with digitalis treatment. A study of cases published in the medical literature reveals that this condition is a rare cause of heart failure which develops only in the course of chronic hypocalcemia, with few neuromuscular clinical manifestations. The dual negative inotropic and hypovolemic effects caused by hypocalcemia explain the efficacy observed with the administration of calcium therapy, while the usual symptomatic treatment of this condition is inadequate.
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PMID:[A rare cause of heart failure: hypocalcemic cardiopathy]. 366 82

The DiGeorge syndrome, a variable complex of thymic aplasia, congenital heart disease, hypoparathyroidism, and anomalies of the face and neck, is thought to result from exposure to teratogenic agents. A group of congenital defects closely resembling this syndrome can be produced in newborn rats by the administration of the fat-soluble zinc chelating agent WIN 18,446, a bis-dichloroacetylamine. This drug, nontoxic to adult animals, is a powerful teratogen when administered to pregnant rats during days 9-12 of the 21-day gestation period. Our animal data suggest that the human syndrome results from exposure in utero to agents like WIN 18,446, which damage the fetus during a critical period of organogenesis.
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PMID:Chemically induced congenital thymic dysgenesis in the rat: a model of the DiGeorge syndrome. 687 57

Little attention has been given to the question whether clinical heart failure can be a manifestation of hypocalcemia. A patient with hypoparathyroidism and heart failure prompted us to analyse the reports on this subject. The conclusion was that if associated with an underlying myocardial disease, hypocalcemia may be a rare contributing factor to hear failure. Hypocalcemic heart failure without coexisting heart disease has been suggested as a cause of hypotension in two special situations in which a sudden fall of serum ionized calcium is induced: massive transfusions of citrated blood and rapid correction of uremic acidosis. In addition to hypocalcemia and heart failure, our patient had exceptional repolarization disturbances: rate-dependent variation of T wave amplitudes during sinus arrhythmia and unexpected prolongations of the Q-T interval with attacks of ventricular tachycardia.
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PMID:A case of hypocalcemia, heart failure and exceptional repolarization disturbances. 743 43

Elevated serum levels of creatine phosphokinase (CPK) and lactate dehydrogenase (LDH) are generally present in cases of muscle or heart disease, though there are some exceptions. We treated a 56-year-old man diagnosed as suffering from primary idiopathic hypoparathyroidism (PIHP). The neurologic examination was normal, but serum levels of CPK and LDH, and especially isoenzymes of striated muscle, were elevated. Elevated levels of these enzymes in PIHP are rare. In this case they most probably leaked from muscle into the blood circulation after changes in the muscle cell membrane due to hypocalcemia.
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PMID:[Serum striated muscle enzymes in autoimmune hypoparathyroidism]. 825 99

A submicroscopic deletion of chromosome 22q11 was demonstrated in three triplets and in their father. Two children had the typical DiGeorge sequence with at least three of the four cardinal features: conotruncal heart disease, hypoplastic thymus and typical facial features. Hypoparathyroidism was present in one of them. The third child had features of both DiGeorge and velo-cardio-facial syndrome (VCFS). The father presented with features compatible with VCFS. This observation further illustrates the wide variability in expression of a submicroscopic deletion of 22q11, even within one family.
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PMID:Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion. 918 46

The DiGeorge syndrome (DGS) is a developmental defect of the third and fourth pharyngeal pouches, which is associated with congenital heart defects, hypoparathyroidism, cell-mediated immunodeficiency, velo-pharyngeal insufficiency and craniofacial dysmorphism. The aetiological factor in a great majority of DGS cases is monosomy for the chromosomal region 22q11. To analyze DGS at the molecular level, a new molecular probe (DGCR680) encompassing the ADU balanced translocation breakpoint was prepared. When 13 Korean patients with DGS-type congenital heart disease were analyzed with this probe, 9 turned out to have a deletion at this locus, and all of them except one exhibited a typical facial dysmorphism associated DGS. Though only 9 independent patients were detected to have a deletion at the locus using the commercial probe N25 (D22S75), which maps at about 160 kb from the ADU breakpoint to the telomeric end, results from fluorescence in situ hybridization revealed a deletion in all cases tested at this locus. Two patients who had a deletion at the locus D22S75 but not at DGCR680 did not exhibit any DGS-type facial abnormalities. This result implies that the 680 bp probe covering the ADU translocation breakpoint might be a candidate for a molecular marker that can distinguish a specific phenotype, such as facial features associated with the DiGeorge syndrome. This study also suggested that systematic approaches with several small DNA probes along the DGCR could help to dissect the complex phenotypes associated with the DiGeorge syndrome, such as cardiac defects, abnormal faces, thymic hypoplasia, cleft palate, and hypocalcemia, etc.
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PMID:Molecular genetic analysis of the DiGeorge syndrome among Korean patients with congenital heart disease. 1010 75

