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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In seven infants with DiGeorge syndrome the major clinical manifestation was cardiac failure in the 1st week of life. All had severe congenital heart disease: five had interruption of the aortic arch and associated lesions, one had a ventricular septal defect and a cervical aorta, and one had truncus arteriosus. All but one died by 2 weeks of age. Necropsy data lent support to the hypothesis of a relation between the cardiovascular anomalies and defective development of structures derived from the third and fourth pharyngeal pouches.
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PMID:DiGeorge syndrome presenting as severe congenital heart disease in the newborn. 60 63

Two patients with Di George syndrome are presented. Diagnosis was done at ages 4 months and 16 days respectively. Their main clinical symptoms were hypocalcemic convulsions, unusual facies (hyperthelorism, low set prominent ears, micrognathia, short philtrum) and cardiac malformations (vascular ring with right aortic arc, aberrant left innominated artery and ligamentum arteriosus in one of them and Tetralogy of Fallot with pulmonary valve atresia in the other). The first patient is now a 3.5 year old boy, his vascular ring was repaired and he has hypoparathyroidism but no clinical nor laboratory evidence of cellular immunodeficiency. The other patient had evidence of heart failure at her second week of life, she died at age sixteen days and, at necropsy, Fallot's tetralogy with pulmonary valve atresia, closed ductus arteriosus, histologically normal ectopic thymus and absent parathyroid glands were demonstrated. We postulate that these cases correspond to partial forms of Di George syndrome.
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PMID:[Di George syndrome]. 184 46

A boy born at full-term died after 14 days from cardiac failure. At autopsy DiGeorge complex was diagnosed. The father was found to have facial dysmorphia and hypocalcaemia. Investigations revealed no cause other than hypoparathyroidism associated with normal serum 1,25-dihydroxyvitamin D concentrations and normal renal handling of phosphate. Immunological tests, performed on two occasions with an interval of 9 months, revealed a decrease in the number of CD8+ lymphocytes, compatible with a partial thymus deficiency. The combination of facial dysmorphia with dysfunction of the thymus and the parathyroid glands can constitute a partial DiGeorge complex. The findings in this family are compared with reports of four other families with DiGeorge complex in two generations. In genetic counseling DiGeorge complex should be considered a heterogenous disorder. Screening of the parents for somatic stigmata, hypocalcaemia, disturbed cellular immunity, cardiac and chromosomal abnormalities is essential.
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PMID:Facial dysmorphia, parathyroid and thymic dysfunction in the father of a newborn with the DiGeorge complex. 261 7

The DiGeorge syndrome is a rare congenital abnormality of absent of hypoplastic thymus and parathyroid glands. Thirty neonates who had cardiac lesions and the DiGeorge syndrome are reviewed. The early mortality for 10 neonates undergoing palliative procedures was 80%. Seventy-five percent of the deaths were secondary to sepsis. Twenty neonates did not undergo palliative procedures. In this group, early mortality was 60% and late mortality was 65%. Sixty percent of the deaths in this group were associated with sepsis, with cardiac failure responsible for the remaining deaths. Survival in both groups has improved with appropriate treatment of the immunological and metabolic consequences of the DiGeorge syndrome.
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PMID:Congenital cardiac anomalies associated with the DiGeorge syndrome: a neonatal experience. 646 92

Two new cases of type B congenital interruption of the aortic arch are described. Both had other congenital cardiovascular malformations as well as absence of the thymus and parathyroids. They were newborn male and female, their parents were young and healthy, admitted in our institution because of feeding difficulty, respiratory distress and cyanosis with signs of heart failure. Both were diagnosed at necropsy. According to the site of the interruption of the aortic arch, three types (A, B and C) of absence of the aortic arch are recognized. In our patients as in the majority of reported cases, the interruption of the aortic arch was associated with patent ductus arteriosus, ventricular septal defect and atrial septal defect, and other cardiovascular anomalies. The association of Di George syndrome with cardiovascular anomalies is commented.
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PMID:[Steidele complex (author's transl)]. 708 60

A female infant presented with cyanosis, respiratory distress and unique to-and-fro murmur which she had since the age of 1-month-old. Absent pulmonary valve syndrome was diagnosed by echocardiography. She developed seizure disorders with hypocalcemia and pneumonia at the age of 2-month-old. The patient died from sepsis, intractable respiratory and heart failure. The postmortem study confirmed the diagnosis of congenital absent pulmonary valve associated with DiGeorge syndrome.
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PMID:Absent pulmonary valve syndrome associated with DiGeorge syndrome: report of one case. 894 31

