Short‐term response to phenytoin sodium in Andersen‐Tawil syndrome‐1 with a cardiac‐dominant phenotype
Background Andersen‐Tawil syndrome (ATS) is a rare familial periodic paralysis that typically also affects the heart and skeletal system. Ventricular arrhythmias (VAs) are profound and difficult to control, but minimally symptomatic. In this report, we describe an atypical phenotype of ATS in two re...
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| Veröffentlicht in: | Pacing and clinical electrophysiology 2019-02, Vol.42 (2), p.201-207 |
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| creator | Rai, Maneesh K. Pai, Rohith Prabhu, Mukund A. Pasha, Syed Waleem Kedambadi, Rakshith C. Kamath, Padmanabh Augustine, Alfred J. Bhavani, Gangham SriLakshmi Girisha, Katta M. |
| description | Background
Andersen‐Tawil syndrome (ATS) is a rare familial periodic paralysis that typically also affects the heart and skeletal system. Ventricular arrhythmias (VAs) are profound and difficult to control, but minimally symptomatic. In this report, we describe an atypical phenotype of ATS in two related families. We also report our experience with phenytoin sodium for the control of resistant VAs in these patients.
Methods and Results
Between 2014 and 2018, seven siblings were diagnosed with ATS on the basis of cardiac arrhythmias and genetic evaluation. Heterozygous mutation with c.431G > C (p.G144A) in exon 2 of KCNJ2 gene was observed in all patients. Characteristic cardiac manifestations were noted in all patients but periodic paralysis or objective neurological involvement was distinctly absent. Phenytoin was considered for control of symptomatic VA in three patients. Intake of oral phenytoin (5 mg/kg/day) for 1 month completely suppressed VA ( |
| doi_str_mv | 10.1111/pace.13569 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2150530874</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2150530874</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3579-73d4b7ace70a0e5f19fb1aa797ae8291f4ebf35c9758dd242839bf6b946c68783</originalsourceid><addsrcrecordid>eNp9kc1KxDAQx4Moun5cfAAJeBGhmmySJjkui18gKKjnkjZTtrJNatKy9OYj-Iw-idFVDx7MZcLw48fM_BE6pOSMpnfemQrOKBO53kATKjjJFBV6E00I5TJTTOkdtBvjMyEkJ1xsox1GBM0V4xPkHhY-9O-vbz2EFgeInXcRcO9xtwA39r5xOHrbDC1Ov5mzECK4xD-aVbPEcXQ2-BZSg-JV0y-wwZUJtjFValnfNs64_svl-7GDfbRVm2WEg--6h54uLx7n19nt3dXNfHabVUxInUlmeSnTWpIYAqKmui6pMVJLA2qqac2hrJmotBTK2imfKqbLOi81z6tcScX20Mna2wX_MkDsi7aJFSyXxoEfYjGlgghGlOQJPf6DPvshuDRdoiSnXGjJEnW6pqrgYwxQF11oWhPGgpLiM4XiM4XiK4UEH30rh7IF-4v-nD0BdA2kG8L4j6q4n80v1tIPDkiW2w</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2174145973</pqid></control><display><type>article</type><title>Short‐term response to phenytoin sodium in Andersen‐Tawil syndrome‐1 with a cardiac‐dominant phenotype</title><source>MEDLINE</source><source>Wiley Journals</source><creator>Rai, Maneesh K. ; Pai, Rohith ; Prabhu, Mukund A. ; Pasha, Syed Waleem ; Kedambadi, Rakshith C. ; Kamath, Padmanabh ; Augustine, Alfred J. ; Bhavani, Gangham SriLakshmi ; Girisha, Katta M.</creator><creatorcontrib>Rai, Maneesh K. ; Pai, Rohith ; Prabhu, Mukund A. ; Pasha, Syed Waleem ; Kedambadi, Rakshith C. ; Kamath, Padmanabh ; Augustine, Alfred J. ; Bhavani, Gangham SriLakshmi ; Girisha, Katta M.</creatorcontrib><description>Background
Andersen‐Tawil syndrome (ATS) is a rare familial periodic paralysis that typically also affects the heart and skeletal system. Ventricular arrhythmias (VAs) are profound and difficult to control, but minimally symptomatic. In this report, we describe an atypical phenotype of ATS in two related families. We also report our experience with phenytoin sodium for the control of resistant VAs in these patients.
