scholarly journals Left ventricular emptying dynamics in patients with asymmetric septal hypertrophy and concentric hypertrophic cardiomyopathy

1982 ◽  
Vol 5 (12) ◽  
pp. 647-652 ◽  
Author(s):  
J. Peters ◽  
V. Bhargava ◽  
A. Johnson ◽  
L. Mangiardi ◽  
R. Slutsky
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Left Ventricular ◽  
Asymmetric Septal Hypertrophy ◽  
Septal Hypertrophy

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 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

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.

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.

Hypertrophic Cardiomyopathy with Shared Morphology in Identical Twins: A Case Report

2002 ◽  
Vol 47 (3) ◽  
pp. 64-65 ◽  
Author(s):  
L. Wylie ◽  
A. Ramage ◽  
D. C. MacLeod
Keyword(s):  
Case Report ◽  
Hypertrophic Cardiomyopathy ◽  
Identical Twins ◽  
Identical Twin ◽  
Asymmetric Septal Hypertrophy ◽  
Heterogeneous Expression ◽  
Septal Hypertrophy

We report the case of identical twin sisters, both with hypertrophic cardiomyopathy, and both found to have similar echocardiographic appearances in the form of asymmetric septal hypertrophy. This is unusual, in that published reports commonly describe the heterogeneous expression of this condition in twins.

scholarly journals CHARACTERISATION OF HYPERTROPHIC CARDIOMYOPATHY BY CARDIAC MAGNETIC RESONANCE IMAGING

2021 ◽  
Vol 9 (11) ◽  
pp. 643-648
Author(s):  
Nava Udaya N.R ◽  
◽  
Ramiah Rajesh Kannan ◽  
Srikanth Moorthy ◽  
Resmi Sekhar ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Left Ventricle ◽  
Cardiac Mri ◽  
Cardiac Death ◽  
Final Diagnosis ◽  
Left Ventricular ◽  
Categorical Variables ◽  
Diagnostic Parameters ◽  
Septal Hypertrophy

Background: There are many causes of left ventricular hypertrophy which can result in arrhythmias and sudden cardiac death. Hypertrophic cardiomyopathy (HCM) is one of the commonly encountered cause of sudden cardiac death in young adults. Aim: Identifying the role of Cardiac MRI in characterising the diagnostic parameters of HCM. Materials and methods: 125 patients with clinical suspicion or genetic evidence of HCM referred for cardiac MRI between June 2013 to June 2021 were included under the study. Image interpretations were done by fellowship qualified cardiac imaging radiologist. Categorical variables were expressed using frequency and percentage. Numerical variables were presented using mean and standard deviation. Results: Out of the total population, 119 patients (95 %) had LV wall thickness > 13 mm, 48 patients (38.4%) had Left ventricle outflow tract obstruction (LVOTO) and 32 patients (25.6 %) had mid cavity obstruction, 39 patients (37.9 %) had myocardial scar > 15 % and asymmetric septal hypertrophy was the most frequently encountered left ventricle morphology Conclusion: Cardiac MRI detected HCM has a statistically significant association with the final diagnosis (histopathological and genetic correlation). CMRI hence serves as a reliable tool in identifying and characterising the various diagnostic and non- diagnostic parameters of HCM.

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