From July 1, 1989 to June 30, 1996, a total of six patients, four male and two female, with double aortic arch (DAA) were registered. They aged 16 days to 6.5 years. There were two patients with isolated DAA, and four complicated with intracardiac anomalies. All six patients presented respiratory distress and feeding problem early in life. However, cyanosis, owing to decreased pulmonary blood flow, predominated the clinical picture in each patient having DAA intricated with tetralogy of Fallot (TOF) and pulmonary stenosis, TOF with absent pulmonary valve syndrome, and type II-A tricuspid atresia. DiGeorge syndrome was documented in one patient with TOF and pulmonary stenosis. Expiratory wheezing was remarkable in the patient with TOF and absent pulmonary valve syndrome. Mild cyanosis and heart failure was noted in one patient with ventricular septal defect (VSD), and bicuspid pulmonary valve with mild valvular stenosis. Barium esophagogram showed indentations on esophagus in five patients. Echocardiography was yielding in three infants. Four patients, two isolated and two complex DAA, survived the surgical division of the smaller left aortic arch. One-stage and two-stage operation was performed in patients having DAA intricated with VSD and TOF, respectively. The other two patients with complex DAA remained in close observation owing to the tolerance of symptoms related to intracardiac anomalies.
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PMID:Clinical implications of isolated double aortic arch and its complex with intracardiac anomalies. 957 45

A fetus with the sonographic appearance of echogenic and enlarged lungs and dilated trachea and bronchi, indicating laryngotracheal obstruction, is reported. Additionally, the fetus had ascites and subcutaneous edema and the amniotic fluid volume was reduced. Doppler flow investigation of the systemic venous circulation revealed signs of heart failure, and color Doppler visualized possible increased pulmonary flow. Following termination of pregnancy, autopsy confirmed the sonographic observations and revealed a hypoplastic thymus. During the present pregnancy the mother suffered from sustained cough, and serological tests revealed acute pertussis infection. Polymerase chain reaction investigation for Bordetella pertussis in the amniotic fluid was negative. The possibilities of pertussis toxins as noxious factors and of an atypical presentation of DiGeorge anomaly are discussed.
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PMID:Prenatal diagnosis of tracheal obstruction: possible association with maternal pertussis infection. 1077 17

A new case of severe clinical phenotype of the cat-eye syndrome: We report on a female infant with severe clinical phenotype of Cat-Eye Syndrome (CES). At birth, she had respiratory distress and marked hypotonia. Physical examination showed major craniofacial anomalies including microcephaly, bilateral total absence of the external ears, hypertelorism, bilateral ocular coloboma of iris and micrognathia. In addition, she had anal stenosis, a patent ductus arteriosus and intra- and extra- hepatic biliary atresia. She deteriorated with the development of bradycardia. She died at age one month of cardiac failure. Cytogenetic analysis of the proband showed an extra de novo small bisatelllited marker chromosome in all cells examined. Molecular cytogenetic analysis with fluorescence in situ hybridization (FISH) identified the marker as a CES chromosome. Thus, the patient's karyotype was: 47, XX, +idic(22)(pter-->q11.2 ::q11.2-->pter). The duplication breakpoints giving rise to the CES chromosome were distal to the DiGeorge Syndrome (DGS) locus 22q11.2. The marker could be classed as a type 11 symmetrical (10). According to a recent review of CES literature (1) only 41 % of the CES patients have the combination of iris coloboma, anal anomalies and preauricular anomalies. Almost 60% are hard to recognize by their phenotype alone. Only twelve patients showed a severe clinical phenotype leading to the death of the child. This phenotypic variability increases the difficulties of genetic counseling.
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PMID:A new case of a severe clinical phenotype of the cat-eye syndrome. 1565 20

Patients with cardiac failure require careful evaluation to determine the precise nature of the cause of their illness. Genetic causes of dilated cardiomyopathy are well known but inherited conditions may lead to unexpected consequences through intermediate mechanisms not readily recognised as a feature of the inherited disorder. We describe a case of dilated cardiomyopathy resulting from prolonged hypocalcaemia due to previously undiagnosed hypoparathyroidism resulting from DiGeorge Syndrome and describe the features of this case and the treatment of hypoparathyroidism.
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PMID:Dilated cardiomyopathy: a preventable presentation of DiGeorge Syndrome. 2707 Aug 88


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