Methods and Results
Between 2014 and 2018, seven siblings were diagnosed with ATS on the basis of cardiac arrhythmias and genetic evaluation. Heterozygous mutation with c.431G > C (p.G144A) in exon 2 of KCNJ2 gene was observed in all patients. Characteristic cardiac manifestations were noted in all patients but periodic paralysis or objective neurological involvement was distinctly absent. Phenytoin was considered for control of symptomatic VA in three patients. Intake of oral phenytoin (5 mg/kg/day) for 1 month completely suppressed VA (<1% in 24‐h Holter monitoring) in two patients, and significantly in the third (8% per 24 h) patient. Phenytoin was well‐tolerated in all three patients.
Conclusions
We describe a cardiac‐predominant phenotype in ATS. ATS should be suspected in patients with typical cardiac manifestations even in the absence of periodic paralysis. Our initial experience with short‐term use of phenytoin for control of resistant VAs is encouraging.</description><identifier>ISSN: 0147-8389</identifier><identifier>EISSN: 1540-8159</identifier><identifier>DOI: 10.1111/pace.13569</identifier><identifier>PMID: 30516834</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Adolescent ; Adult ; Algorithms ; Andersen Syndrome - complications ; Andersen Syndrome - genetics ; Andersen's syndrome ; Arrhythmias, Cardiac - drug therapy ; Arrhythmias, Cardiac - etiology ; ATS ; bidirectional VT ; Cardiac arrhythmia ; ectopics ; Female ; Genotype & phenotype ; Heart ; Humans ; KCNJ2 gene ; Male ; Paralysis ; Pedigree ; Phenotype ; Phenotypes ; Phenytoin ; Phenytoin - therapeutic use ; phenytoin sodium ; Potassium channels (inwardly-rectifying) ; Sodium ; Time Factors ; Treatment Outcome ; Ventricle ; ventricular tachycardia ; Young Adult</subject><ispartof>Pacing and clinical electrophysiology, 2019-02, Vol.42 (2), p.201-207</ispartof><rights>2018 Wiley Periodicals, Inc.</rights><rights>2019 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3579-73d4b7ace70a0e5f19fb1aa797ae8291f4ebf35c9758dd242839bf6b946c68783</citedby><cites>FETCH-LOGICAL-c3579-73d4b7ace70a0e5f19fb1aa797ae8291f4ebf35c9758dd242839bf6b946c68783</cites><orcidid>0000-0001-9908-2891 ; 0000-0002-8187-8231</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fpace.13569$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fpace.13569$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30516834$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rai, Maneesh K.</creatorcontrib><creatorcontrib>Pai, Rohith</creatorcontrib><creatorcontrib>Prabhu, Mukund A.</creatorcontrib><creatorcontrib>Pasha, Syed Waleem</creatorcontrib><creatorcontrib>Kedambadi, Rakshith C.</creatorcontrib><creatorcontrib>Kamath, Padmanabh</creatorcontrib><creatorcontrib>Augustine, Alfred J.</creatorcontrib><creatorcontrib>Bhavani, Gangham SriLakshmi</creatorcontrib><creatorcontrib>Girisha, Katta M.</creatorcontrib><title>Short‐term response to phenytoin sodium in Andersen‐Tawil syndrome‐1 with a cardiac‐dominant phenotype</title><title>Pacing and clinical electrophysiology</title><addtitle>Pacing Clin Electrophysiol</addtitle><description>Background
Andersen‐Tawil syndrome (ATS) is a rare familial periodic paralysis that typically also affects the heart and skeletal system. Ventricular arrhythmias (VAs) are profound and difficult to control, but minimally symptomatic. In this report, we describe an atypical phenotype of ATS in two related families. We also report our experience with phenytoin sodium for the control of resistant VAs in these patients.
Methods and Results
Between 2014 and 2018, seven siblings were diagnosed with ATS on the basis of cardiac arrhythmias and genetic evaluation. Heterozygous mutation with c.431G > C (p.G144A) in exon 2 of KCNJ2 gene was observed in all patients. Characteristic cardiac manifestations were noted in all patients but periodic paralysis or objective neurological involvement was distinctly absent. Phenytoin was considered for control of symptomatic VA in three patients. Intake of oral phenytoin (5 mg/kg/day) for 1 month completely suppressed VA (<1% in 24‐h Holter monitoring) in two patients, and significantly in the third (8% per 24 h) patient. Phenytoin was well‐tolerated in all three patients.
