Abstract
We report the case of a 23-year-old woman with a not yet described (to the best of our knowledge) association of left ventricle non-compaction with both atrial and ventricular defects. Family genetic survey concluded to, a probably sporadic, E101K gene mutation.
MeSH terms
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Amino Acid Substitution / genetics
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Dystrophin-Associated Proteins / genetics
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Female
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Glutamic Acid / genetics
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Heart Defects, Congenital / diagnosis*
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Heart Defects, Congenital / genetics
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Heart Septal Defects, Atrial / complications
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Heart Septal Defects, Atrial / diagnosis*
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Heart Septal Defects, Atrial / genetics
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Heart Ventricles / abnormalities*
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Humans
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Lysine / genetics
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Mutation, Missense
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Neuropeptides / genetics
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Young Adult
Substances
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DTNA protein, human
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Dystrophin-Associated Proteins
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Neuropeptides
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Glutamic Acid
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Lysine
Supplementary concepts
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Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects