Cargando…

Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses

Background: Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders that can damage various organs, including the heart. Cardiac abnormalities have been observed in patients with all MPS types, with the most documented abnormalities being cardiac valvular regurgitation and ste...

Descripción completa

Detalles Bibliográficos
Autores principales: Lin, Hsiang-Yu, Chuang, Chih-Kuang, Lee, Chung-Lin, Chen, Ming-Ren, Sung, Kuo-Tzu, Lin, Shan-Miao, Hou, Charles Jia-Yin, Niu, Dau-Ming, Chang, Tung-Ming, Hung, Chung-Lieh, Lin, Shuan-Pei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168914/
https://www.ncbi.nlm.nih.gov/pubmed/31979324
http://dx.doi.org/10.3390/diagnostics10020062
_version_ 1783523741324541952
author Lin, Hsiang-Yu
Chuang, Chih-Kuang
Lee, Chung-Lin
Chen, Ming-Ren
Sung, Kuo-Tzu
Lin, Shan-Miao
Hou, Charles Jia-Yin
Niu, Dau-Ming
Chang, Tung-Ming
Hung, Chung-Lieh
Lin, Shuan-Pei
author_facet Lin, Hsiang-Yu
Chuang, Chih-Kuang
Lee, Chung-Lin
Chen, Ming-Ren
Sung, Kuo-Tzu
Lin, Shan-Miao
Hou, Charles Jia-Yin
Niu, Dau-Ming
Chang, Tung-Ming
Hung, Chung-Lieh
Lin, Shuan-Pei
author_sort Lin, Hsiang-Yu
collection PubMed
description Background: Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders that can damage various organs, including the heart. Cardiac abnormalities have been observed in patients with all MPS types, with the most documented abnormalities being cardiac valvular regurgitation and stenosis, valvular thickening, and hypertrophic cardiomyopathy. Methods: Cardiac features of 53 Taiwanese patients with MPS (31 men and 22 women; age range 1.1–34.9 years; seven with MPS I, 16 with MPS II, nine with MPS III, 14 with MPS IVA, and seven with MPS VI) were evaluated using two-dimensional speckle-tracking echocardiography and conventional echocardiography. Results: The mean z scores of the global longitudinal strain (GLS), left ventricular mass index (LVMI), interventricular septum diameter in diastole (IVSd), left ventricular posterior wall diameter in diastole (LVPWd), and aortic diameter of the 53 patients with MPS were 1.71, 0.35, 1.66, 1.03, and 3.15, respectively. Furthermore, z scores >2 were identified in 45%, 13%, 40%, 13%, and 70% of the GLS, LVMI, IVSd, LVPWd, and aortic diameter, respectively. The most severe GLS was observed in those with MPS VI, followed by in those with MPS II and MPS I. The GLS z score was positively correlated with the LVMI z score (p < 0.01). Moreover, diastolic dysfunction (reversed ratio between early and late (atrial) ventricular filling velocity (E/A ratio < 1)) was identified in 12 patients (23%). Ejection and shortening fractions were abnormal in four (8%) and seven (13%) patients, respectively. Mitral regurgitation (MR) (92%) was the most common valvular heart disease, followed by aortic regurgitation (AR) (57%), mitral stenosis (MS) (21%), and aortic stenosis (AS) (15%). The z scores of the GLS and LVMI and severity scores of the MS, MR, AS, and AR were all positively correlated with increasing age (p < 0.05). Twenty patients (38%) had a left ventricular remodeling pattern. Conclusions: The most significant left ventricular myocardial deformation, hypertrophy and valvular heart disease were observed in the patients with MPS VI, II, and I, followed by those with MPS IV; in contrast, patients with MPS III had the mildest manifestations. Cardiac abnormalities in patients with MPS worsened with increasing age in accordance with the progressive nature of this disease.
format Online
Article
Text
id pubmed-7168914
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-71689142020-04-20 Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses Lin, Hsiang-Yu Chuang, Chih-Kuang Lee, Chung-Lin Chen, Ming-Ren Sung, Kuo-Tzu Lin, Shan-Miao Hou, Charles Jia-Yin Niu, Dau-Ming Chang, Tung-Ming Hung, Chung-Lieh Lin, Shuan-Pei Diagnostics (Basel) Article Background: Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders that can damage various organs, including the heart. Cardiac abnormalities have been observed in patients with all MPS types, with the most documented abnormalities being cardiac valvular regurgitation and stenosis, valvular thickening, and hypertrophic cardiomyopathy. Methods: Cardiac features of 53 Taiwanese patients with MPS (31 men and 22 women; age range 1.1–34.9 years; seven with MPS I, 16 with MPS II, nine with MPS III, 14 with MPS IVA, and seven with MPS VI) were evaluated using two-dimensional speckle-tracking echocardiography