Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion
Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sociedade Brasileira de Cardiologia (SBC)
2014-11-01
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| Series: | Arquivos Brasileiros de Cardiologia |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2014002300004&lng=en&tlng=en |
| _version_ | 1818479029712322560 |
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| author | Marcília S. Grassi Cristina M. A. Jacob Leslie D. Kulikowski Antonio C. Pastorino Roberta L. Dutra Nana Miura Marcelo B. Jatene Stephanie P. Pegler Chong A. Kim Magda Carneiro-Sampaio |
| author_facet | Marcília S. Grassi Cristina M. A. Jacob Leslie D. Kulikowski Antonio C. Pastorino Roberta L. Dutra Nana Miura Marcelo B. Jatene Stephanie P. Pegler Chong A. Kim Magda Carneiro-Sampaio |
| author_sort | Marcília S. Grassi |
| collection | DOAJ |
| description | Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The 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. Results: CHDs 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. Conclusion: Suspicion 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. |
| first_indexed | 2024-12-10T09:55:46Z |
| format | Article |
| id | doaj.art-1404f8816b534ad7ab3e8938299915ab |
| institution | Directory Open Access Journal |
| issn | 1678-4170 |
| language | English |
| last_indexed | 2024-12-10T09:55:46Z |
| publishDate | 2014-11-01 |
| publisher | Sociedade Brasileira de Cardiologia (SBC) |
| record_format | Article |
| series | Arquivos Brasileiros de Cardiologia |
| spelling | doaj.art-1404f8816b534ad7ab3e8938299915ab2022-12-22T01:53:29ZengSociedade Brasileira de Cardiologia (SBC)Arquivos Brasileiros de Cardiologia1678-41702014-11-01103538239010.5935/abc.20140145S0066-782X2014002300004Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 DeletionMarcília S. GrassiCristina M. A. JacobLeslie D. KulikowskiAntonio C. PastorinoRoberta L. DutraNana MiuraMarcelo B. JateneStephanie P. PeglerChong A. KimMagda Carneiro-SampaioBackground: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The 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. Results: CHDs 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. Conclusion: Suspicion 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2014002300004&lng=en&tlng=enSíndrome de DiGeorgeDeleção CromossômicaCardiopatias CongenitasHipocalcemiaCromossomos Humanos |
| spellingShingle | Marcília S. Grassi Cristina M. A. Jacob Leslie D. Kulikowski Antonio C. Pastorino Roberta L. Dutra Nana Miura Marcelo B. Jatene Stephanie P. Pegler Chong A. Kim Magda Carneiro-Sampaio Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion Arquivos Brasileiros de Cardiologia Síndrome de DiGeorge Deleção Cromossômica Cardiopatias Congenitas Hipocalcemia Cromossomos Humanos |
| title | Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion |
| title_full | Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion |
| title_fullStr | Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion |
| title_full_unstemmed | Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion |
| title_short | Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion |
| title_sort | congenital heart disease as a warning sign for the diagnosis of the 22q11 2 deletion |
| topic | Síndrome de DiGeorge Deleção Cromossômica Cardiopatias Congenitas Hipocalcemia Cromossomos Humanos |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2014002300004&lng=en&tlng=en |
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