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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Apical hypertrophic cardiomyopathy
Syed Wamique Yusuf1, Jaya D Bathina, Jose Banchs
1Syed Wamique Yusuf, Jaya D Bathina, Jose Banchs, Elie N Mouhayar, Iyad N Daher, Department of Cardiology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, United States.
World Journal of Cardiology
|August 24, 2011
Summary
Apical hypertrophic cardiomyopathy (AHCM) can be asymptomatic but may lead to cardiac arrhythmias. Early diagnosis via echocardiography and advanced imaging, alongside appropriate medical or device therapy, is crucial for managing this rare condition.
Area of Science:
- Cardiology
- Genetics
Background:
- Apical hypertrophic cardiomyopathy (AHCM) is a rare variant of hypertrophic cardiomyopathy affecting the left ventricular apex.
- It can present asymptomatically or with diverse cardiac symptoms including arrhythmias and heart failure.
Purpose of the Study:
- To describe a case of asymptomatic AHCM progressing to cardiac arrhythmias.
- To review diagnostic modalities, differential diagnoses, and treatment options for AHCM.
Main Methods:
- Case report of a patient with AHCM.
- Review of diagnostic tools: electrocardiogram (ECG), transthoracic echocardiogram (TTE), cardiac MRI, CT, and left ventriculography.
- Discussion of pharmacologic and device-based treatments.
Main Results:
- The patient initially asymptomatic, later developed cardiac arrhythmias.
- Classic ECG findings include giant negative T-waves and left ventricular hypertrophy.
- TTE is the initial diagnostic tool, revealing apical hypertrophy; advanced imaging aids in differential diagnosis.
Conclusions:
- AHCM diagnosis requires a combination of clinical presentation and imaging.
- Management involves risk stratification and tailored therapy, including medications and potentially an implantable cardioverter-defibrillator for high-risk individuals.
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