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Hong Y, Fan Z, Guo Y, Ma HH, Zeng SZ, Xi HT, Yang J, Luo K, Luo R, Li XP. MYH7 mutation in a pedigree with familial dilated hypertrophic cardiomyopathy: A case report and review of literature. World J Clin Cases 2025; 13:101272. [DOI: 10.12998/wjcc.v13.i15.101272] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/09/2024] [Revised: 11/03/2024] [Accepted: 01/07/2025] [Indexed: 01/21/2025] Open
Abstract
BACKGROUND Hypertrophic cardiomyopathy (HCM) is one of the most prevalent inherited myocardial disorders and is characterized by considerable genetic and phenotypic heterogeneity. A subset of patients with HCM progress to a dilated phase of HCM (DPHCM), which is associated with a poor prognosis; however, the underlying pathogenesis remains inadequately understood.
CASE SUMMARY In this study, we present a case involving a pedigree with familial DPHCM and conduct a retrospective review of patients with DPHCM with identified gene mutations. Through panel sequencing targeting the coding regions of 312 genes associated with inherited cardiomyopathy, a heterozygous missense mutation (c.746G>A, p.Arg249Glu) in the MYH7 gene was identified in the proband (III-5). Sanger sequencing subsequently confirmed this pathogenic mutation in three additional family members (II-4, III-4, and IV-3). A total of 26 well-documented patients with DPHCM were identified in the literature. Patients with DPHCM are commonly middle-aged and male. The mean age of patients with DPHCM was 53.43 ± 12.79 years. Heart failure, dyspnoea, and atrial fibrillation were the most prevalent symptoms observed, accompanied by an average left ventricular end-diastolic size of 58.62 mm.
CONCLUSION Our findings corroborate the pathogenicity of the MYH7 (c.746G>A, p.Arg249Glu) mutation for DPHCM and suggest that the Arg249Gln mutation may be responsible for high mortality.
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Affiliation(s)
- Ying Hong
- Department of Cardiology, Chengdu University of Traditional Chinese Medicine, Chengdu 610075, Sichuan Province, China
| | - Zhen Fan
- Department of Geriatrics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu 610072, Sichuan Province, China
| | - Yi Guo
- Department of Neurology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu 610072, Sichuan Province, China
| | - Hui-Hui Ma
- Medical School, University of Electronic Science and Technology of China, Chengdu 610072, Sichuan Province, China
| | - Sheng-Zhi Zeng
- Department of Cardiology, Guanghan People's Hospital, Deyang 618399, Sichuan Province, China
| | - Hu-Tao Xi
- Department of Cardiology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu 610072, Sichuan Province, China
| | - Jing Yang
- Department of Cardiology, Chengdu University of Traditional Chinese Medicine, Chengdu 610075, Sichuan Province, China
| | - Kai Luo
- Institute of Cardiovascular Diseases & Department of Cardiology, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, Sichuan Province, China
| | - Rong Luo
- Institute of Geriatric Cardiovascular Disease, Chengdu Medical College, Chengdu 610500, Sichuan Province, China
| | - Xiao-Ping Li
- Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu 610072, Sichuan Province, China
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Stolojanu C, Steflea R, Micsescu-Olah AM, Alexandra I, Popoiu A, Doros G. Combined Utility of Speckle Tracking Echocardiography and Cardiac Biomarkers for Early Detection of Anthracycline-Induced Cardiotoxicity in Pediatric Oncology Patients. Biomedicines 2024; 12:2849. [PMID: 39767755 PMCID: PMC11673503 DOI: 10.3390/biomedicines12122849] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/27/2024] [Revised: 12/08/2024] [Accepted: 12/13/2024] [Indexed: 01/11/2025] Open
Abstract
BACKGROUND AND OBJECTIVES Anthracycline chemotherapy is a cornerstone in pediatric oncology but carries a significant risk of cardiotoxicity. The early detection of cardiac dysfunction is crucial for timely intervention. This study aims to evaluate the predictive value of combining speckle tracking echocardiography (STE) parameters with traditional cardiac biomarkers for the early detection of anthracycline-induced cardiotoxicity in pediatric oncology patients. METHODS A retrospective cohort study was conducted, involving 99 pediatric oncology patients undergoing anthracycline therapy and 50 age- and sex-matched healthy controls. Cardiac function was assessed using STE parameters-global longitudinal strain (GLS), Simpson's method of disk ejection fraction (SMOD EF), and myocardial performance index (MPI)-alongside biomarkers including cardiac troponin I (cTnI) and B-type natriuretic peptide (BNP). Assessments were performed at baseline and at 3, 6, and 12 months post-therapy initiation. RESULTS A total of 28.3% of patients developed cardiotoxicity based on the LVEF decrease. Significant differences were observed between oncological patients under anthracycline treatment and healthy controls. Patients had reduced GLS (-16.1 ± 4.7% vs. -19.6 ± 5.1%, p < 0.001), a lower SMOD EF (55.7 ± 6.3% vs. 60.2 ± 6.0%, p < 0.001), and a higher MPI (0.38 ± 0.06 vs. 0.33 ± 0.05, p < 0.001). Elevated cTnI levels were found in patients compared to controls (3.1 ± 0.9 ng/mL vs. 1.3 ± 0.6 ng/mL, p < 0.001). Regression analysis showed that combining GLS, SMOD EF, MPI, and cTnI levels significantly predicted cardiotoxicity (odds ratio = 7.12, 95% CI: 3.04-12.76, p < 0.001). CONCLUSIONS Combining STE parameters with cardiac biomarkers enhances the early detection of anthracycline-induced cardiotoxicity in pediatric oncology patients. This combined assessment may facilitate timely interventions to prevent long-term cardiac complications.
