Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan
Williams syndrome (WS) is a rare genetic disorder caused by the microdeletion of chromosome 7q11.23. Cardiovascular defects (CVDs) are the leading causes of morbidity and mortality in patients with WS. The most common CVD in patients with WS is supravalvular aortic stenosis (SVAS), which recovers sp...
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| Veröffentlicht in: | Journal of personalized medicine 2022-05, Vol.12 (5), p.817 |
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| creator | Lee, Chung-Lin Lin, Shan-Miao Chen, Ming-Ren Chuang, Chih-Kuang Syu, Yu-Min Chiu, Huei-Ching Tu, Ru-Yi Lo, Yun-Ting Chang, Ya-Hui Lin, Hsiang-Yu Lin, Shuan-Pei |
| description | Williams syndrome (WS) is a rare genetic disorder caused by the microdeletion of chromosome 7q11.23. Cardiovascular defects (CVDs) are the leading causes of morbidity and mortality in patients with WS. The most common CVD in patients with WS is supravalvular aortic stenosis (SVAS), which recovers spontaneously similar to branch pulmonary stenosis (PS). Recently, conventional beliefs, such as SVAS improving rather than worsening in WS, have been challenged. This study thoroughly reviews the medical records of 30 patients with a molecular diagnosis of WS. We followed up these patients at Taipei MacKay Memorial Hospital from January 1999 to December 2021. The long-term outcomes of cardiovascular lesions as well as the change in peak pressure gradient in obstructive cardiovascular lesions over time were studied. Among these 30 patients, the most common cardiovascular lesion was SVAS (50.0%), followed by branch PS (36.7%). During the follow-up period, severe SVAS was aggravated (
= 0.021). The peak pressure gradient decreased from 38.4 to 25.3 mmHg (
= 0.001) in patients with branch PS. Among patients with WS, those with severe SVAS deteriorated over time, whereas those with branch PS improved on their own. In patients with WS who presented with branch PS, no disease-specific intervention was needed. |
| doi_str_mv | 10.3390/jpm12050817 |
| format | Article |
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= 0.021). The peak pressure gradient decreased from 38.4 to 25.3 mmHg (
= 0.001) in patients with branch PS. Among patients with WS, those with severe SVAS deteriorated over time, whereas those with branch PS improved on their own. In patients with WS who presented with branch PS, no disease-specific intervention was needed.</description><identifier>ISSN: 2075-4426</identifier><identifier>EISSN: 2075-4426</identifier><identifier>DOI: 10.3390/jpm12050817</identifier><identifier>PMID: 35629241</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Age ; Angioplasty ; Aortic stenosis ; Catheters ; Chromosome 7 ; Genetic disorders ; Hospitals ; Intervention ; Intubation ; Lesions ; Medical imaging ; Medical records ; Mitral valve prolapse ; Morbidity ; Patients ; Precision medicine ; Surgery ; Ultrasonic imaging ; Williams syndrome</subject><ispartof>Journal of personalized medicine, 2022-05, Vol.12 (5), p.817</ispartof><rights>2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2022 by the authors. 2022</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c409t-1869db8fe6f0f4ae414f12a30dc965948fbfe773f1844fc0b5a99c3e4e87361d3</citedby><cites>FETCH-LOGICAL-c409t-1869db8fe6f0f4ae414f12a30dc965948fbfe773f1844fc0b5a99c3e4e87361d3</cites><orcidid>0000-0001-8178-6938 ; 0000-0002-9619-0990 ; 0000-0001-7530-5499 ; 0000-0003-0708-1002 ; 0000-0001-9776-2092</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9146911/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9146911/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35629241$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lee, Chung-Lin</creatorcontrib><creatorcontrib>Lin, Shan-Miao</creatorcontrib><creatorcontrib>Chen, Ming-Ren</creatorcontrib><creatorcontrib>Chuang, Chih-Kuang</creatorcontrib><creatorcontrib>Syu, Yu-Min</creatorcontrib><creatorcontrib>Chiu, Huei-Ching</creatorcontrib><creatorcontrib>Tu, Ru-Yi</creatorcontrib><creatorcontrib>Lo, Yun-Ting</creatorcontrib><creatorcontrib>Chang, Ya-Hui</creatorcontrib><creatorcontrib>Lin, Hsiang-Yu</creatorcontrib><creatorcontrib>Lin, Shuan-Pei</creatorcontrib><title>Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan</title><title>Journal