scholarly journals Echocardiographic Profile of Hypertrophic Cardiomyopathy – A Single-Centre, Observational study

2021 ◽  
Vol 14 (1) ◽  
pp. 5-11
Author(s):  
AKM Monwarul Islam ◽  
Dipal K Adhikary ◽  
Shovan Rahman ◽  
Mohsin Ahmed ◽  
Md Toufiqur Rahman ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Observational Study ◽  
Wall Thickness ◽  
Phenotypic Expression ◽  
Systolic Pressure ◽  
Left Ventricular ◽  
Left Ventricular Cavity ◽  
Asymmetric Septal Hypertrophy ◽  
Septal Hypertrophy ◽  
Bangladeshi Population

Background: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease of left ventricular hypertrophy (LVH). Phenotypic expression varies widely from subclinical hypertrophy to gross asymmetric septal hypertrophy causing left ventricular outflow tract (LVOT) obstruction. On top of genetic and phenotypic heterogeneity, the prevalence of different types of HCM may have geographical, as well as, ethnic variation. Methods: This observational study was carried out during 2010 to 2020 to determine the echocardiographic profile of HCM in Bangladeshi population. All patients undergoing transthoracic echocardiography (TTE) in a private consultation centre of Dhaka, Bangladesh were included. HCM was defined as the presence of a maximal end-diastolic wall thickness of e”15 mm anywhere in the left ventricle (LV), in the absence of another cause of hypertrophy in adults. HCM was further classified according to the pattern of myocardial hypertrophy and presence or absence of LVOT, or mid-left ventricular cavity obstruction. Results: Out of 76 cases, non-obstructive HCM was the commonest type (65.8%), followed by HCM causing LVOT obstruction (13.2%), HCM causing mid-LV cavity obstruction (10.5%), and the apical variety ( 10.5%). Asymmetric septal hypertrophy (ASH) was found in 42.1%, systolic anterior motion (SAM) of anterior mitral leaflet (AML) in 14.5%, mitral regurgitation (MR) in 50%, left ventricular systolic dysfunction in 5.3%, and raised pulmonary artery systolic pressure (PASP) in 15.8% of cases. Maximum LV wall thickness ≥30 mm was found in 66 out of 76 cases. Conclusion: The study highlights the clinically useful profile of HCM in Bangladeshi population based on conventional echocardiography. Further studies involving clinical, newer echocardiographic modalities and genetic analyses are warranted to discover the additional information in this ethnicity. Cardiovasc j 2021; 14(1): 5-11

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 P873 A rare and potentially treatable cause of left ventricular hypertrophy

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
C Y Wong
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Left Ventricular Hypertrophy ◽  
Ejection Fraction ◽  
Fabry Disease ◽  
Ventricular Hypertrophy ◽  
Left Ventricular ◽  
Valvular Regurgitation ◽  
Outflow Obstruction ◽  
Asymmetric Septal Hypertrophy ◽  
Septal Hypertrophy

