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Molecular Screening for 22Q11.2 Deletion Syndrome in Patients With Congenital Heart Disease

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Abstract

Few studies have investigated the prevalence of 22q11.2 deletion syndrome (22q11.2DS) among patients with isolated heart defects or nonconotruncal heart defects. Polymerase chain reaction (PCR) followed by length polymorphism restriction fragment analysis (RFLP) is useful for low-cost molecular diagnosis and screening. This cross-sectional study included 392 patients with congenital heart disease, described clinical features, and performed PCR–RFLP for analysis of polymorphism in three loci with a high heterozygosity rate located in the typically deleted region of 1.5 megabases. Heterozygosity excluded 22q11.2DS. Patients with homozygosity for the three markers underwent multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH) for the final diagnosis, estimating the prevalence of 22q11.2DS. The use of PCR–RFLP excluded 22q11.2DS in 81.6 % (n = 320) of 392 patients. Of the remaining 72 patients, 65 underwent MLPA, showing 22q11.2DS in five cases (prevalence, 1.27 %). Four of these five patients underwent FISH, confirming the MLPA results. All five patients with the deletion had heart diseases commonly found with 22q11.2DS (interrupted aortic arch, persistent truncus arteriosus, tetralogy of Fallot, and ventricular septal defect plus atrial septal defect). Two patients had congenital extracardiac anomaly (one with arched palate and micrognathia and one with hypertelorism). Three patients reported recurrent respiratory infections, and one patient reported hypocalcemia. All were underweight or short in stature for their age. This study contributed to showing the prevalence of 22q11.2DS in patients with any congenital heart disease, with or without other features of the syndrome. Patients with 22q11.2DS may not have all the major features of the syndrome, and those that are found may be due to the heart defect.

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Acknowledgments

The acknowledge the contributions of Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (FAPERGS), Centro Nacional de Desenvolvimento Científico e Tecnológico (CNPq), Fundo de Apoio à Pesquisa do Instituto de Cardiologia/Fundação Universitária de Cardiologia à Ciência e à Cultura (FAPICC), Fundo de Incentivo à Pesquisa e Eventos/Hospital de Clínicas de Porto Alegre (FIPE-HCPA), and RedeBRIM Project/Centro Nacional de Desenvolvimento Científico e Tecnológico (CNPq)/Brazil.

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Unidade de Pesquisa, Instituto de Cardiologia/Fundação Universitária de Cardiologia, Avenida Princesa Isabel, 370, Santana, Porto Alegre, RS, 90620-000, Brazil

    Janaína Huber, Vivian Catarino Peres, Alexandre Luz de Castro, Tiago Jeronimo dos Santos, Lauro da Fontoura Beltrão, Angélica Cerveira de Baumont, Andrés Delgado Cañedo & Lucia Campos Pellanda

  2. Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

    Alexandre Luz de Castro, Tiago Jeronimo dos Santos, Lauro da Fontoura Beltrão, Angélica Cerveira de Baumont & Lucia Campos Pellanda

  3. Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil

    Silvia Liliana Cossio, Mariluce Riegel & Beatriz D’Agord Schaan

  4. Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Tiago Pires Dalberto, Mariluce Riegel & Beatriz D’Agord Schaan

  5. Universidade Federal do Pampa, Bagé, Brazil

    Andrés Delgado Cañedo

Authors
  1. Janaína Huber
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  2. Vivian Catarino Peres
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  3. Alexandre Luz de Castro
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  4. Tiago Jeronimo dos Santos
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  5. Lauro da Fontoura Beltrão
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  6. Angélica Cerveira de Baumont
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  7. Silvia Liliana Cossio
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  9. Mariluce Riegel
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  10. Andrés Delgado Cañedo
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  11. Beatriz D’Agord Schaan
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  12. Lucia Campos Pellanda
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Correspondence to Lucia Campos Pellanda.

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Huber, J., Peres, V.C., de Castro, A.L. et al. Molecular Screening for 22Q11.2 Deletion Syndrome in Patients With Congenital Heart Disease. Pediatr Cardiol 35, 1356–1362 (2014). https://doi.org/10.1007/s00246-014-0936-0

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  • DOI: https://doi.org/10.1007/s00246-014-0936-0

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