Síndrome de deleção 22q11 e cardiopatias congênitas complexas

Rosa, Rafael Fabiano Machado; Trevisan, Patrícia; Koshiyama, Dayane Bohn; Pilla, Carlo Benatti; Zen, Paulo Ricardo Gazzola; Varella‐Garcia, Marileila; Paskulin, Giorgio Adriano

doi:10.1590/s0104-42302011000100018

Cited by 4 publications

(1 citation statement)

References 19 publications

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“…Cardiac malformations, observed in 77% of our cases, are the most critical manifestation of 22q11.2DS and affect between 49% and 95% of the patients according to the literature 1 , 22 . A point to be highlighted in this cohort was the higher frequency of tetralogy of Fallot (38.3%) when compared with the literature in which frequencies between 17.6% and 20% have been described 22 - 24 . Another point to be emphasized in our study was the occurrence of ventricular septal defect associated with 22q11.2DS; this was the second most frequent CHD, which contrasts with the literature which shows that conotruncal heart defects are the most prevalent.…”

Section: Discussionmentioning

confidence: 55%

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Grassi¹,

Jacob²,

Kulikowski³

et al. 2014

Arquivos Brasileiros De Cardiologia

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BackgroundTo alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD).ObjectiveTo describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS.MethodsThe study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed.ResultsCHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients.ConclusionSuspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

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Section: Discussionmentioning

confidence: 55%

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Grassi¹,

Jacob²,

Kulikowski³

et al. 2014

Arquivos Brasileiros De Cardiologia

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A novel TBX1 missense mutation in patients with syndromic congenital heart defects

Jaouadi¹,

Tabebi²,

Abdelhedi

et al. 2018

Biochemical and Biophysical Research Communications

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The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

et al. 2019

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The 22q11.2 deletion syndrome (22q11.2DS) is present in approximately 5 to 8% of patients with cleft lip, palate, or both (CL/P) and 75 to 80% of patients with congenital heart disease (CHD). In a literature review, we consider this association of 22q11.2DS in pediatric patients with CL/P and CHD. Early diagnosis of 22q11.2DS in pediatric patients with CL/P and CHD helps to optimize a multidisciplinary treatment approach for 22q11DS. Early diagnosis, thereby, can improve quality of life for these patients and awareness of other potential clinical implications that may require attention throughout the patient's life.

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Síndrome de deleção 22q11 e cardiopatias congênitas complexas

Abstract: 22q11DS is a frequent abnormality among patients with complex and conotruncal heart defects. Variations of the 22q11DS frequency among studies seem to be mainly associated to criteria for patient selection and specific characteristics of the population in analysis.

Cited by 4 publications

References 19 publications

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

A novel TBX1 missense mutation in patients with syndromic congenital heart defects

The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

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