ID: 6: HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY IN THE SETTING OF SYSTEMIC SCLERODERMA

2016 ◽  
Vol 64 (4) ◽  
pp. 919.1-919
Author(s):  
R Sogomonian ◽  
H Alkhawam ◽  
S Lee ◽  
D Chang ◽  
EA Moradoghli Haftevani
Keyword(s):  
Systemic Sclerosis ◽  
Myocardial Fibrosis ◽  
Hospice Care ◽  
Vital Signs ◽  
Restrictive Cardiomyopathy ◽  
Hypertrophic Obstructive Cardiomyopathy ◽  
Left Ventricular ◽  
Diffuse Fibrosis ◽  
Septal Hypertrophy ◽  
Hypertrophied Ventricle

Restrictive cardiomyopathy has been a common variant seen in systemic sclerosis (SS) with myocardial fibrosis. The association of SS with restrictive cardiomyopathy has well been established, but that with HOCM is not clearly understood. Herein, we report a case of a patient with SS, identified to have both HOCM and myocardial fibrosis.A 54-year-old woman with systemic sclerosis, idiopathic lung disease with moderate pulmonary hypertension, presented with fatigue, decreased appetite and shortness of breath. Vital signs were significant for oxygen saturation of 86% on room air, tachycardia of 117 bpm, and blood pressure of 110/53 mm Hg. Physical examination revealed diffuse rhonchi in all lung fields, malar rash and skin excoriation in bilateral lower extremities without edema. Laboratory studies were significant for elevated brain natriuretic peptide (BNP) of 858 pg/mL. Transthoracic echocardiography revealed left ventricular hypertrophy (LVH) with ejection fraction of 78%. Electrocardiography illustrated LVH. Cardiac magnetic resonance imaging (cMRI) was significant for severe left ventricular cardiac asymmetric septal hypertrophy with outflow obstruction caused by anterior motion of the mitral valve. Cardiac biopsy revealed evidence of diffuse fibrosis, but did not show iron, glycogen, or amyloid depositions.Patient was maintained on mycophenolate mofetil, low dose of methylprednisolone, morphine, clonazepam and transferred to hospice care.Hypertrophic obstructive cardiomyopathy (HOCM) is the most common genetic cardiac disorder with an autosomal dominant transmission. It is characterized by asymmetric LVH out of proportion of systemic after load. The most common cardiac involvement in SS is myocardial fibrosis in a restrictive pattern, while HOCM is rarely seen in SS.Abstract ID: 6 Figure 1Cardiac MRI demonstrating hypertrophied ventricle with fibrosis. This image demonstrates the features of both hypertrophic and restrictive cardiomyopathy.

The Cumulative Effects of the MYH7-V878A and CACNA1C-A1594V Mutations in a Chinese Family with Hypertrophic Cardiomyopathy

Cardiology ◽  
2017 ◽  
Vol 138 (4) ◽  
pp. 228-237 ◽  
Author(s):  
Bo Wang ◽  
Rui-Qi Guo ◽  
Jing Wang ◽  
Fan Yang ◽  
Lei Zuo ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Myocardial Fibrosis ◽  
Cumulative Effect ◽  
Left Ventricular ◽  
Chinese Family ◽  
St Segment ◽  
Asymmetric Septal Hypertrophy ◽  
Second Generation Sequencing ◽  
Septal Hypertrophy ◽  
Generation Sequencing

Aims: We investigated the pathogenesis of MYH7-V878A and CACNA1C-A1594V mutations in a Chinese family with hypertrophic cardiomyopathy. Methods: Clinical, electrocardiographic (ECG), echocardiographic, and cardiac magnetic resonance (CMR) examinations of members of a Chinese family were followed by exon and boarding intron analyses of 96 genes in the proband using second-generation sequencing. We confirmed the mutations by bidirectional Sanger sequencing in the members and in 300 healthy controls. Results: We detected MYH7-V878A and CACNA1C-A1594V mutations in this family. The members with both mutations showed inverted T-waves and ST-segment depression in ECG recordings, severe left ventricular (LV) hypertrophy in echocardiography, and myocardial fibrosis in CMR; subject II-11 did not show late gadolinium enhancement. Among those with only the MYH7-V878A mutation, subject III-7 showed abnormal ECG recordings, asymmetric septal hypertrophy, and myocardial fibrosis, and subjects II-13 and III-15 showed some abnormal repolarization, borderline LV wall thickness, and normal CMR findings. Those with only the CACNA1C-A1594V mutation showed nearly normal readings in all examinations. The members with both mutations displayed more severe LV hypertrophy and elevated LV filling pressure than those with 1 or no mutation (p < 0.05). Conclusion: Our results suggest that the pathogenesis of MYH7-V878A and CACNA1C-A1594V mutations may have a cumulative effect.