Abstract Introduction A 67-year-old man was referred for care of "asymptomatic hypertrophic cardiomyopathy". He did not have hypertension. No significant positive family history could be elicited. Electrocardiogram showed sinus rhythm with voltage criteria of left ventricular hypertrophy (LVH). Outside Transthoracic Echocardiogram (TTE) reported normal ejection fraction with asymmetric septal hypertrophy without outflow obstruction. He was put on observation for few years and was not any treatment. On first encounter in our clinic, physical examination including skin and eye assessment, and laboratory tests including renal function were unremarkable. Procedure TTE was repeated in our clinic showing normal left ventricular size with ejection fraction 55%, and impaired diastolic relaxation. There was asymmetric septal hypertrophy with septal thickness 2.1 cm (Figure A). There was mild systolic anterior motion of mitral apparatus and mild mitral regurgitation, without resting or Valsalva provoked outflow obstruction. Global longitudinal strain was -7.7% with most prominent abnormalities seen at apex, mid to basal anteroseptal and anterior wall (Figure B). Further assessment by Cardiac MRI showed similar asymmetric septal wall thickening. Late gandolinium enhancement study demonstrated patchy fluffy hyperenhancement of the mid wall of the basal to mid anteroseptal segment, and mid to apical anterior segment, suggestive of myocardial fibrosis (Figure C1 and C2). Dried spot blood was sent to Taiwan for enzyme study which revealed partial acid alpha-galactosidase A deficiency. Further genetic study detected a mutation of Hemizygous NM_000169.2(GLA):c.640-801[G &gt; A] at intron 4. Finally endomyocardial biopsy was done which confirmed the cardiac involvement of Fabry disease (Figure D, myelin body shown under electron microscopy). This gentleman was referred for consideration of Enzyme Replacement Therapy (ERT). Discussion Fabry disease is an X-linked glycolipid storage disease with accumulation of globotriaosylceramide in lysosomes in multiple cell types throughout the body leading to various organ involvement. Cardiac manifestations include unexplained LVH, valvular regurgitation, conduction abnormalities etc. It occurs in up to 0.3-5% of patients with hypertrophic cardiomyopathy. Fabry disease should be considered as a differential diagnosis in all men with sporadic or non-autosomal dominant transmission of unexplained LVH, since treatment with ERT is available which may reduce LVH and improve myocardial function, although any impact on long term outcome has not yet been established. Conclusion This case illustrated a rare but potentially treatable cause of hypertrophic cardiomyopathy. Myocardial strain imaging should be integrated in routine TTE study for assessment of unexplained left ventricular hypertrophy. Multi-modality imaging and multi-specialty approach help in identifying patients of cardiac variant of Fabry disease who may benefit from ERT. Abstract P873 Figure.

scholarly journals Cardiac amyloidosis: The great masquerader

2018 ◽  
Vol 2018 (2) ◽  
Author(s):  
Jubran Rind ◽  
Nagib Chalfoun ◽  
Richard McNamara
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Cardiac Mri ◽  
Cardiac Amyloidosis ◽  
Ventricular Hypertrophy ◽  
Left Ventricular Outflow Tract ◽  
Ventricular Outflow Tract ◽  
Left Ventricular ◽  
Asymmetric Septal Hypertrophy ◽  
Left Ventricular Outflow ◽  
Septal Hypertrophy

Cardiac amyloidosis is an elusive condition that is notorious for mimicking various cardiovascular conditions that present with left ventricular hypertrophy (LVH). The hypertrophy in amyloidosis is typically diffuse; however, rare reports of echocardiographic resemblances with hypertrophic cardiomyopathy (HCM) exist, such as asymmetric septal hypertrophy and left ventricular outflow tract obstruction. Cardiac MRI can help differentiate amyloidosis from hypertrophic cardiomyopathy in unclear situations. This differentiation from HCM and other forms of cardiomyopathy has important treatment implications. Here we present the case of a 76-year-old man with cardiomyopathy who had echocardiographic features of asymmetric hypertrophic cardiomyopathy but was correctly diagnosed with amyloidosis with the help of cardiac MRI and ECG.

Abstract 14042: Weight Loss Favorably Impacts Left Ventricular Mass and Wall Thickness by CMR and CT in Patients With Hypertrophic Cardiomyopathy: A Retrospective Case Series

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Maria DeFonte ◽  
Jonathan Goldstein ◽  
Daniele Massera ◽  
Alexandra Stepanovic ◽  
Alexander Gee ◽  
...  
Keyword(s):  
Weight Loss ◽  
Hypertrophic Cardiomyopathy ◽  
Wall Thickness ◽  
Phenotypic Expression ◽  
Case Series ◽  
Left Ventricular ◽  
Retrospective Case ◽  
Pathogenic Variants ◽  
Lv Mass ◽  
The Impact

