Tetralogy of Fallot with pulmonary atresia in siblings
We present two sisters with tetralogy of Fallot and pulmonary valve atresia. Both had identical anatomical findings as seen at cardiac catheterization and angiography and verified operatively, with, in particular, identical bronchial circulation and pulmonary valve structure. The parents are first c...
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| Veröffentlicht in: | American journal of medical genetics 1985-05, Vol.21 (1), p.119-122 |
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| container_title | American journal of medical genetics |
| container_volume | 21 |
| creator | Der Kaloustian, Vazken M. Ratl, Habib Malouf, Joe Hatem, Joe Slim, Michel Tomeh, Antoine Khouri, Joseph Kutayli, Farid Opitz, John M. Reynolds, James F. |
| description | We present two sisters with tetralogy of Fallot and pulmonary valve atresia. Both had identical anatomical findings as seen at cardiac catheterization and angiography and verified operatively, with, in particular, identical bronchial circulation and pulmonary valve structure. The parents are first cousins and there is no history of other affected relatives. We suggest that this is a specific, recessively inherited type of tetralogy of Fallot. |
| doi_str_mv | 10.1002/ajmg.1320210117 |
| format | Article |
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Both had identical anatomical findings as seen at cardiac catheterization and angiography and verified operatively, with, in particular, identical bronchial circulation and pulmonary valve structure. The parents are first cousins and there is no history of other affected relatives. We suggest that this is a specific, recessively inherited type of tetralogy of Fallot.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320210117</identifier><identifier>PMID: 4003436</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>autosomal recessive inheritance ; Biological and medical sciences ; Cardiology. Vascular system ; Child ; Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava ; Consanguinity ; Female ; Genes, Recessive ; Heart ; Humans ; Male ; Medical sciences ; parental consanguinity ; pulmonary atresia ; Pulmonary Valve - abnormalities ; tetralogy of Fallot ; Tetralogy of Fallot - genetics</subject><ispartof>American journal of medical genetics, 1985-05, Vol.21 (1), p.119-122</ispartof><rights>Copyright © 1985 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1985 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4427-bfeb16931eb2b320ceeb780ddbd6b704755ad1dc87bd1185ecec36e95b44ed073</citedby><cites>FETCH-LOGICAL-c4427-bfeb16931eb2b320ceeb780ddbd6b704755ad1dc87bd1185ecec36e95b44ed073</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=9148139$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/4003436$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Der Kaloustian, Vazken M.</creatorcontrib><creatorcontrib>Ratl, Habib</creatorcontrib><creatorcontrib>Malouf, Joe</creatorcontrib><creatorcontrib>Hatem, Joe</creatorcontrib><creatorcontrib>Slim, Michel</creatorcontrib><creatorcontrib>Tomeh, Antoine</creatorcontrib><creatorcontrib>Khouri, Joseph</creatorcontrib><creatorcontrib>Kutayli, Farid</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</creatorcontrib><title>Tetralogy of Fallot with pulmonary atresia in siblings</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We present two sisters with tetralogy of Fallot and pulmonary valve atresia. Both had identical anatomical findings as seen at cardiac catheterization and angiography and verified operatively, with, in particular, identical bronchial circulation and pulmonary valve structure. The parents are first cousins and there is no history of other affected relatives. We suggest that this is a specific, recessively inherited type of tetralogy of Fallot.