scholarly journals Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 281
Author(s):  
Joonhong Park ◽  
Jong-Min Lee ◽  
Jung Sun Cho
Keyword(s):  
Frameshift Mutation ◽  
Phenotypic Diversity ◽  
Restrictive Cardiomyopathy ◽  
Term Treatment ◽  
Left Ventricular ◽  
Exertional Dyspnea ◽  
Korean Family ◽  
Inherited Cardiomyopathy ◽  
Long Term Treatment ◽  
Septal Hypertrophy

Restrictive cardiomyopathy (RCM) is one of the rarest cardiac disorders, with a very poor prognosis, and heart transplantation is the only long-term treatment of choice. We reported that a Korean family presented different cardiomyopathies, such as idiopathic RCM and hypertrophic cardiomyopathy (HCM), caused by the same MYBPC3 mutation in different individuals. A 74-year-old male was admitted for the evaluation of exertional dyspnea, palpitations, and pitting edema in both legs for several months. Transthoracic echocardiography (TTE) showed RCM with biatrial enlargement and pericardial effusion. Cardiac magnetic resonance (CMR) images revealed normal left ventricular chamber size, borderline diffuse left ventricular hypertrophy and very large atria. In contrast to the proband, CMR images showed asymmetric septal hypertrophy of the left ventricle, consistent with a diagnosis of HCM in the proband’s two daughters. Of the five heterozygous variants identified as candidate causes of inherited cardiomyopathy by whole exome sequencing in the proband, Sanger sequencing confirmed the presence of a heterozygous frameshift mutation (NM_000256.3:c.3313_3314insGG; p.Ala1105Glyfs*85) in MYBPC3 in the proband and his affected daughters, but not in his unaffected granddaughter. There is clinical and genetic overlap of HCM with restrictive physiology and RCM, especially when HCM is combined with severe myocardial fibrosis. Family screening with genetic testing and CMR imaging could be excellent tools for the evaluation of idiopathic RCM.

scholarly journals Myocardial native T1 mapping and correlations with clinical and CMR parameters in patients with systemic sclerosis

2021 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
A Meloni ◽  
L Gargani ◽  
C Bruni ◽  
C Cavallaro ◽  
M Gobbo ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Myocardial Fibrosis ◽  
Healthy Subjects ◽  
T1 Mapping ◽  
Cardiac Involvement ◽  
Left Ventricular ◽  
Volume Index ◽  
Imaging Protocol ◽  
Native T1 ◽  
Spin Echo Sequence

Abstract Funding Acknowledgements Type of funding sources: None. Background Systemic sclerosis (SSc) is a connective tissue disease characterized by diffuse vascular lesions and fibrosis, also affecting the heart. Cardiovascular magnetic resonance (CMR) can detect replacement myocardial fibrosis by late gadolinium enhancement (LGE) and interstitial myocardial fibrosis/edema by T1 mapping techniques. Purpose To evaluate the prevalence of cardiac involvement by native T1 mapping and its correlation with clinical and CMR parameters in SSc patients. Methods Fifty-one consecutive SSc patients (mean age 51.8 ± 13.7 years, 42 females) and 51 healthy subjects matched for age and sex underwent clinical, bio-humoral assessment, and CMR at 1.5T (Signa Artist, GE Healthcare ). The imaging protocol included: cine, T1 mapping by MOLLI, T2 mapping by multi-echo fast-spin-echo sequence, LGE, and STIR T2-weighted sequences. Native T1 and T2 values were assessed in all 16 myocardial segments and the global value was the mean. Results. Global native T1 values were significantly higher in SSc patients than in healthy subjects (1076.4 ± 50.7 vs 1033.3 ± 31.9 ms; P &lt; 0.0001). As in healthy subjects, in patients native T1 values were significantly lower in males than in females (1033.4 ± 38.3 vs 1085.6 ± 48.6 ms; P = 0.004) and inversely correlated with age (R=-0415; P = 0.002). Twenty-three (45.1%) patients had an increased global heart T1 value (&gt;1060 ms in males and &gt;1085 ms in females). Of them, 14 patients (60.9 %) showed positive LGE. Frequency of cardiovascular risk factors, indices of disease activity and chronicity, biochemical parameters, and cardio-active therapy were comparable between patients with normal and elevated T1. Compared to patients with normal T1 value, patients with elevated T1 had significantly higher left ventricular (LV) end-diastolic volume index (76.8 ± 13.3 vs 69.2 ± 11.8, P = 0.050), LV stroke volume index (49.7 ± 6.4 vs 44.4 ± 6.9 ml/m2; P = 0.010), LV cardiac output (3.6 ± 0.5  vs 3.0 ± 0.6 l/min /m2; P &lt; 0.0001), and global heart T2 values (60.1 ± 3.6 vs 55.7 ± 3.1 ms; P &lt; 0.0001). Replacement myocardial fibrosis was detected in 24 (47.1%) patients and they showed significantly higher global heart native T1 values (Figure 1A). Positive T2-weighted images for myocardial oedema were found in 5 (9.8%) patients, all with increased global heart native T1 value. Patients with oedema had significantly higher native global heart T1 values (Figure 1B). Conclusion Elevated native T1 values measured by CMR are frequent in SSc patients and they are associated with inflammation, replacement fibrosis, and increased LV dimension. CMR T1 mapping seems to be a sensitive parameter to include in the routine clinical assessment of SSc patients for detecting earlier pejorative cardiac involvement, although prospective data are recommended. Abstract Figure.