Chromosome 22q11.2 deletion (del22q11.2) syndrome (DiGeorge syndrome/velocardiofacial syndrome) is a common syndrome typically consisting of congenital heart disease, hypoparathyroidism, developmental delay and immunodeficiency. Although a broad range of immunologic defects have been described in these patients, limited information is currently available on the diversity of the T-cell receptor (TCR) variable beta (BV) chain repertoire. The TCRBV repertoires of nine patients with del22q11.2 syndrome were determined by flow cytometry, fragment size analysis of the third complementarity determining region (CDR3 spectratyping) and sequencing of V(D)J regions. The rate of thymic output and the phenotype and function of peripheral T cells were also studied. Expanded TCRBV families were detected by flow cytometry in both CD4+ and CD8+ T cells. A decreased diversity of TCR repertoires was also demonstrated by CDR3 spectratyping, showing altered CDR3 profiles in the majority of TCRBV families investigated. The oligoclonal nature of abnormal peaks detected by CDR3 spectratyping was confirmed by the sequence analysis of the V(D)J regions. Thymic output, evaluated by measuring TCR rearrangement excision circles (TRECs), was significantly decreased in comparison with age-matched controls. Finally, a significant up-regulation in the percentage, but not in the absolute count, of activated CD4+ T cells (CD95+, CCR5+, HLA-DR+), IFN-gamma - and IL-2-expressing T cells was detected. These findings suggest that the diversity of CD4 and CD8 TCRBV repertoires is decreased in patients with del22q11.2 syndrome, possibly as a result of either impaired thymic function and/or increased T-cell activation.
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PMID:Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). 1269 24

The DiGeorge syndrome/velocardiofacial syndrome is the most frequent chromosomal microdeletion syndrome. Partial deletion of chromosome 22q11 may lead to symptoms including facial dysmorphy, hypoparathyroidism, thymic aplasia, congenital heart disease, developmental retardation, and disturbance of speech development. According to the literature, 9% of patients have cleft palate, an additional 5% have a submucosal cleft, and a total of 32% show velopharyngeal insufficiency. We studied 64 children with a cleft, or with delayed speech development and a submucosal or occult cleft, for the presence of the 22q11deletion using fluorescent in situ hybridisation. Five patients had the 22q11 deletion. We conclude that patients presenting with nasal speech and additional anomalies should all be studied for the presence of submucosal or occult clefting and for the presence of the DiGeorge syndrome/velocardiofacial syndrome.
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PMID:[DiGeorge syndrome/velcardiofacial syndrome: oral and maxillofacial surgery]. 1295 54

Congenital asymmetric crying facies, a minor congenital anomaly due to unilateral absence or hypoplasia of the depressor anguli oris muscle, is associated at times with major congenital anomalies. A large number of asymmetric crying facies cases with chromosome 22q11 microdeletions have presently been reported. Fluorescence in situ hybridization (FISH) analysis for 22q11 deletion was performed on 8 infants with asymmetric crying facies. Five of our patients had at least one associated systemic anomaly. Two of 5 patients had conotruncal heart disease (Cayler cardiofacial syndrome). In three of the affected infants, we failed to reveal additional congenital malformation. The 22q11 deletion was present in only one patient. This baby had congenital hypoparathyroidism, severe neonatal hypocalcaemia and tetralogy of Fallot. We suggest, a 22q11 deletion should be excluded not in all cases but in cases with Cayler cardiofacial syndrome and in ACF associated with additional congenital anomalies.
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PMID:Associated anomalies in asymmetric crying facies and 22q11 deletion. 1457 77


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