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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[Obstructive hypertrophic cardiomyopathy]
Celso Mendoza-González1, Francisco Javier Roldán, Zaira García López
1Instituto Nacional de Cardiología Ignacio Chávez, Tlalpan, México, DF. celame@yahoo.com.mx
Insights
Hypertrophic cardiomyopathy (HCM) is characterized by unexplained heart muscle thickening. Advanced echocardiography precisely identified septal hypertrophy and dynamic left ventricular outflow tract obstruction in a patient, guiding treatment.
Area of Science:
- Cardiology
- Medical Imaging
- Electrophysiology
Background:
- Hypertrophic cardiomyopathy (HCM) involves unexplained myocardial hypertrophy.
- Accurate localization of hypertrophy and outflow tract obstruction is crucial for treatment strategy.
Observation:
- A 41-year-old man presented with palpitations, EKG showing left ventricular hypertrophy, and echocardiogram revealing HCM and mitral regurgitation.
- Long-term EKG monitoring showed evolving changes related to left ventricular hypertrophy and systolic overload.
- Three-dimensional echocardiography visualized dynamic left ventricular outflow tract obstruction.
Findings:
- Electrophysiological study under amiodarone did not induce ventricular arrhythmias.
- Hemodynamic study confirmed a subaortic gradient, increasing with post-extrasystolic beats (Brockenbrough-Braunwald phenomenon).
- Three-dimensional echocardiography accurately defined the septal hypertrophy site and its hemodynamic impact.
Implications:
- Precise anatomical and functional characterization of HCM is vital for effective management.
- Advanced imaging techniques like 3D echocardiography enhance diagnostic accuracy in complex cardiac conditions.
- Understanding dynamic obstruction mechanisms aids in tailoring therapeutic interventions for hypertrophic cardiomyopathy.
Abstract:
Hypertrophic cardiomyopathy (HCM) was first described more than a century ago; the characteristic finding is an inappropriate myocardial hypertrophy, occurring in the absence of an obvious cause. Determination of the exact site of the hypertrophy and of the obstruction of the left ventricular outflow tract, in asymmetric septal hypertrophy, establishes which is the best treatment strategy. Forty-one-year-old man with a history of recurrent palpitations without any other symptomatology. The initial electrocardiogram (EKG) showed sinus rhythm with evidence of ventricular left hypertrophy and unspecific changes in ventricular repolarization. The transthoracic echocardiogram showed HCM and mitral regurgitation. The electrophysiological study, under treatment with amiodarone, did not induce ventricular arrhythmias. The 10-years evolution of the EKG showed changes of variable degrees associated with the hypertrophy and systolic overload of the left ventricle. The echocardiographic three-dimensional reconstruction in the long axis revealed the dynamic obstruction of the left ventricular outflow tract. In the hemodynamic study, the existence of a subaortic gradient confirmed the diagnosis and showed an increase of the gradient at the post-extrasystolic beat (Brockenbrough-Braunwald phenomenon). The echocardiographic three-dimensional reconstruction defines more accurately the exact site of the septal hypertrophy and its hemodynamic consequences.
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