Introduction: Hypertrophic Cardiomyopathy (HCM) is a relatively common inherited heart disease with variable phenotypic expression. While pathogenic variants in sarcomeric genes are considered responsible for the development of left ventricular (LV) hypertrophy, environmental modulation of phenotype may explain the known heterogeneity. Obesity is common in HCM patients and is associated with increased LV mass in the general population. Hypothesis: We hypothesized that weight loss in obese patients with HCM would be associated with a decrease in LV mass and maximal wall thickness. Methods: Patients with HCM who achieved therapeutic weight loss and underwent cardiac MRI (CMR) or computed tomography (CT) before and afterwards were included. Standard LV measurements including wall thickness in an 18-segment model were performed blindly with respect to name, time and BMI for un-biased comparison. Results: We included 6 patients (2 female, age 55 ± 6.5 years, baseline BMI = 36.7 ± 5.2 kg/m 2 ) who achieved 16.3 ± 10.8 kg weight loss after 35 ± 12 months with diet and exercise (n=4) or bariatric surgery (n=2). After weight loss, we observed a mean proportional decrease in total LV mass of 25 ± 16% (p=0.004), and a 19 ± 7% decrease in indexed LV mass (p=0.007). Furthermore, there was a numerical decrease in mean wall thickness in 14 out of 18 LV segments measured; 9 segments had more than a 10% decrease. The most noticeable changes were at the basal inferolateral wall (25 ± 13% decrease) and basal inferoseptum (19 ± 18%) decrease (Table). Conclusions: In this series of patients with HCM, weight loss favorably affected LV mass and wall thickness. Further research is needed to explore the impact of weight loss on HCM phenotypic expression and symptoms.

scholarly journals Outcomes and phenotypic expression of rare variants in hypertrophic cardiomyopathy genes amongst UK Biobank participants

2021 ◽  
Author(s):  
Antonio de Marvao ◽  
Kathryn A McGurk ◽  
Sean L Zheng ◽  
Marjola Thanaj ◽  
Wenjia Bai ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
General Population ◽  
Wall Thickness ◽  
Rare Variants ◽  
Phenotypic Expression ◽  
Left Ventricular ◽  
Uk Biobank ◽  
Risk Of Death ◽  
Increased Risk ◽  
Encoding Genes

AbstractBackgroundHypertrophic cardiomyopathy (HCM) is caused by rare variants in sarcomere-encoding genes, but little is known about the clinical significance of these variants in the general population.MethodsWe compared outcomes and cardiovascular phenotypes in UK Biobank participants with whole exome sequencing stratified by sarcomere-encoding variant status.ResultsThe prevalence of rare variants (allele frequency <0.00004) in HCM-associated sarcomere-encoding genes in 200,584 participants was 2.9% (n=5,727; 1 in 35), of which 0.24% (n=474, 1 in 423) were pathogenic or likely pathogenic variants (SARC-P/LP). SARC-P/LP variants were associated with increased risk of death or major adverse cardiac events compared to controls (HR 1.68, 95% CI 1.37-2.06, p<0.001), mainly due to heart failure (HR 4.40, 95% CI 3.22-6.02, p<0.001) and arrhythmia (HR 1.55, 95% CI 1.18-2.03, p=0.002). In 21,322 participants with cardiac magnetic resonance imaging, SARC-P/LP were associated with increased left ventricular maximum wall thickness (10.9±2.7 vs 9.4±1.6 mm, p<0.001) and concentric remodelling (mass/volume ratio: 0.63±0.12 vs 0.58±0.09 g/mL, p<0.001), but hypertrophy (≥13mm) was only present in 16% (n=7/43, 95% CI 7-31%). Other rare sarcomere-encoding variants had a weak effect on wall thickness (9.5±1.7 vs 9.4±1.6 mm, p=0.002) with no combined excess cardiovascular risk (HR 1.00 95% CI 0.92-1.08, p=0.9).ConclusionsIn the general population, SARC-P/LP variants have low aggregate penetrance for overt HCM but are associated with an increased risk of adverse cardiovascular outcomes and a sub-clinical cardiomyopathic phenotype. In contrast, rare sarcomeric variants that do not meet criteria to be classified as P/LP appear to have minimal clinical impact.

Modified Septal Myectomy Using a Curved Knife for Left Ventricular Septal Hypertrophy

2014 ◽  
Vol 17 (5) ◽  
pp. 269
Author(s):  
Shinya Takahashi ◽  
Taiichi Takasaki ◽  
Futoshi Tadehara ◽  
Takahiro Taguchi ◽  
Keijiro Katayama ◽  
...  
Keyword(s):  
Blood Flow ◽  
Chest Pain ◽  
Aortic Valve ◽  
Cross Section ◽  
Left Ventricular ◽  
Chest Discomfort ◽  
Septal Myectomy ◽  
Asymmetric Septal Hypertrophy ◽  
Septal Hypertrophy ◽  
Septal Myocardium

