scholarly journals Asymmetric septal hypertrophy and hypertrophic cardiomyopathy.

Heart ◽  
1983 ◽  
Vol 49 (4) ◽  
pp. 309-316 ◽  
Author(s):  
R Emanuel ◽  
J Marcomichelakis ◽  
R Withers ◽  
K O'Brien
2002 ◽  
Vol 47 (3) ◽  
pp. 64-65 ◽  
Author(s):  
L. Wylie ◽  
A. Ramage ◽  
D. C. MacLeod

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.


Cardiology ◽  
2017 ◽  
Vol 138 (4) ◽  
pp. 228-237 ◽  
Author(s):  
Bo Wang ◽  
Rui-Qi Guo ◽  
Jing Wang ◽  
Fan Yang ◽  
Lei Zuo ◽  
...  

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.


2021 ◽  
Vol 14 (1) ◽  
pp. 5-11
Author(s):  
AKM Monwarul Islam ◽  
Dipal K Adhikary ◽  
Shovan Rahman ◽  
Mohsin Ahmed ◽  
Md Toufiqur Rahman ◽  
...  

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


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