59-year-old female with breathlessness.
Alessandra Scatteia1, Estefania De Garate2, Chiara Bucciarelli-Ducci2
1CMR-unit Bristol Heart Institute, Bristol Heart Institute, University Hospitals Bristol NHS Foundation Trust, Bristol, UK Department of Biomedical science, Federico II, University of Naples, Naples, Italy.
Heart (British Cardiac Society)
|June 24, 2016
Summary
Cardiac MRI is crucial for diagnosing Anderson-Fabry disease in patients with unexplained heart conditions. This imaging technique aids in identifying characteristic left ventricular hypertrophy and T-wave abnormalities, guiding genetic testing.
Area of Science:
- Cardiovascular Imaging
- Genetic Cardiology
- Cardiac Magnetic Resonance (CMR)
Background:
- A 59-year-old female presented with exertional breathlessness and abnormal electrocardiogram (ECG) findings, including borderline voltage criteria for left ventricular hypertrophy (LVH) and widespread T-wave inversion.
- Family history of premature kidney failure raised suspicion for inherited cardiac conditions.
Observation:
- Echocardiography revealed normal cardiac structure, while coronary angiography showed unobstructed coronary arteries.
- Cardiac Magnetic Resonance (CMR) was performed for further characterization, utilizing cine, late gadolinium enhancement (LGE), and T1 mapping sequences.
Findings:
- CMR imaging is essential for diagnosing Anderson-Fabry disease (AFD).
- Specific LGE patterns and T1 mapping values can indicate AFD, differentiating it from other causes of LVH.
- The patient's clinical presentation and family history, combined with characteristic CMR findings, strongly suggest AFD.
Implications:
- Early and accurate diagnosis of AFD through CMR can facilitate timely genetic counseling and treatment initiation.
- CMR plays a pivotal role in the etiological diagnosis of unexplained cardiac hypertrophy and arrhythmias.
- This case highlights the importance of advanced cardiac imaging in managing inherited cardiovascular diseases.
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