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Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease, characterized by the presence of unexplained left ventricular hypertrophy. This condition is often associated with electrocardiographic abnormalities including QTc prolongation occurring in 13% of patients. The main explanation for...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10113437/ https://www.ncbi.nlm.nih.gov/pubmed/37089884 http://dx.doi.org/10.3389/fcvm.2023.1112759 |
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author | Cava, Francesco Micolonghi, Caterina Musumeci, Maria Beatrice Petrucci, Simona Savio, Camilla Fabiani, Marco Tini, Giacomo Germani, Aldo Libi, Fabio Rossi, Carla Visco, Vincenzo Pizzuti, Antonio Volpe, Massimo Autore, Camillo Rubattu, Speranza Piane, Maria |
author_facet | Cava, Francesco Micolonghi, Caterina Musumeci, Maria Beatrice Petrucci, Simona Savio, Camilla Fabiani, Marco Tini, Giacomo Germani, Aldo Libi, Fabio Rossi, Carla Visco, Vincenzo Pizzuti, Antonio Volpe, Massimo Autore, Camillo Rubattu, Speranza Piane, Maria |
author_sort | Cava, Francesco |
collection | PubMed |
description | Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease, characterized by the presence of unexplained left ventricular hypertrophy. This condition is often associated with electrocardiographic abnormalities including QTc prolongation occurring in 13% of patients. The main explanation for prolonged QTc in HCM is myocardial hypertrophy and the related structural damage. However, other mechanisms, including long QT syndrome (LQTS) genes mutations, may be involved. In the present study we explored the hypothesis of a distinct genetic basis underlying QTc prolongation in HCM by investigating the potential co-inheritance of pathogenic gene variants associated with LQTS and HCM. For this purpose, starting from a cohort of 150 HCM patients carrying pathogenic variants in sarcomere genes, we selected 25 patients carrying a QTc prolongation unexplained by any other cause. The QTc was considered prolonged if greater than 450 ms in males and greater than 470 ms in females. The NGS analysis was performed with Illumina TrueSight Cardio panel genes on Illumina MiniSeq platform. We identified pathogenic/likely pathogenic variants in the KCNQ1 in two patients (c.1781G > A, p. Arg594Gln; c.532G > A, p. Ala178Thr) (8%). Variants of uncertain significance were identified in SCN5A, KCNJ5, AKAP9 and ANK2 in four patients (16%). Although the results are limited by the small number of patients included in the study, they highlight a minor contribution of LQTS genes for QTc prolongation in HCM patients. The screening for ion channel genes mutations may be considered in HCM patients with prolonged QTc unexplained by any other cause. This in-depth molecular diagnosis may contribute to improve risk stratification and treatment planning. |
format | Online Article Text |
id | pubmed-10113437 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-101134372023-04-20 Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease? Cava, Francesco Micolonghi, Caterina Musumeci, Maria Beatrice Petrucci, Simona Savio, Camilla Fabiani, Marco Tini, Giacomo Germani, Aldo Libi, Fabio Rossi, Carla Visco, Vincenzo Pizzuti, Antonio Volpe, Massimo Autore, Camillo Rubattu, Speranza Piane, Maria Front Cardiovasc Med Cardiovascular Medicine Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease, characterized by the presence of unexplained left ventricular hypertrophy. This condition is often associated with electrocardiographic abnormalities including QTc prolongation occurring in 13% of patients. The main explanation for prolonged QTc in HCM is myocardial hypertrophy and the related structural damage. However, other mechanisms, including long QT syndrome (LQTS) genes mutations, may be involved. In the present study we explored the hypothesis of a distinct genetic basis underlying QTc prolongation in HCM by investigating the potential co-inheritance of pathogenic gene variants associated with LQTS and HCM. For this purpose, starting from a cohort of 150 HCM patients carrying pathogenic variants in sarcomere genes, we selected 25 patients carrying a QTc prolongation unexplained by any other cause. The QTc was considered prolonged if greater than 450 ms in males and greater than 470 ms in females. The NGS analysis was performed with Illumina TrueSight Cardio panel genes on Illumina MiniSeq platform. We identified pathogenic/likely pathogenic variants in the KCNQ1 in two patients (c.1781G > A, p. Arg594Gln; c.532G > A, p. Ala178Thr) (8%). Variants of uncertain significance were identified in SCN5A, KCNJ5, AKAP9 and ANK2 in four patients (16%). Although the results are limited by the small number of patients included in the study, they highlight a minor contribution of LQTS genes for QTc prolongation in HCM patients. The screening for ion channel genes mutations may be considered in HCM patients with prolonged QTc unexplained by any other cause. This in-depth molecular diagnosis may contribute to improve risk stratification and treatment planning. Frontiers Media S.A. 2023-04-05 /pmc/articles/PMC10113437/ /pubmed/37089884 http://dx.doi.org/10.3389/fcvm.2023.1112759 Text en © 2023 Cava, Micolonghi, Musumeci, Petrucci, Savio, Fabiani, Tini, Germani, Libi, Rossi, Visco, Pizzuti, Volpe, Autore, Rubattu and Piane. 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) (https://creativecommons.org/licenses/by/4.0/) . 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 | Cardiovascular Medicine Cava, Francesco Micolonghi, Caterina Musumeci, Maria Beatrice Petrucci, Simona Savio, Camilla Fabiani, Marco Tini, Giacomo Germani, Aldo Libi, Fabio Rossi, Carla Visco, Vincenzo Pizzuti, Antonio Volpe, Massimo Autore, Camillo Rubattu, Speranza Piane, Maria Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease? |
title | Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease? |
title_full | Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease? |
title_fullStr | Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease? |
title_full_unstemmed | Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease? |
title_short | Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease? |
title_sort | long qtc in hypertrophic cardiomyopathy: a consequence of structural myocardial damage or a distinct genetic disease? |
topic | Cardiovascular Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10113437/ https://www.ncbi.nlm.nih.gov/pubmed/37089884 http://dx.doi.org/10.3389/fcvm.2023.1112759 |
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