of personalized medicine</title><addtitle>J Pers Med</addtitle><description>Williams syndrome (WS) is a rare genetic disorder caused by the microdeletion of chromosome 7q11.23. Cardiovascular defects (CVDs) are the leading causes of morbidity and mortality in patients with WS. The most common CVD in patients with WS is supravalvular aortic stenosis (SVAS), which recovers spontaneously similar to branch pulmonary stenosis (PS). Recently, conventional beliefs, such as SVAS improving rather than worsening in WS, have been challenged. This study thoroughly reviews the medical records of 30 patients with a molecular diagnosis of WS. We followed up these patients at Taipei MacKay Memorial Hospital from January 1999 to December 2021. The long-term outcomes of cardiovascular lesions as well as the change in peak pressure gradient in obstructive cardiovascular lesions over time were studied. Among these 30 patients, the most common cardiovascular lesion was SVAS (50.0%), followed by branch PS (36.7%). During the follow-up period, severe SVAS was aggravated (
= 0.021). The peak pressure gradient decreased from 38.4 to 25.3 mmHg (
= 0.001) in patients with branch PS. Among patients with WS, those with severe SVAS deteriorated over time, whereas those with branch PS improved on their own. In patients with WS who presented with branch PS, no disease-specific intervention was needed.</description><subject>Age</subject><subject>Angioplasty</subject><subject>Aortic stenosis</subject><subject>Catheters</subject><subject>Chromosome 7</subject><subject>Genetic disorders</subject><subject>Hospitals</subject><subject>Intervention</subject><subject>Intubation</subject><subject>Lesions</subject><subject>Medical imaging</subject><subject>Medical records</subject><subject>Mitral valve prolapse</subject><subject>Morbidity</subject><subject>Patients</subject><subject>Precision medicine</subject><subject>Surgery</subject><subject>Ultrasonic imaging</subject><subject>Williams syndrome</subject><issn>2075-4426</issn><issn>2075-4426</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>BENPR</sourceid><recordid>eNpdkc1rVDEUxYMottSu3EvAjVCe5uvlJS6EMrQqjLjoiMuQSW7GDHnJmMyr9r_3Da1l9EK4gfPL4YSD0EtK3nKuybvtbqSM9ETR4Qk6ZWToOyGYfHp0P0HnrW3JPKpnTJLn6IT3kmkm6Cnyy5I33QrqiBe2-lhubXNTshVfx-xj3jQcM_4eU4p2bPjmLvtaRniPL_HNrCbAX8BHZxNeQN5DxVe_d1AjZAeHhysbf9n8Aj0LNjU4f9hn6Nv11WrxqVt-_fh5cbnsnCB631EltV-rADKQICwIKgJllhPvtOy1UGEdYBh4oEqI4Mi6t1o7DgLUwCX1_Ax9uPfdTesRvJsTVZvMrsbR1jtTbDT_Kjn-MJtyazQVUlM6G7x5MKjl5wRtb8bYHKRkM5SpGSYHOp9eqRl9_R-6LVPN8_cOFGGE9PpAXdxTrpbWKoTHMJSYQ4HmqMCZfnWc_5H9Wxf_A2VcloQ</recordid><startdate>20220518</startdate><enddate>20220518</enddate><creator>Lee, Chung-Lin</creator><creator>Lin, Shan-Miao</creator><creator>Chen, Ming-Ren</creator><creator>Chuang, Chih-Kuang</creator><creator>Syu, Yu-Min</creator><creator>Chiu, Huei-Ching</creator><creator>Tu, Ru-Yi</creator><creator>Lo, Yun-Ting</creator><creator>Chang, Ya-Hui</creator><creator>Lin, Hsiang-Yu</creator><creator>Lin, Shuan-Pei</creator><general>MDPI AG</general><general>MDPI</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-8178-6938</orcidid><orcidid>https://orcid.org/0000-0002-9619-0990</orcidid><orcidid>https://orcid.org/0000-0001-7530-5499</orcidid><orcidid>https://orcid.org/0000-0003-0708-1002</orcidid><orcidid>https://orcid.org/0000-0001-9776-2092</orcidid></search><sort><creationdate>20220518</creationdate><title>Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan</title><author>Lee, Chung-Lin ; Lin, Shan-Miao ; Chen, Ming-Ren ; Chuang, Chih-Kuang ; Syu, Yu-Min ; Chiu, Huei-Ching ; Tu, Ru-Yi ; Lo, Yun-Ting ; Chang, Ya-Hui ; Lin, Hsiang-Yu ; Lin, Shuan-Pei</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c409t-1869db8fe6f0f4ae414f12a30dc965948fbfe773f1844fc0b5a99c3e4e87361d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Age</topic><topic>Angioplasty</topic><topic>Aortic