Delayed diagnosis of Loeys‐Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation
Loeys‐Dietz syndrome (LDS) is an autosomal‐dominant connective tissue disorder associated with mutations in the transforming growth factor β receptor. It is characterized by distinctive craniofacial changes, skeletal features, and cardiovascular complications. We present a case of a 24‐year‐old male...
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| Veröffentlicht in: | Echocardiography (Mount Kisco, N.Y.) N.Y.), 2024-06, Vol.41 (6), p.e15851-n/a |
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| container_title | Echocardiography (Mount Kisco, N.Y.) |
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| creator | Zamora, Karina Del Valle Fernandez‐Sandoval, Maria Fernanda Quiroz‐Martinez‐Martinez, Victor Alejandro Vera‐Chavez, Jacobo Sebastian Martinez‐Dominguez, Pavel Espinola‐Zavaleta, Nilda |
| description | Loeys‐Dietz syndrome (LDS) is an autosomal‐dominant connective tissue disorder associated with mutations in the transforming growth factor β receptor. It is characterized by distinctive craniofacial changes, skeletal features, and cardiovascular complications. We present a case of a 24‐year‐old male with development delay and a one‐year history of progressively worsening dyspnea on moderate exertion and orthopnea. Echocardiography revealed right atrial and right ventricle dilation, right ventricle hypertrophy, atrial septal defect, and aneurysmal dilation of the pulmonary artery trunk. This case underscores the importance of early detection and comprehensive imaging in patients suspected of having LDS, particularly considering the potential for atypical vascular manifestations.
24‐year‐old male with Loeys‐Dietz syndrome presenting with severe pulmonary artery dilation, complex atrial septal defect, and absence of aortic root involvement. |
| doi_str_mv | 10.1111/echo.15851 |
| format | Article |
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24‐year‐old male with Loeys‐Dietz syndrome presenting with severe pulmonary artery dilation, complex atrial septal defect, and absence of aortic root involvement.</description><subject>atrial septal defect</subject><subject>Delayed Diagnosis</subject><subject>Diagnosis, Differential</subject><subject>Dilatation, Pathologic</subject><subject>echocardiography</subject><subject>Echocardiography - methods</subject><subject>Heart Septal Defects, Atrial - complications</subject><subject>Heart Septal Defects, Atrial - diagnosis</subject><subject>Humans</subject><subject>Loeys-Dietz Syndrome - complications</subject><subject>Loeys-Dietz Syndrome - diagnosis</subject><subject>Loeys‐Dietz syndrome</subject><subject>Male</subject><subject>Pulmonary Artery - abnormalities</subject><subject>Pulmonary Artery - diagnostic imaging</subject><subject>pulmonary artery dilation</subject><subject>Young Adult</subject><issn>0742-2822</issn><issn>1540-8175</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kL1OHDEURq0oUdhAmjxA5DJCGuJfbEq0QIi0Ek2oRx7PNevIMx5sD6uh4hHyjHmSmCykzG2-5ujo6iD0iZITWu8r2G08oVJL-gatqBSk0VTJt2hFlGAN04wdoA85_ySEKErFe3TAteZKErJC0wUEs0CPe2_uxph9xtHhTYQl_376deGhPOK8jH2KA-AED2BChcs2xflui01J3gScYSp1enBgC975ssXTHIY4mrRgkwrU6X0wxcfxCL1zJmT4-LKH6Pbq8sf6utncfPu-Pt80lmlNG91Rzs5cR7r6P-UdE4JLxa2TnLtOEyGBa8WsM52wynENxCh3pqyQ_akQjh-iL3vvlOL9DLm0g88WQjAjxDm3nJxKpqTQtKLHe9SmmHMC107JD_X3lpL2uXD7XLj9W7jCn1-8czdA_w99TVoBugd2PsDyH1V7ub6-2Uv_AJHDiKw</recordid><startdate>202406</startdate><enddate>202406</enddate><creator>Zamora, Karina Del Valle</creator><creator>Fernandez‐Sandoval, Maria Fernanda</creator><creator>Quiroz‐Martinez‐Martinez, Victor Alejandro</creator><creator>Vera‐Chavez, Jacobo Sebastian</creator><creator>Martinez‐Dominguez, Pavel</creator><creator>Espinola‐Zavaleta, Nilda</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-4820-1325</orcidid></search><sort><creationdate>202406</creationdate><title>Delayed