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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
One heart, two cardiomyopathies
Vassilis Vassiliou1, Bobby Agrawal, Alisdair Ryding
1Department of Cardiology, Papworth Hospital, Cambridge, UK. vassiliou@doctors.org.uk
Insights
This case highlights a rare presentation of chest pain mimicking myocardial infarction. The patient experienced both Tako-tsubo cardiomyopathy and hypertrophic cardiomyopathy, despite having clear coronary arteries.
Area of Science:
- Cardiology
- Cardiovascular Imaging
- Internal Medicine
Background:
- Acute chest pain with ECG changes often indicates myocardial infarction.
- Coronary artery disease is the most common cause of acute myocardial infarction.
Observation:
- A 63-year-old woman presented with symptoms of acute myocardial infarction but had unobstructed coronary arteries.
- Left ventriculography revealed apical hypokinesis and basal hyperkinesis, characteristic of Tako-tsubo cardiomyopathy.
- Echocardiography showed left ventricular hypertrophy and dynamic outflow obstruction with mitral regurgitation.
Findings:
- The patient was diagnosed with both Tako-tsubo cardiomyopathy and hypertrophic cardiomyopathy.
- Despite initial recovery, persistent left ventricular hypertrophy and dynamic obstruction were noted on outpatient MRI.
- This case underscores the importance of considering non-coronary causes of myocardial infarction symptoms.
Implications:
- This presentation challenges typical diagnostic pathways for acute chest pain.
- It emphasizes the need for comprehensive cardiovascular assessment beyond coronary angiography.
- Understanding the coexistence of these cardiomyopathies is crucial for accurate diagnosis and management.
Abstract:
A 63-year-old woman with no previous medical problems presented with acute chest pain and an ECG consistent with an acute anterior myocardial infarction. At emergency angiography, she was found to have smooth unobstructed coronary arteries. On invasive left ventriculography, overall poor systolic function was noted with apical hypokinesis and basal hyperkinesis, consistent with Tako-tsubo phenomenon. Echocardiography demonstrated a hypertrophic left ventricle and left ventricular outflow obstruction due to systolic anterior motion of the mitral valve and moderate mitral regurgitation. Following appropriate management, she was discharged 6 days later. An outpatient MRI confirmed normalisation of the left ventricular systolic function; however, there was still significant left ventricular hypertrophy and dynamic obstruction. Although most patients presenting with chest pain and an ECG with ST elevation will have an acute coronary event, our patient had normal coronaries but both Tako-tsubo and hypertrophic cardiomyopathies.
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