An 86-year-old woman presented with chest pain and discomfort. Echocardiography revealed severe aortic valve stenosis and asymmetric septal hypertrophy. Aortic valve replacement and myectomy were performed using a curved knife. The blade was U-shaped in cross-section, and was curved upward along the long axis. Hypertrophic septal myocardium was removed along the long axis of the left ventricle (LV), and a groove for blood flow was constructed. The patient was discharged uneventfully without recurrence of her chest discomfort. Our result suggested that a curved knife is a reasonable option for transaortic septal myectomy in patients with obstructive LV hypertrophy.

scholarly journals Aetiology-discriminative multimodality imaging of hypertrophic cardiomyopathy: deformation patterns relate to synchrotron-based assessment of microstructural tissue remodelling

2021 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
F Loncaric ◽  
A Garcia-Alvarez ◽  
P Garcia-Canadilla ◽  
L Sanchiz ◽  
H Dejea ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Wall Thickness ◽  
Multimodality Imaging ◽  
Global Longitudinal Strain ◽  
Microstructural Analysis ◽  
Left Ventricular ◽  
Doppler Imaging ◽  
Deformation Analysis ◽  
Septal Myectomy ◽  
Regional Deformation

Abstract Funding Acknowledgements Type of funding sources: Public grant(s) – EU funding. Main funding source(s): Horizon 2020 European Commission Project H2020-MSCA-ITN-2016 (764738) and the Clinical Research in Cardiology grant from the Spanish Cardiac Society. Background The aetiology of left ventricular hypertrophy (LVH) is a relevant clinical challenge with consequences for patient management. Phenotypes resulting from hypertensive remodelling and sarcomere mutation often overlap. Synchrotron X-ray phase-contrast imaging (X-PCI) is a technique that can provide 3-dimensional detailed information on myocardial micro-structure non-destructively. The aim is to relate macrostructural/functional, non-invasive, imaging phenotypes of hypertrophic cardiomyopathy (HCM) to the underlying myocardial microstructure assessed with X-PCI. Methods Myocardial tissue samples were obtained from three patients (P1-3) with obstructive myocardial hypertrophy undergoing septal myectomy. Medical history and the 5-year HCM risk scores were evaluated. The patients were imaged with magnetic resonance imaging and echocardiography prior to procedure. Myocardial structure was assessed with wall thickness, late gadolinium enhancement (LGE), whereas function with speckle-tracking deformation (STE) and tissue Doppler imaging (TDI). Myectomy tissue was imaged with X-PCI in the TOMCAT beamline, using a multiscale propagation-based protocol combining a low-resolution (LR) and a high-resolution (HR) setup (5.8 and 0.7 um pixel size, respectively). Results The clinical and imaging data are shown in Fig 1. On initial assessment, wall thickness, LGE distribution, global longitudinal strain and septal TDI demonstrated a similar macrostructural and functional phenotype of P1 and P2, whereas P3 stood out with more severe hypertrophy, scarring and dysfunction. Additional regional deformation analysis with STE revealed reduced deformation in the basal and mid septum in P1, paired with a hypertensive pattern of post-systolic shortening (PSS) (yellow arrows). In comparison, in P2 and P3, deformation was more heterogeneous regionally, with regions of almost complete absence of deformation (orange arrows). Upon further exploration with TDI, areas with abnormal deformation were identified on the transition from basal to mid septum in both P2 and P3, whereas deformation was normal, but reduced in P1, and paired with PSS. LR X-PCI defined regions of interest to scan with HR (yellow frame), where HR revealed extensive interstitial fibrosis (orange arrow) with normal myocyte size and organisation in P1, compatible with severe hypertensive remodelling. However, in P2 and P3, patches of fibrosis (yellow arrow) paired with enlarged myocytes organized in visible disarray, considerably more prominent in P3, were both compatible with sarcomere-mutation HCM. Conclusion The results demonstrate multiscale phenotyping of HCM - relating micro- and macrostructural findings to function, and integrating multimodality data. In-depth regional deformation analysis, validated by synchrotron-based microstructural analysis, showed potential to identify distinct imaging phenotypes in HCM, distinguishing between overlapping presentations in different aetiologies. Abstract Figure 1

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