А rare case of left ventricular hypertrophy and non-compaction cardiomyopathy in an adult: diagnostic approach
Date Issued
2021-03
Author(s)
Zafirovska, P
Risteski, D
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
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
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