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Acute Myocardial Infarction-Like Events in Related Patients With a Desmoplakin-Associated Arrhythmogenic
Sajya M Singh1, Scott W Sharkey1, Susan A Casey1
1Minneapolis Heart Institute and Foundation, Minneapolis, Minnesota, USA.
JACC. Case Reports
|November 12, 2021
Summary
Familial arrhythmogenic cardiomyopathy can mimic heart attacks. A rare genetic desmoplakin (DSP) gene mutation caused this presentation in two siblings.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Familial arrhythmogenic cardiomyopathy (FAC) is an inherited heart muscle disease.
- FAC typically causes ventricular arrhythmias and heart failure.
- Desmoplakin (DSP) gene mutations are a known cause of FAC.
Observation:
- Two siblings presented with symptoms mimicking acute myocardial infarction.
- Both siblings shared the same DSP gene mutation.
- This presentation is a rare manifestation of genetic cardiomyopathy.
Findings:
- The study identified a rare clinical presentation of arrhythmogenic cardiomyopathy.
- The desmoplakin (DSP) gene mutation was linked to myocardial infarction-like symptoms.
- Genetic analysis confirmed the shared DSP mutation in affected siblings.
Implications:
- Highlights the diverse clinical spectrum of DSP-related cardiomyopathy.
- Suggests considering genetic testing in young patients with myocardial infarction-like presentations.
- Enhances understanding of genotype-phenotype correlations in arrhythmogenic cardiomyopathy.
Keywords:
ACMACM, arrhythmogenic cardiomyopathyCMR, cardiac magnetic resonanceCP, chest painDSP, desmoplakinECG, electrocardiogramLGE, late gadolinium enhancementLV, left ventriclePVC, premature ventricular contractionRV, right ventricleTnI, troponin Igenetic cardiomyopathyheart failuremyocardial injurysudden cardiac deathtroponin IMore Related Videos
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