Dataset Information

Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy.

ABSTRACT:

Background

Whether mitral leaflet elongation is a primary phenotype of hypertrophic cardiomyopathy (HCM) is controversial. We investigated the genetic relevance and determinants of mitral leaflet size by performing extensive gene analyses in patients with HCM.

Methods

Anterior mitral leaflet (AML) lengths were measured in HCM patients (n?=?211) and age- and sex-matched controls (n?=?30) using echocardiography with hemodynamic and chamber geometric assessments. We analyzed 82 nuclear DNA (8 sarcomeric genes, 74 other HCM-associated genes) and mitochondrial DNA. Cardiac magnetic resonance imaging (CMR) was performed in the 132 HCM patients.

Results

Average indexed AML was significantly longer for HCM than for controls (17.2?±?2.3 vs. 13.3?±?1.6?mm/m², P?2, P?=?0.025). Indexed AML was independently correlated with left atrial wall stress. The thin filament mutation group showed larger average AML (31.9?±?3.8 vs. 29.6?±?3.8?mm, P?=?0.045), but this was not significant with the indexed value. No difference in AML size among subgroups was observed based on the presence of sarcomere protein or mitochondria-related gene variants (P?>?0.05).

Conclusion

AML elongation was a unique finding of HCM. However, the leaflet size was more related to chamber geometry and hypertrophy pattern rather than genetic factors within overt HCM.

SUBMITTER: Chung H

PROVIDER: S-EPMC6819388 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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Publications

Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy.

Chung Hyemoon H Kim Yoonjung Y Park Chul-Hwan CH Kim Jong-Youn JY Min Pil-Ki PK Yoon Young Won YW Kim Tae Hoon TH Lee Byoung Kwon BK Hong Bum-Kee BK Rim Se-Joong SJ Kwon Hyuck Moon HM Lee Kyung-A KA Choi Eui-Young EY

Cardiovascular ultrasound 20191028 1

<h4>Background</h4>Whether mitral leaflet elongation is a primary phenotype of hypertrophic cardiomyopathy (HCM) is controversial. We investigated the genetic relevance and determinants of mitral leaflet size by performing extensive gene analyses in patients with HCM.<h4>Methods</h4>Anterior mitral leaflet (AML) lengths were measured in HCM patients (n = 211) and age- and sex-matched controls (n = 30) using echocardiography with hemodynamic and chamber geometric assessments. We analyzed 82 nucle ...[more]

PMID: 31660989

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Project description:BackgroundHypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identified mutations.MethodsAs a part of the international multidisciplinary SILICOFCM project ( www.silicofcm.eu ) the present study evaluated the association between underlying genetic mutations and clinical phenotype in patients with HCM. Only patients with confirmed single pathogenic mutations in either MYBPC3 or MYH7 genes were included in the study and divided into two groups accordingly. The MYBPC3 group was comprised of 48 patients (76%), while the MYH7 group included 15 patients (24%). Each patient underwent clinical examination and echocardiography.ResultsThe most prevalent symptom in patients with MYBPC3 was dyspnea (44%), whereas in patients with MYH7 it was palpitations (33%). The MYBPC3 group had a significantly higher number of patients with a positive family history of HCM (46% vs. 7%; p = 0.014). There was a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p = 0.085). Laboratory analyses revealed normal levels of creatinine (85.5 ± 18.3 vs. 81.3 ± 16.4 µmol/l; p = 0.487) and blood urea nitrogen (10.2 ± 15.6 vs. 6.9 ± 3.9 mmol/l; p = 0.472) which were similar in both groups. The systolic anterior motion presence was significantly more frequent in patients carrying MYH7 mutation (33% vs. 10%; p = 0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p = 0.039). Calcifications of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p = 0.001). The difference in diastolic function, i.e. E/e' ratio between the two groups was also noted (MYBPC3 8.8 ± 3.3, MYH7 13.9 ± 6.9, p = 0.079).ConclusionsMajor findings of the present study corroborate the notion that MYH7 gene mutation patients are presented with more pronounced disease severity than those with MYBPC3.

Project description:BackgroundThe thoracoscopic trans-mitral approach can not only facilitate exposure of the ventricular septum, mitral valve, and subvalvular apparatus, it also enables the surgeons to perform concomitant mitral valve intervention. This study aimed to determine the safety and efficacy of thoracoscopic trans-mitral septal myectomy in elderly patients with hypertrophic obstructive cardiomyopathy (HOCM).MethodsWe reviewed the demographic to clinical characteristics and outcomes of patients who underwent thoracoscopic trans-mitral septal myectomy in our center between April 2019 and April 2021. The population was divided into a younger group (<60 years) and an elderly group (≥60 years).ResultsThere were 46 and 20 patients in the younger and elderly groups, respectively. The majority of patients in the elderly group were female (39.1 vs. 80.0%, P < 0.01). Patients in the elderly group were more likely to be in New York Heart Association Class IV (2.2 vs. 80.0%, P < 0.01). The European System for Cardiac Operation Risk Evaluation II predicted mortality rates were significantly higher (3.97 ± 1.81 vs. 1.62 ± 0.86%, P < 0.01) in the elderly group. In the elderly group, a patient converted to median sternotomy due to left ventricular posterior free wall rupture following septal myectomy and mitral bioprosthetic valve replacement. The patient then underwent double-patch sandwich repair for rupture and mitral mechanical valve replacement and was eventually discharged. All patients in the elderly group were discharged, while one in the younger group died. No patient in the elderly group required permanent pacemaker implantation vs. one in the younger group. Patients in the elderly group were more likely to spend more time in the intensive care unit than those in the younger group (5.44 ± 5.80 days vs. 3.07 ± 2.72, P < 0.05). However, there was no significant intergroup difference in in-hospital mortality or complications. Importantly, the left ventricular outflow tract pressure gradient was significantly decreased from 96.15 ± 32.89 mmHg to 8.2 ± 3.42 mmHg with no residual obstruction in the elderly group. The interventricular septal thickness was significantly decreased from 19.73 ± 3.14 mm to 11.30 ± 2.23 mm. Postoperative mitral regurgitation severity was significantly improved in the elderly group.ConclusionThis study demonstrated that thoracoscopic trans-mitral septal myectomy is a feasible option for selected elderly patients with satisfactory outcomes similar to those of young patients.

Dataset Information

Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy.

Background

Methods

Results

Conclusion

Publications

Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy.

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