</description><subject>autosomal recessive inheritance</subject><subject>Biological and medical sciences</subject><subject>Cardiology. Vascular system</subject><subject>Child</subject><subject>Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava</subject><subject>Consanguinity</subject><subject>Female</subject><subject>Genes, Recessive</subject><subject>Heart</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>parental consanguinity</subject><subject>pulmonary atresia</subject><subject>Pulmonary Valve - abnormalities</subject><subject>tetralogy of Fallot</subject><subject>Tetralogy of Fallot - genetics</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1985</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1P3DAQhq2qFSzQc09IOVTcAp7YsRNxQgiWr7YSWkRvlu1MtgYnWeys6P57jHa1VU-c5jDPOx8PId-AHgOlxYl-6ubHwApaAAWQn8gEaC3yShTVZzKhwKtcFnW9S_ZifKIJ4VWxQ3Y4pYwzMSFihmPQfpivsqHNLrX3w5i9uvFPtlj6buh1WGV6DBidzlyfRWe86-fxgHxptY_4dVP3ycPlxez8Kr_7Nb0-P7vLLeeFzE2LBkTNAE1h0pEW0ciKNo1phJGUy7LUDTS2kqYBqEq0aJnAujScY0Ml2ydH67mLMLwsMY6qc9Gi97rHYRmVFMA5lOWHIHBgdQV1Ak_WoA1DjAFbtQiuS28qoOpdqXpXqv4pTYnDzeil6bDZ8huHqf9909fRat8G3VsXt1idlKfdCTtdY6_O4-qjrers5sf0vyPyddrFEf9u0zo8KyGZLNXjz6mazZi8v_1NVcneAEthnrE</recordid><startdate>198505</startdate><enddate>198505</enddate><creator>Der Kaloustian, Vazken M.</creator><creator>Ratl, Habib</creator><creator>Malouf, Joe</creator><creator>Hatem, Joe</creator><creator>Slim, Michel</creator><creator>Tomeh, Antoine</creator><creator>Khouri, Joseph</creator><creator>Kutayli, Farid</creator><creator>Opitz, John M.</creator><creator>Reynolds, James F.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>198505</creationdate><title>Tetralogy of Fallot with pulmonary atresia in siblings</title><author>Der Kaloustian, Vazken M. ; Ratl, Habib ; Malouf, Joe ; Hatem, Joe ; Slim, Michel ; Tomeh, Antoine ; Khouri, Joseph ; Kutayli, Farid ; Opitz, John M. ; Reynolds, James F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4427-bfeb16931eb2b320ceeb780ddbd6b704755ad1dc87bd1185ecec36e95b44ed073</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1985</creationdate><topic>autosomal recessive inheritance</topic><topic>Biological and medical sciences</topic><topic>Cardiology. Vascular system</topic><topic>Child</topic><topic>Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava</topic><topic>Consanguinity</topic><topic>Female</topic><topic>Genes, Recessive</topic><topic>Heart</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>parental consanguinity</topic><topic>pulmonary atresia</topic><topic>Pulmonary Valve - abnormalities</topic><topic>tetralogy of Fallot</topic><topic>Tetralogy of Fallot - genetics</topic><toplevel>online_resources</toplevel><creatorcontrib>Der Kaloustian, Vazken M.</creatorcontrib><creatorcontrib>Ratl, Habib</creatorcontrib><creatorcontrib>Malouf, Joe</creatorcontrib><creatorcontrib>Hatem, Joe</creatorcontrib><creatorcontrib>Slim, Michel</creatorcontrib><creatorcontrib>Tomeh, Antoine</creatorcontrib><creatorcontrib>Khouri, Joseph</creatorcontrib><creatorcontrib>Kutayli, Farid</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Der Kaloustian, Vazken M.</au><au>Ratl, Habib</au><au>Malouf, Joe</au><au>Hatem, Joe</au><au>Slim, Michel</au><au>Tomeh, Antoine</au><au>Khouri, Joseph</au><au>Kutayli, Farid</au><au>Opitz, John M.</au><au>Reynolds, James F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Tetralogy of Fallot with pulmonary atresia in siblings</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. 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| subjects | autosomal recessive inheritance Biological and medical sciences Cardiology. Vascular system Child Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava Consanguinity Female Genes, Recessive Heart Humans Male Medical sciences parental consanguinity pulmonary atresia Pulmonary Valve - abnormalities tetralogy of Fallot Tetralogy of Fallot - genetics |
| title | Tetralogy of Fallot with pulmonary atresia in siblings |
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