Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report
BackgroundLeft ventricular non-compaction (LVNC) is an abnormality of the myocardium, characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. Long QT syndrome (LQTS) is a cardiac ion channelopathy presenting with a prolonged QT interval on resting electrocardiogram...
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-08-01
|
| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.970240/full |
| _version_ | 1818172844163465216 |
|---|---|
| author | Thomas Caiffa Antimo Tessitore Loira Leoni Elena Reffo Daniela Chicco Biancamaria D'Agata Mottolese Elisa Rubinato Giorgia Girotto Giorgia Girotto Stefania Lenarduzzi Egidio Barbi Egidio Barbi Marco Bobbo Giovanni Di Salvo |
| author_facet | Thomas Caiffa Antimo Tessitore Loira Leoni Elena Reffo Daniela Chicco Biancamaria D'Agata Mottolese Elisa Rubinato Giorgia Girotto Giorgia Girotto Stefania Lenarduzzi Egidio Barbi Egidio Barbi Marco Bobbo Giovanni Di Salvo |
| author_sort | Thomas Caiffa |
| collection | DOAJ |
| description | BackgroundLeft ventricular non-compaction (LVNC) is an abnormality of the myocardium, characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. Long QT syndrome (LQTS) is a cardiac ion channelopathy presenting with a prolonged QT interval on resting electrocardiogram and is associated with increased susceptibility to sudden death. The association between LVNC and LQTS is uncommon.Case presentationWe report an Italian family with a novel pathogenic KCNH2 variant who presented with clinical features of LVNC and LQTS. The proband came to our attention after two syncopal episodes without prodromal symptoms. His ECG showed QTc prolongation and deep T wave inversion in anterior leads, and the echocardiogram fulfilled LVNC criteria. After that, also his sister was found to have LQTS and LVNC, while his father only presented LQTS.ConclusionsPhysicians should be aware of the possible association between LVNC and LQTS. Even if this association is rare, patients with LVNC should be investigated for LQTS to prevent possible severe or even life-threatening arrhythmic episodes. |
| first_indexed | 2024-12-11T19:19:04Z |
| format | Article |
| id | doaj.art-9ac5dd9f1a3d401c9050575d71b10466 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-11T19:19:04Z |
| publishDate | 2022-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-9ac5dd9f1a3d401c9050575d71b104662022-12-22T00:53:35ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602022-08-011010.3389/fped.2022.970240970240Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case reportThomas Caiffa0Antimo Tessitore1Loira Leoni2Elena Reffo3Daniela Chicco4Biancamaria D'Agata Mottolese5Elisa Rubinato6Giorgia Girotto7Giorgia Girotto8Stefania Lenarduzzi9Egidio Barbi10Egidio Barbi11Marco Bobbo12Giovanni Di Salvo13Department of Paediatrics, Institute for Maternal and Child Health IRCCS ‘Burlo Garofolo', Trieste, ItalyDepartment of Medicine, Surgery and Health Sciences, Department of Paediatrics, University of Trieste, Trieste, ItalyCardiology Clinic, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova Medical School, Padova, ItalyPediatric Cardiology Unit, Department of Woman and Child's Health, University of Padova Medical School, Padova, ItalyDepartment of Paediatrics, Institute for Maternal and Child Health IRCCS ‘Burlo Garofolo', Trieste, ItalyDepartment of Paediatrics, Institute for Maternal and Child Health IRCCS ‘Burlo Garofolo', Trieste, ItalyMedical Genetics, Institute for Maternal and Child Health – IRCCS “Burlo Garofolo,”Trieste, ItalyMedical Genetics, Institute for Maternal and Child Health – IRCCS “Burlo Garofolo,”Trieste, ItalyDepartment of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, ItalyMedical Genetics, Institute for Maternal and Child Health – IRCCS “Burlo Garofolo,”Trieste, ItalyDepartment of Paediatrics, Institute for Maternal and Child Health IRCCS ‘Burlo Garofolo', Trieste, ItalyDepartment of Medicine, Surgery and Health Sciences, Department of Paediatrics, University of Trieste, Trieste, ItalyDepartment of Paediatrics, Institute for Maternal and Child Health IRCCS ‘Burlo Garofolo', Trieste, ItalyPediatric Cardiology Unit, Department of Woman and Child's Health, University of Padova Medical School, Padova, ItalyBackgroundLeft ventricular non-compaction (LVNC) is an abnormality of the myocardium, characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. Long QT syndrome (LQTS) is a cardiac ion channelopathy presenting with a prolonged QT interval on resting electrocardiogram and is associated with increased susceptibility to sudden death. The association between LVNC and LQTS is uncommon.Case presentationWe report an Italian family with a novel pathogenic KCNH2 variant who presented with clinical features of LVNC and LQTS. The proband came to our attention after two syncopal episodes without prodromal symptoms. His ECG showed QTc prolongation and deep T wave inversion in anterior leads, and the echocardiogram fulfilled LVNC criteria. After that, also his sister was found to have LQTS and LVNC, while his father only presented LQTS.ConclusionsPhysicians should be aware of the possible association between LVNC and LQTS. Even if this association is rare, patients with LVNC should be investigated for LQTS to prevent possible severe or even life-threatening arrhythmic episodes.https://www.frontiersin.org/articles/10.3389/fped.2022.970240/fullKCNH2 variantleft ventricular non-compactionlong QT syndromeLQTSLVNC |
| spellingShingle | Thomas Caiffa Antimo Tessitore Loira Leoni Elena Reffo Daniela Chicco Biancamaria D'Agata Mottolese Elisa Rubinato Giorgia Girotto Giorgia Girotto Stefania Lenarduzzi Egidio Barbi Egidio Barbi Marco Bobbo Giovanni Di Salvo Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report Frontiers in Pediatrics KCNH2 variant left ventricular non-compaction long QT syndrome LQTS LVNC |
| title | Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report |
| title_full | Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report |
| title_fullStr | Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report |
| title_full_unstemmed | Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report |
| title_short | Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report |
| title_sort | long qt syndrome and left ventricular non compaction in a family with kcnh2 mutation a case report |
| topic | KCNH2 variant left ventricular non-compaction long QT syndrome LQTS LVNC |
| url | https://www.frontiersin.org/articles/10.3389/fped.2022.970240/full |
| work_keys_str_mv | AT thomascaiffa longqtsyndromeandleftventricularnoncompactioninafamilywithkcnh2mutationacasereport AT antimotessitore longqtsyndromeandleftventricularnoncompactioninafamilywithkcnh2mutationacasereport AT loiraleoni longqtsyndromeandleftventricularnoncompactioninafamilywithkcnh2mutationacasereport AT elenareffo longqtsyndromeandleftventricularnoncompactioninafamilywithkcnh2mutationacasereport AT danielachicco longqtsyndromeandleftventricularnoncompactioninafamilywithkcnh2mutationacasereport AT biancamariadagatamottolese longqtsyndromeandleftventricularnoncompactioninafamilywithkcnh2mutationacasereport AT elisarubinato longqtsyndromeandleftventricularnoncompactioninafamilywithkcnh2mutationacasereport AT giorgiagirotto longqtsyndromeandleftventricularnoncompactioninafamilywithkcnh2mutationacasereport AT giorgiagirotto longqtsyndromeandleftventricularnoncompactioninafamilywithkcnh2mutationacasereport AT stefanialenarduzzi longqtsyndromeandleftventricularnoncompactioninafamilywithkcnh2mutationacasereport AT egidiobarbi longqtsyndromeandleftventricularnoncompactioninafamilywithkcnh2mutationacasereport AT egidiobarbi longqtsyndromeandleftventricularnoncompactioninafamilywithkcnh2mutationacasereport AT marcobobbo longqtsyndromeandleftventricularnoncompactioninafamilywithkcnh2mutationacasereport AT giovannidisalvo longqtsyndromeandleftventricularnoncompactioninafamilywithkcnh2mutationacasereport |