J Pediatr Genet 2020; 09(04): 227-234
DOI: 10.1055/s-0040-1713155
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil

1  Department of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil
,
2  Department of Biomedicine, UFCSPA, Porto Alegre, RS, Brazil
,
1  Department of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil
,
3  Department of Internal Medicine, Clinical Genetics, UFCSPA and Irmandade Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, RS, Brazil
,
4  Child and Adolescent Health Care Unit, Hospital Escola da Universidade Federal de Pelotas (HE-UFPEL), Pelotas, RS, Brazil
,
5  Department of Clinical Medicine, Hospital Universitário de Santa Maria (HU-SM), Santa Maria, RS, Brazil
,
Janaína Huber
6  Department of Congenital and Pediatric Heart Disease, Instituto de Cardiologia/Fundacão Universitária de Cardiologia, Porto Alegre, RS, Brazil
,
1  Department of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil
3  Department of Internal Medicine, Clinical Genetics, UFCSPA and Irmandade Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, RS, Brazil
,
1  Department of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil
3  Department of Internal Medicine, Clinical Genetics, UFCSPA and Irmandade Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, RS, Brazil
› Author Affiliations
Funding This study was supported by the Programa de Extensão Universitária do Ministério da Educação e Cultura (PROEXT), Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES, 001), and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq, 302931/2019-8).
Further Information

Publication History

20 February 2020

05 May 2020

Publication Date:
17 June 2020 (online)

Abstract

22q11.2 deletion syndrome (22q11.2DS) is considered one of the most frequently observed chromosomal abnormalities in association with congenital heart disease (CHD), which can also include some combination of other features. Thus, the aim of this work was to verify the profile of dysmorphic features and heart defects found in patients referred to a reference center in Southern Brazil with clinical findings suggestive of 22q11.2DS. In the overall sample group, only patients with dysmorphic facial features (skull, eyes, ear, and nose) associated with CHD (obstructive pulmonary valve ring, truncus arteriosus, and bicuspid aortic valve associated with atrial septal defect and/or right aortic arch) had a 22q11.2 deletion. These findings proved to be reliable clinical criteria for referral to perform fluorescent in situ hybridization investigation for 22q11.2 deletion.

Authors' Contributions

B.L.D, A.S.S, A.B.G., and P.R.G.Z performed genetic testing and wrote the manuscript. B.L.D., and P.R.G.Z supervised genetic testing. B.L.D, B.B.G., and R.F.M.R reviewed clinical data and edited the manuscript. A.S.S, A.B.G., B.B.G, C.F.L, and J.A.J reviewed the medical records. B.L.D, P.R.G.Z., and R.F.M.R designed the study, supervised genetic tests, wrote, and edited the manuscript.