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A 45-year-old male visited our outpatient department due to breathless on mild exercise for 1 month. He also complained of frequent and sustained episodes of palpitations associated with shortness of breath and in the last few days he had also dyspnea at rest. He denied chest pain, syncope and fever. He was a smoker and he had a mild dyslipidaemia. He had no history of coronary artery disease, hypertension, diabetes, heavy alcohol use or illicit drug use. His family history was significant for a myocardial infarction and a sudden cardiac death, both in his father. His mother was 75 years old and lived in Romania, he hadn't any brothers or sons. There was no family history of congenital heart disease or cardiomyopathy.
Coronary angiography, which was performed to rule out ischemic heart disease, not reveal obstructive coronary artery disease (<50% stenosis). Ventriculography in the right anterior oblique (RAO) identified extensive trabeculations of the anterior, lateral, and apical regions. The overall EF was estimated at 25%. A presumptive diagnosis of left ventricular non-compaction (LVNC) was made.
Basal and contrast-enhanced cardiac magnetic resonance imaging (MRI) confirmed the presence of trabeculation and intertrabecular recesses, with a two-layered structure of the endocardium with an increased noncompacted to compacted ratio (> 2.0) in the LV lateral wall, as well as global hypokinesis and an increased LV volume, which were all compatible with LVNC.
Short episodes of clinically silent atrial fibrillation, frequent episodes of ventricular bigeminy and many premature ventricular beats were documented during telemetric monitoring.
QUESTIONSWhich of the strategies/procedures do you judge reasonable at this time?Do you think that genetic testing for LVNC is appropriate?
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