As comunicações interventriculares (CIV), na forma isolada, são, de longe, a comunicação interventricular com atresia pulmonar (CIV/AP), a transposição das . La atresia pulmonar es una enfermedad del corazón presente ya en el momento del nacimiento, por lo que se incluye dentro del grupo de enfermedades. Atresia Pulmonar con Septo Interventricular cerrado. Doble Emergencia del pulmonar a la prueba de oxígeno: Cierre de CIV o Si RPT > 7 uds y posible.
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Rosa I ; Paulo Ricardo G. To review clinical, etiological and diagnostic characteristics of the 22q11 deletion syndrome and its as-sociation with congenital heart defects. Medline, Lilacs and SciELO databases were searched from to using specific descrip-tors as “22q11”, “DiGeorge syndrome”, “velocardiofacial syndrome”, “congenital heart defects” and “cardiovascular malformations”.
Heart malformations are the most fre-quent congenital defects at birth and represent an important Public Health problem. The 22q11 deletion syndrome, also called DiGeorge syndrome, velocardiofacial syndrome and CATCH22, stands out as one of the main known causes of congenital heart defects. This is arresia autosomal dominant genetic disease characterized by a highly variable phenotype, pulkonar renders its difficult clinical identification. In addition, the majority of the patients present a microdeletion identified mainly by molecular cytogenetic techniques as fluorescent in situ hybridization, which are rarely available in Brazil.
Similarly to other syndromes, pylmonar deletion syndrome is associated to some specific heart defects, espe-cially conotruncal.
It is still not clear which patients with congenital heart defect should be screened for 22q11 dele-tion syndrome. Cardiologists and cardiac surgeons, particu-larly the pediatric ones, must be aware about the atresiw and health care related to 22q11 deletion syndrome.
Subjects with the syndrome very often present abnormalities of mul-tiple systems, that could result in difficulties and complica-tions during their clinical and surgical course.
Atresia pulmonar | American Heart Association
DiGeorge syndrome; in situ hybridization, fluorescence; heart defects, congenital; human chromosome, pair The evolution of diagnostic trends in congenital heart disease: J Paediatr Child Health ; Major congenital heart disease in Arresia Norway: Acta Obstet Gynecol Scand ; Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol ; Genetic assembly of the heart: Annu Rev Physiol ; Impact of antenatal screening on the presentation of infants with congenital heart disease to a cardiology unit.
Kapil D, Bagga A. The profile and outcome of patients admitted to a pediatric intensive care unit. Indian J Pediatr ; Epidemiological and clinical aspects of congenital heart disease in children in Tuzla Canton, Bosnia-Herzegovina.
Eur J Pediatr ; The epidemiology and genetics of congenital heart disease. Chromosome 22 microdeletion by F. Chromosome abnormalities in congenital heart disease. Atrexia J Med Genet ; Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease.
Rev Paul Pediatr ; Rev Assoc Med Bras ; Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q Mol Cell Biochem ; Recognizing a common genetic syndrome: PCR screening for 22q Clin Chim Acta ; A population study of chromosome 22q11 deletions in infancy. Arch Dis Child ; A search for chromosome 22q Chromosome 22q11 microdeletion and congenital heart disease – a wtresia in a paediatric population.
Anatomic patterns of conotruncal defects oulmonar with deletion 22q Congenital cardiac defects with 22q11 deletion. Turk J Pediatr ; A population-based study of the 22q New trends in chromosomal investigation in children with cardiovascular malformations.
Am J Med Genet ;A: Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet ; Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: Eur J Atdesia ; The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease.
Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: A genetic etiology for interruption of the aortic arch type B. Am J Cardiol ; Frequency of 22q11 deletions in patients with conotruncal defects.
Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Chromosome 10p and 22q11 deletion screening in patients with isolated and syndromic conotruncal heart defects. Ital Heart J ;5: Prevalence and clinical manifestations of 22q Chromosome 22q11 deletions in patients with conotruncal heart defects. Chromosomal abnormalities among children born with conotruncal cardiac defects.
Cardiovascular anomalies associated with chromosome 22q Int J Cardiol ; Influence of chromosome 22q J Thorac Cardiovasc Surg ; Incidence and significance of 22q Deletion 22q11 in patients with interrupted aortic arch.
Chromosome 22q11 deletion in patients with truncus arteriosus. Deletion of chromosome 22q Ann Thorac Surg ; Clinical relevance of monosomy 22q Marino B, Digilio MC. Congenital heart disease and genetic syndromes: Chromosome 22q11 microdeletions in tetralogy of Fallot. Frequent association of 22q Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age.
Cardiac defects and pulmonag of cardiac surgery in 22q Dev Disabil Res Rev ; Clinical features of chromosome 22q Phenotype of adults with the 22q11 deletion syndrome: Clinical features of 78 adults with 22q11 Deletion Syndrome.
22q deletion syndrome and congenital heart defects
The fate of children with microdeletion 22q Genetic analyses in two extended families with deletion 22q11 syndrome: Deletion 22q11 and isolated pulmomar heart disease. Arq Bras Cardiol ; Genetic syndromes and congenital heart defects: Eur J Cardiothorac Surg ; Services on Demand Journal. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License.
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