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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.
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.
DescriptionThe Meeting abstracts' web site is located at http://www.ashg.org/meetings/meetings_abstract_search.shtml
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.descriptionThe Meeting abstracts' web site is located at http://www.ashg.org/meetings/meetings_abstract_search.shtml-
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.-
dc.relation.ispartof63rd ASHG Annual Meeting 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-

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