and conventional echocardiography. Results: The mean z scores of the global longitudinal strain (GLS), left ventricular mass index (LVMI), interventricular septum diameter in diastole (IVSd), left ventricular posterior wall diameter in diastole (LVPWd), and aortic diameter of the 53 patients with MPS were 1.71, 0.35, 1.66, 1.03, and 3.15, respectively. Furthermore, z scores >2 were identified in 45%, 13%, 40%, 13%, and 70% of the GLS, LVMI, IVSd, LVPWd, and aortic diameter, respectively. The most severe GLS was observed in those with MPS VI, followed by in those with MPS II and MPS I. The GLS z score was positively correlated with the LVMI z score (p < 0.01). Moreover, diastolic dysfunction (reversed ratio between early and late (atrial) ventricular filling velocity (E/A ratio < 1)) was identified in 12 patients (23%). Ejection and shortening fractions were abnormal in four (8%) and seven (13%) patients, respectively. Mitral regurgitation (MR) (92%) was the most common valvular heart disease, followed by aortic regurgitation (AR) (57%), mitral stenosis (MS) (21%), and aortic stenosis (AS) (15%). The z scores of the GLS and LVMI and severity scores of the MS, MR, AS, and AR were all positively correlated with increasing age (p < 0.05). Twenty patients (38%) had a left ventricular remodeling pattern. Conclusions: The most significant left ventricular myocardial deformation, hypertrophy and valvular heart disease were observed in the patients with MPS VI, II, and I, followed by those with MPS IV; in contrast, patients with MPS III had the mildest manifestations. Cardiac abnormalities in patients with MPS worsened with increasing age in accordance with the progressive nature of this disease. MDPI 2020-01-23 /pmc/articles/PMC7168914/ /pubmed/31979324 http://dx.doi.org/10.3390/diagnostics10020062 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Lin, Hsiang-Yu
Chuang, Chih-Kuang
Lee, Chung-Lin
Chen, Ming-Ren
Sung, Kuo-Tzu
Lin, Shan-Miao
Hou, Charles Jia-Yin
Niu, Dau-Ming
Chang, Tung-Ming
Hung, Chung-Lieh
Lin, Shuan-Pei
Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses
title Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses
title_full Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses
title_fullStr Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses
title_full_unstemmed Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses
title_short Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses
title_sort cardiac evaluation using two-dimensional speckle-tracking echocardiography and conventional echocardiography in taiwanese patients with mucopolysaccharidoses
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168914/
https://www.ncbi.nlm.nih.gov/pubmed/31979324
http://dx.doi.org/10.3390/diagnostics10020062
work_keys_str_mv AT linhsiangyu cardiacevaluationusingtwodimensionalspeckletrackingechocardiographyandconventionalechocardiographyintaiwanesepatientswithmucopolysaccharidoses
AT chuangchihkuang cardiacevaluationusingtwodimensionalspeckletrackingechocardiographyandconventionalechocardiographyintaiwanesepatientswithmucopolysaccharidoses
AT leechunglin cardiacevaluationusingtwodimensionalspeckletrackingechocardiographyandconventionalechocardiographyintaiwanesepatientswithmucopolysaccharidoses
AT chenmingren cardiacevaluationusingtwodimensionalspeckletrackingechocardiographyandconventionalechocardiographyintaiwanesepatientswithmucopolysaccharidoses
AT sungkuotzu cardiacevaluationusingtwodimensionalspeckletrackingechocardiographyandconventionalechocardiographyintaiwanesepatientswithmucopolysaccharidoses
AT linshanmiao cardiacevaluationusingtwodimensionalspeckletrackingechocardiographyandconventionalechocardiographyintaiwanesepatientswithmucopolysaccharidoses
AT houcharlesjiayin cardiacevaluationusingtwodimensionalspeckletrackingechocardiographyandconventionalechocardiographyintaiwanesepatientswithmucopolysaccharidoses
AT niudauming cardiacevaluationusingtwodimensionalspeckletrackingechocardiographyandconventionalechocardiographyintaiwanesepatientswithmucopolysaccharidoses
AT changtungming cardiacevaluationusingtwodimensionalspeckletrackingechocardiographyandconventionalechocardiographyintaiwanesepatientswithmucopolysaccharidoses
AT hungchunglieh cardiacevaluationusingtwodimensionalspeckletrackingechocardiographyandconventionalechocardiographyintaiwanesepatientswithmucopolysaccharidoses
AT linshuanpei cardiacevaluationusingtwodimensionalspeckletrackingechocardiographyandconventionalechocardiographyintaiwanesepatientswithmucopolysaccharidoses