А rare case of left ventricular hypertrophy and non-compaction cardiomyopathy in an adult: diagnostic approach

Abstract

Left ventricular non-compaction cardiomyopathy (LVNC) is a rare form of primary genetic cardiomyopathy which is characterized by prominent trabeculations and intertrabecular recesses that communicate with the cavity of the left ventricle. The prevalence is between 0.014%-1.3% in the general population. LVNC is associated with different genetic mutations and may have a genetic overlap with the phenotype of other cardiomyopathies, including hypertrophic cardiomyopathy (HCM). In this case report we present a 26-year-old female patient presenting to emergency room with bradycardia and syncope. The transthoracic echocardiography revealed hypertrophy and trabeculations with prominent recesses of the left ventricle. Cardiovascular magnetic resonance imaging (MRI) was performed to confirm the diagnosis of LVNC. The genetic analysis showed mutation of PRKAG2 gene indicating hypertrophic cardiomyopathy with conduction disturbance. In the last years, LVCN and HCM are diagnosed more frequently due to improvements in imaging methods. Although there are many diagnostic tools including contrast ventriculography, CT and MRI, echocardiography is the main imaging method used for diagnostic evaluation of LVNC and HCM. Key words: left ventricular non-compaction cardiomyopathy, hypertrophic cardiomyopathy, echocardiography, cardiovascular magnetic resonance imaging