File Download

Conference Paper: Identification of 22q11.2 deletion in patients from adult congenital heart disease clinic: a missed burden in the transition care in Hong Kong

TitleIdentification of 22q11.2 deletion in patients from adult congenital heart disease clinic: a missed burden in the transition care in Hong Kong
Authors
Issue Date2013
PublisherThe American Society of Human Genetics. The Conference abstracts' website is located at http://www.ashg.org/meetings/meetings_abstract_search.shtml
Citation
The 63rd Annual Meeting of the American Society of Human Genetics (ASHG 2013), Boston, MA., 22-26 October 2013. How to Cite?
Abstract22q11.2 deletion syndrome (22q11DS) is a common genetic diagnosis in patients with congenital heart disease (CHD). It is multi-systemic with both congenital and later-onset features with lifelong consequences. Variable clinical expression and limited awareness contribute to its under-diagnosis. With low childhood mortality, there is an increasing number of diagnosed/undiagnosed adults, posing a hidden challenge in the transition care for patients with CHD. Our objective is to determine the prevalence of 22q11DS in adult patients with conotruncal defects and to delineate their extra-cardiac manifestations. We enrolled patients through an adult CHD clinic by active screening, using fluorescence-PCR and FISH. We have recruited 156 with conotruncal defects in 2012-2013(on-going recruitment). Results: Eighteen patients are diagnosed with 22q11DS, which translates into a missed diagnosis of 1 in every 10 adults with conotruncal defects. Eleven had the cardiac diagnosis of tetralogy, 6 had pulmonary atresia and ventricular septal defect, 1 had interrupted aortic arch. Our approach of screening by molecular testing has increased the detection rate of 22q11.2DS by at least 4 times.Screening by cardiologists using dysmorphology assessment only may miss 40 percent of patients. Our cohort of patients with 22q11.2DS previously undiagnosed have less extra-cardiac manifestations that the other reported series, presumably due to lack of medical surveillance appropriate for patients with 22q11.2DS.Conclusion: This study will provide important information on the disease burden of 22q11DS and may highlight an important and actionable gap in the transitional care of patients with CHD.
Persistent Identifierhttp://hdl.handle.net/10722/193307

 

DC FieldValueLanguage
dc.contributor.authorChung, Ben_US
dc.contributor.authorChow, P-
dc.contributor.authorLiu, A-
dc.contributor.authorLee, P-
dc.contributor.authorChan, K-
dc.contributor.authorTang, M-
dc.contributor.authorLau, E-
dc.contributor.authorCheung, YF-
dc.contributor.authorChau, KT-
dc.contributor.authorLau, YL-
dc.date.accessioned2013-12-20T02:48:01Z-
dc.date.available2013-12-20T02:48:01Z-
dc.date.issued2013en_US
dc.identifier.citationThe 63rd Annual Meeting of the American Society of Human Genetics (ASHG 2013), Boston, MA., 22-26 October 2013.en_US
dc.identifier.urihttp://hdl.handle.net/10722/193307-
dc.description.abstract22q11.2 deletion syndrome (22q11DS) is a common genetic diagnosis in patients with congenital heart disease (CHD). It is multi-systemic with both congenital and later-onset features with lifelong consequences. Variable clinical expression and limited awareness contribute to its under-diagnosis. With low childhood mortality, there is an increasing number of diagnosed/undiagnosed adults, posing a hidden challenge in the transition care for patients with CHD. Our objective is to determine the prevalence of 22q11DS in adult patients with conotruncal defects and to delineate their extra-cardiac manifestations. We enrolled patients through an adult CHD clinic by active screening, using fluorescence-PCR and FISH. We have recruited 156 with conotruncal defects in 2012-2013(on-going recruitment). Results: Eighteen patients are diagnosed with 22q11DS, which translates into a missed diagnosis of 1 in every 10 adults with conotruncal defects. Eleven had the cardiac diagnosis of tetralogy, 6 had pulmonary atresia and ventricular septal defect, 1 had interrupted aortic arch. Our approach of screening by molecular testing has increased the detection rate of 22q11.2DS by at least 4 times.Screening by cardiologists using dysmorphology assessment only may miss 40 percent of patients. Our cohort of patients with 22q11.2DS previously undiagnosed have less extra-cardiac manifestations that the other reported series, presumably due to lack of medical surveillance appropriate for patients with 22q11.2DS.Conclusion: This study will provide important information on the disease burden of 22q11DS and may highlight an important and actionable gap in the transitional care of patients with CHD.-
dc.languageengen_US
dc.publisherThe American Society of Human Genetics. The Conference abstracts' website is located at http://www.ashg.org/meetings/meetings_abstract_search.shtml-
dc.relation.ispartofAnnual Meeting of the American Society of Human Genetics, ASHG 2013en_US
dc.titleIdentification of 22q11.2 deletion in patients from adult congenital heart disease clinic: a missed burden in the transition care in Hong Kongen_US
dc.typeConference_Paperen_US
dc.identifier.emailChung, B: bhychung@hku.hken_US
dc.identifier.emailCheung, YF: xfcheung@hku.hk-
dc.identifier.emailChau, KT: aktchau@hku.hk-
dc.identifier.emailLau, YL: lauylung@hku.hk-
dc.identifier.authorityChung, B=rp00473en_US
dc.description.naturelink_to_OA_fulltext-
dc.identifier.hkuros226922en_US
dc.publisher.placeUnited States-

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats