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)

22q11.2 deletion syndrome is mainly characterized by conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial appearance. The etiology in the majority of patients is a 3-Mb recurrent deletion in region 22q11.2. Nevertheless, recently some cases of infrequent deletions with various sizes have been reported with a different phenotype. We report on a patient with congenital heart disease (truncus arteriosus type 2) in whom a de novo 1.3-Mb 22q11.2 deletion was detected by array comparative genomic hybridization. The deletion described corresponds to an atypical and distal deletion which spans low copy repeat (LCR) 4 and is associated with breakpoint sites that do not correspond to known LCRs of 22q11.2. We examine the clinical phenotype of our case and compare our findings with those published in the literature. The most prevalent clinical features in this type of deletion are a history of prematurity, pre-natal and post-natal growth retardation, slight facial dysmorphic features, microcephaly and developmental delay, with a speech defect in particular. These are clearly different from those found in the classic 22q11.2 deletion syndrome, and we believe that the main differential diagnosis should be with Silver-Russel syndrome. In our case we observe the cardiac phenotype with truncus arteriosus communis usually seen in the classic 22q11.2 deletion syndrome, and so far associated with the TBX1 gene. Significantly, however, TBX1 is not included in our patient's deletion. The possible roles of a position effect or other genes are discussed.
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PMID:22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review. 2258 37

Now-a-days truncus arteriosus has been known as "common arterial trunk" (CAT) and is an uncommon congenital cardiac defect presenting in about 1-3% congenital heart disease. Environmental and genetic factors effects on incidence of CAT and other conotruncal anomalies. The majority patients with CAT and 22q11 deletion have other anomalies such as hypoplasia or aplasia of the thymus or parathyroid glands and immune deficits (T-cell deficiency), calcium metabolism disorder (hypocalcemia), palatal defects, learning and speech disorder, craniofacial anomalies, and neuropsychological abnormalities. CAT without surgical treatment frequently involves early severe pulmonary arterial hypertension (PAH) or early death from heart failure and associated conditions. Therefore, without corrective surgical repair, most CAT patients die in the initial years of life. In numerous centers early surgical repair associated with superior than 80% long-standing survival. Anesthesiologist must be performs comprehensive preoperative evaluation of infants or neonates with this disorder. In CAT patient exactly hemodynamic monitoring and suitable techniques to regulate pulmonary vascular resistance and systemic vascular resistance and cardiac function are more important than the select of a special anesthetic drug. Therefore, anesthetic drugs should be carefully administrated and titrate and under monitoring. Management of CAT after surgical repair depends on the adequacy of treatment, cardiac function, level of PAH, and degree of bleeding. Inotropic support is frequently necessary after the cardiac ischemia associated to the surgical repair. Pulmonary vasodilator drugs were used to PAH treatment.
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PMID:New aspects of anesthetic management in congenital heart disease "common arterial trunk". 2509 11