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Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction
Josef Finsterer1, Benedikt Schoser, Claudia Stöllberger
1Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria. duarte@aonmail.at
Acta Cardiologica
|September 17, 2004
Summary
Primary myoadenylate-deaminase deficiency (MADD) can cause left ventricular hypertrabeculation (LVHT), a rare heart abnormality. This finding expands the known cardiac manifestations of MADD, a neuromuscular disorder.
Area of Science:
- Cardiology
- Genetics
- Neuromuscular Disorders
Background:
- Primary myoadenylate-deaminase deficiency (MADD) is a neuromuscular disorder.
- Left ventricular hypertrabeculation (LVHT)/non-compaction is a rare myocardial abnormality.
- LVHT is often associated with neuromuscular disorders, but not previously reported in MADD.
Observation:
- A 53-year-old male with MADD (diagnosed via genetic testing and enzyme activity) presented with fatigue and myalgia.
- Echocardiography and cardiac MRI revealed significant left ventricular thickening and LVHT.
- Nocturnal sinus bradycardia was noted on ambulatory ECG.
Findings:
- The study identified a novel association between MADD and left ventricular myocardial thickening with LVHT.
- The C34T mutation in the AMPD1 gene was identified as the likely cause.
- Cardiac abnormalities were causally linked to the genetic mutation.
Implications:
- Cardiac involvement, specifically myocardial thickening and LVHT, should be considered in patients with MADD.
- MADD should be added to the spectrum of neuromuscular disorders associated with LVHT.
- This expands the clinical understanding of MADD's systemic effects.