Conclusions
We describe a cardiac‐predominant phenotype in ATS. ATS should be suspected in patients with typical cardiac manifestations even in the absence of periodic paralysis. Our initial experience with short‐term use of phenytoin for control of resistant VAs is encouraging.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Algorithms</subject><subject>Andersen Syndrome - complications</subject><subject>Andersen Syndrome - genetics</subject><subject>Andersen's syndrome</subject><subject>Arrhythmias, Cardiac - drug therapy</subject><subject>Arrhythmias, Cardiac - etiology</subject><subject>ATS</subject><subject>bidirectional VT</subject><subject>Cardiac arrhythmia</subject><subject>ectopics</subject><subject>Female</subject><subject>Genotype & phenotype</subject><subject>Heart</subject><subject>Humans</subject><subject>KCNJ2 gene</subject><subject>Male</subject><subject>Paralysis</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Phenytoin</subject><subject>Phenytoin - therapeutic use</subject><subject>phenytoin sodium</subject><subject>Potassium channels (inwardly-rectifying)</subject><subject>Sodium</subject><subject>Time Factors</subject><subject>Treatment Outcome</subject><subject>Ventricle</subject><subject>ventricular tachycardia</subject><subject>Young Adult</subject><issn>0147-8389</issn><issn>1540-8159</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc1KxDAQx4Moun5cfAAJeBGhmmySJjkui18gKKjnkjZTtrJNatKy9OYj-Iw-idFVDx7MZcLw48fM_BE6pOSMpnfemQrOKBO53kATKjjJFBV6E00I5TJTTOkdtBvjMyEkJ1xsox1GBM0V4xPkHhY-9O-vbz2EFgeInXcRcO9xtwA39r5xOHrbDC1Ov5mzECK4xD-aVbPEcXQ2-BZSg-JV0y-wwZUJtjFValnfNs64_svl-7GDfbRVm2WEg--6h54uLx7n19nt3dXNfHabVUxInUlmeSnTWpIYAqKmui6pMVJLA2qqac2hrJmotBTK2imfKqbLOi81z6tcScX20Mna2wX_MkDsi7aJFSyXxoEfYjGlgghGlOQJPf6DPvshuDRdoiSnXGjJEnW6pqrgYwxQF11oWhPGgpLiM4XiM4XiK4UEH30rh7IF-4v-nD0BdA2kG8L4j6q4n80v1tIPDkiW2w</recordid><startdate>201902</startdate><enddate>201902</enddate><creator>Rai, Maneesh K.</creator><creator>Pai, Rohith</creator><creator>Prabhu, Mukund A.</creator><creator>Pasha, Syed Waleem</creator><creator>Kedambadi, Rakshith C.</creator><creator>Kamath, Padmanabh</creator><creator>Augustine, Alfred J.</creator><creator>Bhavani, Gangham SriLakshmi</creator><creator>Girisha, Katta M.</creator><general>Wiley Subscription Services, Inc</general><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>7TK</scope><scope>NAPCQ</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-9908-2891</orcidid><orcidid>https://orcid.org/0000-0002-8187-8231</orcidid></search><sort><creationdate>201902</creationdate><title>Short‐term response to phenytoin sodium in Andersen‐Tawil syndrome‐1 with a cardiac‐dominant phenotype</title><author>Rai, Maneesh K. ; Pai, Rohith ; Prabhu, Mukund A. ; Pasha, Syed Waleem ; Kedambadi, Rakshith C. ; Kamath, Padmanabh ; Augustine, Alfred J. ; Bhavani, Gangham SriLakshmi ; Girisha, Katta M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3579-73d4b7ace70a0e5f19fb1aa797ae8291f4ebf35c9758dd242839bf6b946c68783</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Algorithms</topic><topic>Andersen Syndrome - complications</topic><topic>Andersen Syndrome - genetics</topic><topic>Andersen's syndrome</topic><topic>Arrhythmias, Cardiac - drug therapy</topic><topic>Arrhythmias, Cardiac - etiology</topic><topic>ATS</topic><topic>bidirectional VT</topic><topic>Cardiac arrhythmia</topic><topic>ectopics</topic><topic>Female</topic><topic>Genotype & phenotype</topic><topic>Heart</topic><topic>Humans</topic><topic>KCNJ2 gene</topic><topic>Male</topic><topic>Paralysis</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Phenytoin</topic><topic>Phenytoin - therapeutic use</topic><topic>phenytoin sodium</topic><topic>Potassium channels (inwardly-rectifying)</topic><topic>Sodium</topic><topic>Time Factors</topic><topic>Treatment Outcome</topic><topic>Ventricle</topic><topic>ventricular tachycardia</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rai, Maneesh K.