diagnosis of Loeys‐Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation</title><author>Zamora, Karina Del Valle ; Fernandez‐Sandoval, Maria Fernanda ; Quiroz‐Martinez‐Martinez, Victor Alejandro ; Vera‐Chavez, Jacobo Sebastian ; Martinez‐Dominguez, Pavel ; Espinola‐Zavaleta, Nilda</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2881-8b1329fb0b28213b2443573cf533fb8045e3872cfab4c7f38e0a7f97c45d644f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>atrial septal defect</topic><topic>Delayed Diagnosis</topic><topic>Diagnosis, Differential</topic><topic>Dilatation, Pathologic</topic><topic>echocardiography</topic><topic>Echocardiography - methods</topic><topic>Heart Septal Defects, Atrial - complications</topic><topic>Heart Septal Defects, Atrial - diagnosis</topic><topic>Humans</topic><topic>Loeys-Dietz Syndrome - complications</topic><topic>Loeys-Dietz Syndrome - diagnosis</topic><topic>Loeys‐Dietz syndrome</topic><topic>Male</topic><topic>Pulmonary Artery - abnormalities</topic><topic>Pulmonary Artery - diagnostic imaging</topic><topic>pulmonary artery dilation</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zamora, Karina Del Valle</creatorcontrib><creatorcontrib>Fernandez‐Sandoval, Maria Fernanda</creatorcontrib><creatorcontrib>Quiroz‐Martinez‐Martinez, Victor Alejandro</creatorcontrib><creatorcontrib>Vera‐Chavez, Jacobo Sebastian</creatorcontrib><creatorcontrib>Martinez‐Dominguez, Pavel</creatorcontrib><creatorcontrib>Espinola‐Zavaleta, Nilda</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Echocardiography (Mount Kisco, N.Y.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zamora, Karina Del Valle</au><au>Fernandez‐Sandoval, Maria Fernanda</au><au>Quiroz‐Martinez‐Martinez, Victor Alejandro</au><au>Vera‐Chavez, Jacobo Sebastian</au><au>Martinez‐Dominguez, Pavel</au><au>Espinola‐Zavaleta, Nilda</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Delayed diagnosis of Loeys‐Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation</atitle><jtitle>Echocardiography (Mount Kisco, N.Y.)</jtitle><addtitle>Echocardiography</addtitle><date>2024-06</date><risdate>2024</risdate><volume>41</volume><issue>6</issue><spage>e15851</spage><epage>n/a</epage><pages>e15851-n/a</pages><issn>0742-2822</issn><eissn>1540-8175</eissn><abstract>Loeys‐Dietz syndrome (LDS) is an autosomal‐dominant connective tissue disorder associated with mutations in the transforming growth factor β receptor. It is characterized by distinctive craniofacial changes, skeletal features, and cardiovascular complications. We present a case of a 24‐year‐old male with development delay and a one‐year history of progressively worsening dyspnea on moderate exertion and orthopnea. Echocardiography revealed right atrial and right ventricle dilation, right ventricle hypertrophy, atrial septal defect, and aneurysmal dilation of the pulmonary artery trunk. This case underscores the importance of early detection and comprehensive imaging in patients suspected of having LDS, particularly considering the potential for atypical vascular manifestations.
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| ispartof | Echocardiography (Mount Kisco, N.Y.), 2024-06, Vol.41 (6), p.e15851-n/a |
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| source | Wiley Online Library - AutoHoldings Journals; MEDLINE |
| subjects | atrial septal defect Delayed Diagnosis Diagnosis, Differential Dilatation, Pathologic echocardiography Echocardiography - methods Heart Septal Defects, Atrial - complications Heart Septal Defects, Atrial - diagnosis Humans Loeys-Dietz Syndrome - complications Loeys-Dietz Syndrome - diagnosis Loeys‐Dietz syndrome Male Pulmonary Artery - abnormalities Pulmonary Artery - diagnostic imaging pulmonary artery dilation Young Adult |
| title | Delayed diagnosis of Loeys‐Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation |
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