stenosis</topic><topic>Catheters</topic><topic>Chromosome 7</topic><topic>Genetic disorders</topic><topic>Hospitals</topic><topic>Intervention</topic><topic>Intubation</topic><topic>Lesions</topic><topic>Medical imaging</topic><topic>Medical records</topic><topic>Mitral valve prolapse</topic><topic>Morbidity</topic><topic>Patients</topic><topic>Precision medicine</topic><topic>Surgery</topic><topic>Ultrasonic imaging</topic><topic>Williams syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lee, Chung-Lin</creatorcontrib><creatorcontrib>Lin, Shan-Miao</creatorcontrib><creatorcontrib>Chen, Ming-Ren</creatorcontrib><creatorcontrib>Chuang, Chih-Kuang</creatorcontrib><creatorcontrib>Syu, Yu-Min</creatorcontrib><creatorcontrib>Chiu, Huei-Ching</creatorcontrib><creatorcontrib>Tu, Ru-Yi</creatorcontrib><creatorcontrib>Lo, Yun-Ting</creatorcontrib><creatorcontrib>Chang, Ya-Hui</creatorcontrib><creatorcontrib>Lin, Hsiang-Yu</creatorcontrib><creatorcontrib>Lin, Shuan-Pei</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Biological Science Database</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of personalized medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lee, Chung-Lin</au><au>Lin, Shan-Miao</au><au>Chen, Ming-Ren</au><au>Chuang, Chih-Kuang</au><au>Syu, Yu-Min</au><au>Chiu, Huei-Ching</au><au>Tu, Ru-Yi</au><au>Lo, Yun-Ting</au><au>Chang, Ya-Hui</au><au>Lin, Hsiang-Yu</au><au>Lin, Shuan-Pei</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan</atitle><jtitle>Journal of personalized medicine</jtitle><addtitle>J Pers Med</addtitle><date>2022-05-18</date><risdate>2022</risdate><volume>12</volume><issue>5</issue><spage>817</spage><pages>817-</pages><issn>2075-4426</issn><eissn>2075-4426</eissn><abstract>Williams syndrome (WS) is a rare genetic disorder caused by the microdeletion of chromosome 7q11.23. Cardiovascular defects (CVDs) are the leading causes of morbidity and mortality in patients with WS. The most common CVD in patients with WS is supravalvular aortic stenosis (SVAS), which recovers spontaneously similar to branch pulmonary stenosis (PS). Recently, conventional beliefs, such as SVAS improving rather than worsening in WS, have been challenged. This study thoroughly reviews the medical records of 30 patients with a molecular diagnosis of WS. We followed up these patients at Taipei MacKay Memorial Hospital from January 1999 to December 2021. The long-term outcomes of cardiovascular lesions as well as the change in peak pressure gradient in obstructive cardiovascular lesions over time were studied. Among these 30 patients, the most common cardiovascular lesion was SVAS (50.0%), followed by branch PS (36.7%). During the follow-up period, severe SVAS was aggravated (
= 0.021). The peak pressure gradient decreased from 38.4 to 25.3 mmHg (
= 0.001) in patients with branch PS. Among patients with WS, those with severe SVAS deteriorated over time, whereas those with branch PS improved on their own. In patients with WS who presented with branch PS, no disease-specific intervention was needed.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>35629241</pmid><doi>10.3390/jpm12050817</doi><orcidid>https://orcid.org/0000-0001-8178-6938</orcidid><orcidid>https://orcid.org/0000-0002-9619-0990</orcidid><orcidid>https://orcid.org/0000-0001-7530-5499</orcidid><orcidid>https://orcid.org/0000-0003-0708-1002</orcidid><orcidid>https://orcid.org/0000-0001-9776-2092</orcidid><oa>free_for_read</oa></addata></record> |
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| source | MDPI - Multidisciplinary Digital Publishing Institute; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; PubMed Central Open Access |
| subjects | Age Angioplasty Aortic stenosis Catheters Chromosome 7 Genetic disorders Hospitals Intervention Intubation Lesions Medical imaging Medical records Mitral valve prolapse Morbidity Patients Precision medicine Surgery Ultrasonic imaging Williams syndrome |
| title | Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan |
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