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Affiliation(s)
- Cristiana Stolojanu
- Department of Pediatrics, “Victor Babes” University of Medicine and Pharmacy, Eftimie Murgu Square 2, 300041 Timisoara, Romania; (C.S.); (A.M.M.-O.); (I.A.); (A.P.); (G.D.)
| | - Ruxandra Steflea
- Department of Pediatrics, “Victor Babes” University of Medicine and Pharmacy, Eftimie Murgu Square 2, 300041 Timisoara, Romania; (C.S.); (A.M.M.-O.); (I.A.); (A.P.); (G.D.)
- Louis Turcanu Emergency Hospital for Children, Iosif Nemoianu Street 2, 300011 Timisoara, Romania
| | - Andrada Mara Micsescu-Olah
- Department of Pediatrics, “Victor Babes” University of Medicine and Pharmacy, Eftimie Murgu Square 2, 300041 Timisoara, Romania; (C.S.); (A.M.M.-O.); (I.A.); (A.P.); (G.D.)
- Louis Turcanu Emergency Hospital for Children, Iosif Nemoianu Street 2, 300011 Timisoara, Romania
| | - Ioana Alexandra
- Department of Pediatrics, “Victor Babes” University of Medicine and Pharmacy, Eftimie Murgu Square 2, 300041 Timisoara, Romania; (C.S.); (A.M.M.-O.); (I.A.); (A.P.); (G.D.)
| | - Anca Popoiu
- Department of Pediatrics, “Victor Babes” University of Medicine and Pharmacy, Eftimie Murgu Square 2, 300041 Timisoara, Romania; (C.S.); (A.M.M.-O.); (I.A.); (A.P.); (G.D.)
- Louis Turcanu Emergency Hospital for Children, Iosif Nemoianu Street 2, 300011 Timisoara, Romania
| | - Gabriela Doros
- Department of Pediatrics, “Victor Babes” University of Medicine and Pharmacy, Eftimie Murgu Square 2, 300041 Timisoara, Romania; (C.S.); (A.M.M.-O.); (I.A.); (A.P.); (G.D.)
- Louis Turcanu Emergency Hospital for Children, Iosif Nemoianu Street 2, 300011 Timisoara, Romania
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Comprehensive Echocardiography of Left Atrium and Left Ventricle Using Modern Techniques Helps in Better Revealing Atrial Fibrillation in Patients with Hypertrophic Cardiomyopathy. Diagnostics (Basel) 2021; 11:diagnostics11071288. [PMID: 34359371 PMCID: PMC8304227 DOI: 10.3390/diagnostics11071288] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/20/2021] [Revised: 07/10/2021] [Accepted: 07/14/2021] [Indexed: 11/17/2022] Open
Abstract
Atrial fibrillation (AF) is an important arrhythmia in hypertrophic cardiomyopathy (HCM). We aimed to explore whether a complex evaluation of the left ventricle (LV) using modern echocardiography techniques, additionally to the left atrium (LA) boosts the probability of AF diagnosis. Standard echocardiography, 2D and 3D speckle tracking, were performed for LA and LV evaluation in HCM patients and healthy volunteers. Of 128 initially qualified HCM patients, 60 fulfilled included criteria, from which 43 had a history of AF, and 17 were without AF. LA volume index and peak strain, LV ejection fraction, and strains were significant predictors of AF. In addition, 2D global longitudinal strain (GLS) for LV at cut off -16% turned out to be the most accurate predictor of AF (OR 48.00 [95% CI 2.68-859.36], p = 0.001), whereas the combination of LA peak strain ≤ 22% and LV GLS ≥ -16% had the highest discriminatory power (OR 76.36 [95% CI 4.13-1411.36], p = 0.001). AF in HCM patients seems to be LA as well as LV disease. Revealing lower strain for LV, in addition to lower LA strain, may have an important impact on accurate characteristics of HCM patients with AF history.