scholarly journals Cardiac MRI T1 mapping and extracellular volume application in hypertrophic cardiomyopathy

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Nahla D. Ali ◽  
Noha Behairy ◽  
Ahmed Kharabish ◽  
Wesam Elmozy ◽  
Ahmed Yahya Hegab ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Myocardial Fibrosis ◽  
T1 Mapping ◽  
Extracellular Volume ◽  
Left Ventricular ◽  
Diffuse Myocardial Fibrosis ◽  
Diffuse Fibrosis ◽  
Proton Relaxation ◽  
Wide Range ◽  
Significant Difference

Abstract Background Hypertrophic cardiomyopathy (HCM) is one of the commonest inheritable cardiac disorders. Being a global disease with diffuse myocardial fibrosis, it has a wide range of adverse outcomes ending with sudden cardiac death. Cardiac magnetic resonance (CMR) with late gadolinium enhancement (LGE) has become a reference standard for visualization of focal myocardial fibrosis. In the setting of less severe or more diffuse fibrosis, LGE is unlikely to reveal the presence of abnormal tissue given the lack of normal myocardium as a reference. Direct measurement of myocardial T1 time (T1 mapping) may improve these methodologic problems of LGE CMR in the setting of diffuse retention of gadolinium-based contrast material. So, we aim at this study to evaluate the clinical application of CMRI native and post-contrast T1 relaxation in assessing diffuse myocardial fibrosis non-invasively in hypertrophic cardiomyopathy. Results There was a significant difference between the percent of fibrosis detected by measuring the extracellular volume percent compared to that detected by LGE, with the former detecting fibrosis in 45.1% of the examined cardiac segments while the latter showed fibrosis in 20.9% of the cardiac segments. Also, measuring the native T1 values showed evidence of fibrosis in about 32.2% of the cardiac segments superseding the percent of fibrosis detected using the LGE alone. The ejection fraction percent showed a negative correlation with the left ventricular mass with a correlation coefficient value of − 0.139 where both interstitial and replacement fibrosis play an important role in the pathophysiology of diastolic dysfunction as well as impairing the myocardial contractility. Also, in cases of obstruction, the extracellular volume (ECV) is more likely to increase in the basal anterior and antero-septal segments as well as the basal inferior segment with P values 0.015, 0.013, and 0.045, respectively. Conclusion Diffuse fibrosis was found to be difficult to be distinguished using LGE. The unique ability of CMR to use proton relaxation times provides a quantitative measurement to detect increased interstitial volume in diffuse myocardial fibrosis. Moreover, it showed that in cases of obstruction, the segments exposed to the highest pressure are more vulnerable to the fibrotic process denoting a relationship between the pressure gradient and the adverse myocardial remodeling.

scholarly journals Selective Interventricular Septal Radiofrequency Ablation in Patients With Hypertrophic Obstructive Cardiomyopathy: Who Can Benefit?

2021 ◽  
Vol 8 ◽  
Author(s):  
Qiang Liu ◽  
Hangyuan Qiu ◽  
Ruhong Jiang ◽  
Xiaomei Tang ◽  
Wenpu Guo ◽  
...  
Keyword(s):  
Papillary Muscle ◽  
Hypertrophic Obstructive Cardiomyopathy ◽  
Left Ventricular ◽  
Functional Class ◽  
Mitral Leaflet ◽  
Alcohol Septal Ablation ◽  
Anterior Mitral Leaflet ◽  
Left Ventricular Outflow ◽  
Septal Hypertrophy ◽  
Surgical Myectomy