</creatorcontrib><creatorcontrib>Pai, Rohith</creatorcontrib><creatorcontrib>Prabhu, Mukund A.</creatorcontrib><creatorcontrib>Pasha, Syed Waleem</creatorcontrib><creatorcontrib>Kedambadi, Rakshith C.</creatorcontrib><creatorcontrib>Kamath, Padmanabh</creatorcontrib><creatorcontrib>Augustine, Alfred J.</creatorcontrib><creatorcontrib>Bhavani, Gangham SriLakshmi</creatorcontrib><creatorcontrib>Girisha, Katta M.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Pacing and clinical electrophysiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rai, Maneesh K.</au><au>Pai, Rohith</au><au>Prabhu, Mukund A.</au><au>Pasha, Syed Waleem</au><au>Kedambadi, Rakshith C.</au><au>Kamath, Padmanabh</au><au>Augustine, Alfred J.</au><au>Bhavani, Gangham SriLakshmi</au><au>Girisha, Katta M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Short‐term response to phenytoin sodium in Andersen‐Tawil syndrome‐1 with a cardiac‐dominant phenotype</atitle><jtitle>Pacing and clinical electrophysiology</jtitle><addtitle>Pacing Clin Electrophysiol</addtitle><date>2019-02</date><risdate>2019</risdate><volume>42</volume><issue>2</issue><spage>201</spage><epage>207</epage><pages>201-207</pages><issn>0147-8389</issn><eissn>1540-8159</eissn><abstract>Background
Andersen‐Tawil syndrome (ATS) is a rare familial periodic paralysis that typically also affects the heart and skeletal system. Ventricular arrhythmias (VAs) are profound and difficult to control, but minimally symptomatic. In this report, we describe an atypical phenotype of ATS in two related families. We also report our experience with phenytoin sodium for the control of resistant VAs in these patients.
Methods and Results
Between 2014 and 2018, seven siblings were diagnosed with ATS on the basis of cardiac arrhythmias and genetic evaluation. Heterozygous mutation with c.431G > C (p.G144A) in exon 2 of KCNJ2 gene was observed in all patients. Characteristic cardiac manifestations were noted in all patients but periodic paralysis or objective neurological involvement was distinctly absent. Phenytoin was considered for control of symptomatic VA in three patients. Intake of oral phenytoin (5 mg/kg/day) for 1 month completely suppressed VA (<1% in 24‐h Holter monitoring) in two patients, and significantly in the third (8% per 24 h) patient. Phenytoin was well‐tolerated in all three patients.
Conclusions
We describe a cardiac‐predominant phenotype in ATS. ATS should be suspected in patients with typical cardiac manifestations even in the absence of periodic paralysis. Our initial experience with short‐term use of phenytoin for control of resistant VAs is encouraging.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>30516834</pmid><doi>10.1111/pace.13569</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0001-9908-2891</orcidid><orcidid>https://orcid.org/0000-0002-8187-8231</orcidid></addata></record> |
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| ispartof | Pacing and clinical electrophysiology, 2019-02, Vol.42 (2), p.201-207 |
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| subjects | Adolescent Adult Algorithms Andersen Syndrome - complications Andersen Syndrome - genetics Andersen's syndrome Arrhythmias, Cardiac - drug therapy Arrhythmias, Cardiac - etiology ATS bidirectional VT Cardiac arrhythmia ectopics Female Genotype & phenotype Heart Humans KCNJ2 gene Male Paralysis Pedigree Phenotype Phenotypes Phenytoin Phenytoin - therapeutic use phenytoin sodium Potassium channels (inwardly-rectifying) Sodium Time Factors Treatment Outcome Ventricle ventricular tachycardia Young Adult |
| title | Short‐term response to phenytoin sodium in Andersen‐Tawil syndrome‐1 with a cardiac‐dominant phenotype |
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