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Is speckle tracking actually helpful for cardiac resynchronization therapy? J Echocardiogr 2016; 14:53-60. [PMID: 26767529 DOI: 10.1007/s12574-016-0275-7] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/25/2015] [Revised: 12/09/2015] [Accepted: 12/28/2015] [Indexed: 10/22/2022]
Abstract
What is the specific role of echocardiography in cardiac resynchronization therapy (CRT)? CRT has proven to be highly effective for improving symptoms and survival of patients with advanced heart failure (HF) and wide QRS. However, a significant minority of patients do not respond favorably to CRT on the basis of standard clinical selection criteria, including the electrocardiographic QRS width. Subsequently, echocardiographic assessment of left ventricular (LV) dyssynchrony has been considered useful for CRT for selected responders, but findings by multicenter studies suggest that its predictive value was not sufficiently robust to replace routine selection criteria for CRT. A more recent approach, however, using speckle-tracking echocardiography yields more accurate quantification of regional wall contraction. Speckle-tracking approaches have therefore generated a great deal of interest about their clinical applications for CRT. Although reports on speckle tracking have not been included in any recommendations as to whether patients should undergo CRT based on the current guidelines, speckle tracking can play an important supplementary part in CRT on the basis of a case-by-case clinical decision for challenging cases. Here, we review the strengths of speckle-tracking methods, and their current potential for clinical use in CRT.
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Zhang HJ, Wang H, Sun T, Lu MJ, Xu N, Wu WC, Sun X, Wang WG, Lin QW. Assessment of left ventricular twist mechanics by speckle tracking echocardiography reveals association between LV twist and myocardial fibrosis in patients with hypertrophic cardiomyopathy. Int J Cardiovasc Imaging 2014; 30:1539-48. [PMID: 25106760 PMCID: PMC4232740 DOI: 10.1007/s10554-014-0509-6] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/31/2014] [Accepted: 07/29/2014] [Indexed: 11/23/2022]
Abstract
We aimed to investigate whether left ventricular (LV) twist analysis can detect the extent of myocardial fibrosis in patients with hypertrophic cardiomyopathy (HCM). This prospective case–control study recruited 81 consecutive patients with HCM examined between January 2012 and April 2013. Data of 76 patients were analyzed after excluding 5 patients whose echocardiographic images were of poor quality. Healthy volunteers (n = 46) served as controls. Both groups underwent comprehensive echocardiographic examination (i.e., Bas-Rotation, AP-Rotation, LVEF, LADs, IVST, LAVi, E/Em, LVMI, advanced LV-twist analysis by speckle tracking echocardiography) and magnetic resonance imaging. Between-group differences were analyzed by independent t test; logistic regression analysis was performed to identify effect factors. No significant differences were found between baseline characteristics of HCM and control groups (all p > 0.05). HCM patients had significantly higher Bas-Rotation, AP-Rotation, LV Twist, LVEF, LADs, IVST, LAVi, E/Em and LVMI than controls (all p < 0.0001) and significantly lower LVDd and E/A (both p < 0.001). Bas-Rotation, AP-Rotation, LV-Twist, LADs, IVST, LAVi, E/Em and LVMI were significantly higher in HCM patients with fibrosis than in those without fibrosis (p < 0.001), but no significant differences in other echocardiographic parameters were found between those with and without fibrosis. Age, Bas-Rotation, AP-Rotation, LV twist, LADs, IVST, LAVi, E/A, E/Em, and LVMI were significant effect factors for fibrosis. AUROC analysis showed that LV twist had high discriminatory power to detect extent of myocardial fibrosis (AUC 0.996, 95 % CI 0.989–1.004, p < 0.001). Left ventricular twist mechanics are associated with the extent of myocardial fibrosis. LV-twist assessment by STE may be clinically useful.
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Affiliation(s)
- Hong-Ju Zhang
- Department of Ultrasound, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167, Bei Lishi Road, Xicheng District, Beijing, 100037, People's Republic of China
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