Introduction: Septal mass reduction is beneficial for hypertrophic obstructive cardiomyopathy (HOCM) patients with severe left ventricular outflow (LVOT) gradient and symptoms, with surgical myectomy or alcohol septal ablation (ASA) currently recommended in selected patients. Radiofrequency (RF) ablation of hypertrophied septum has been published as a novel method to alleviate LVOT obstruction in small populations. This study aims to investigate factors influencing clinical outcomes of radiofrequency septum ablation.Methods and Results: In this study, 20 patients with HOCM who underwent endocardial ablation were included. Echocardiography and cardiac MRI (CMR) data was collected and analyzed pre- and (or) post- procedure. Nineteen patients underwent ablation successfully, while ablation was aborted in one patient with prior RBBB due to transient complete atrioventricular block (AVB). After 6 months of follow-up, NYHA heart functional class improved from III (2 - 3) to II (1 - 2) (p &lt; 0.001), and resting LVOT gradient was significantly reduced (87.6 ± 29.5 mmHg vs. 48.1 ± 29.7, p &lt; 0.001). LVOT gradient reduction was significantly higher in patients with limited basal septal hypertrophy (60.9 ± 8.3 vs. 27.9 ± 7.1, p = 0.01), shorter anterior mitral leaflet (56.1 ± 6.4 vs. 20.4 ± 5.0, p &lt; 0.01), and normally positioned papillary muscle (36.9 ± 7.1 vs. 75.0 ± 6.3, p &lt; 0.05).Conclusions: Endocardial septal ablation appears to be a safe and effective procedure for alleviating LVOT gradient in patients with HOCM, especially in those with limited basal septal hypertrophy, shorter anterior mitral leaflet, and normal positioned papillary muscle.

Microvascular Rarefaction and Myocardial Fibrosis in Hypertrophic Obstructive Cardiomyopathy

Cardiology ◽  
2018 ◽  
Vol 141 (4) ◽  
pp. 202-211 ◽  
Author(s):  
Hongwei Tian ◽  
Chengzhi Yang ◽  
Yunhu Song ◽  
Hongyue Wang ◽  
Jiansong Yuan ◽  
...  
Keyword(s):  
Late Gadolinium Enhancement ◽  
Myocardial Fibrosis ◽  
Critical Role ◽  
Significant Negative Correlation ◽  
Hypertrophic Obstructive Cardiomyopathy ◽  
Left Ventricular ◽  
Gadolinium Enhancement ◽  
Septal Wall ◽  
Microvascular Rarefaction ◽  
Severe Fibrosis

Background: Hypertrophic obstructive cardiomyopathy (HOCM) is a myocardial disease characterized by fibrosis and microvascular ischemia. Microvessels play a critical role in myocardial fibrosis in HOCM. However, it remains unclear whether or not myocardial fibrosis is associated with microvascular density (MVD) changes. Objective: The aim of the present study was to investigate whether a reduction in MVD is related to myocardial fibrosis in HOCM cardiac samples. Methods: We analyzed MVD and fibrosis in myectomy left ventricular (LV) septal wall specimens from 53 HOCM patients. Control myocardium from the LV septal wall was collected at autopsy of 9 individuals who died of noncardiac causes. Results: The fibrosis ratio (% area) in HOCM was higher and the MVD was lower than that in control subjects (i.e., 12.7 ± 10.0 vs. 4.0 ± 1.4%, p = 0.012, and 480.9 ± 206.7 vs. 1,425 ± 221/mm2, p < 0.001). Patients with mild fibrosis had a higher MVD than patients with moderate fibrosis (i.e., 568.2 ± 214.8 vs. 403.2 ± 167.8/mm2, p = 0.006) and patients with severe fibrosis (i.e., 568.2 ± 214.8 vs. 378.6 ± 154.0/mm2, p = 0.024). Furthermore, a significant negative correlation was found between myocardial fibrosis and MVD in HOCM patients (r = –0.40, p = 0.003), which was also found in mild fibrosis (r = –0.40, p = 0.043), moderate fibrosis (r = –0.50, p = 0.024), and severe fibrosis (r = –0.24, p = 0.61), although no significant differences were observed in severe fibrosis. Additionally, we demonstrated that late gadolinium enhancement was negatively correlated with MVD (r = –0.37, p = 0.03) and positively correlated with fibrosis (r = 0.44, p = 0.01). Conclusion: HOCM patients had a higher myocardial fibrosis ratio and a lower MVD. The severity of myocardial fibrosis was negatively correlated with MVD in HOCM. These findings showed that a reduced MVD may contribute to myocardial fibrosis in HOCM.

scholarly journals Myocardial T1-mapping for early detection of left ventricular myocardial fibrosis in systemic sclerosis

2011 ◽  
Vol 13 (S1) ◽  
Author(s):  
Franck Thuny ◽  
Leila Potton ◽  
Stanislas Rapacchi ◽  
Hélène Thibault ◽  
Cyrille Bergerot ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Early Detection ◽  
Myocardial Fibrosis ◽  
T1 Mapping ◽  
Left Ventricular ◽  
Myocardial T1
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