A Combination of Two Rare Diseases: LV Noncompaction and HCM - Different Disease Phenotypes With Shared Molecular Etiology?

A 48 year old male presented for cardiac magnetic resonance imaging for evaluation of 12 month history of dyspnea and chest pain. In addition, patient noted intermittent palpitation associated with dizziness. The patient is a non-smoker and has no known history of ischemic heart disease.

Figures A, B, C: A Combination of Two Rare Diseases: LV Noncompaction and HCM - Different Disease Phenotypes With Shared Molecular Etiology?

Figures D, E: A Combination of Two Rare Diseases: LV Noncompaction and HCM - Different Disease Phenotypes With Shared Molecular Etiology?

Gradient echo cine images in multiple orientations (Figures A to C and movies 1-3) as well as spin echo images were obtained (not shown). Left ventricular ejection fraction was quantified to be 62%. The maximum thickness of the basal septum measured 1.4 cm and the adjacent lateral wall measured 0.6 cm. Turbulence was not seen in the left ventricular outflow tract and no evidence of systolic anterior motion of the anterior mitral valve leaflet. Increased trabeculations are seen in the apex, anterior and distal lateral walls. Ten minutes after gadolinium administration, delayed-enhancement viability sequence was obtained in the standard orientations (Figures D and E) and revealed patchy hyperenhancement seen predominately in the basal septum.

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