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Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report
BACKGROUND: Left 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 electrocardiogr...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386155/ https://www.ncbi.nlm.nih.gov/pubmed/35989994 http://dx.doi.org/10.3389/fped.2022.970240 |
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author | Caiffa, Thomas Tessitore, Antimo Leoni, Loira Reffo, Elena Chicco, Daniela D'Agata Mottolese, Biancamaria Rubinato, Elisa Girotto, Giorgia Lenarduzzi, Stefania Barbi, Egidio Bobbo, Marco Di Salvo, Giovanni |
author_facet | Caiffa, Thomas Tessitore, Antimo Leoni, Loira Reffo, Elena Chicco, Daniela D'Agata Mottolese, Biancamaria Rubinato, Elisa Girotto, Giorgia Lenarduzzi, Stefania Barbi, Egidio Bobbo, Marco Di Salvo, Giovanni |
author_sort | Caiffa, Thomas |
collection | PubMed |
description | BACKGROUND: Left 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 PRESENTATION: We 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. CONCLUSIONS: Physicians 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. |
format | Online Article Text |
id | pubmed-9386155 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-93861552022-08-19 Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report Caiffa, Thomas Tessitore, Antimo Leoni, Loira Reffo, Elena Chicco, Daniela D'Agata Mottolese, Biancamaria Rubinato, Elisa Girotto, Giorgia Lenarduzzi, Stefania Barbi, Egidio Bobbo, Marco Di Salvo, Giovanni Front Pediatr Pediatrics BACKGROUND: Left 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 PRESENTATION: We 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. CONCLUSIONS: Physicians 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. Frontiers Media S.A. 2022-08-04 /pmc/articles/PMC9386155/ /pubmed/35989994 http://dx.doi.org/10.3389/fped.2022.970240 Text en Copyright © 2022 Caiffa, Tessitore, Leoni, Reffo, Chicco, D'Agata Mottolese, Rubinato, Girotto, Lenarduzzi, Barbi, Bobbo and Di Salvo. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Caiffa, Thomas Tessitore, Antimo Leoni, Loira Reffo, Elena Chicco, Daniela D'Agata Mottolese, Biancamaria Rubinato, Elisa Girotto, Giorgia Lenarduzzi, Stefania Barbi, Egidio Bobbo, Marco Di Salvo, Giovanni Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report |
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 | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386155/ https://www.ncbi.nlm.nih.gov/pubmed/35989994 http://dx.doi.org/10.3389/fped.2022.970240 |
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