Isolated left ventricular hypertrabeculation/noncompaction in a Turner mosaic with male phenotype

Area of Science:

• Cardiology
• Genetics
• Endocrinology

Background:

• Left ventricular hypertrabeculation (LVHT), or noncompaction, is a rare cardiac condition.
• Turner syndrome (TS) is a genetic disorder typically affecting females, characterized by the absence of one X chromosome.

Observation:

• A 45-year-old male with features of TS (short stature, facial dysmorphism, cryptorchism, hypospadia) and a mosaic karyotype (mos45,X/46,X,+mar/47,X,+2mar) was diagnosed.
• The patient experienced heart failure, revealing LVHT in the posterolateral, lateral, and anterior regions of the left ventricle via echocardiography and cardiac MRI.
• Cardiac imaging showed a dilated left ventricle, reduced systolic function, and mitral/tricuspid insufficiency.

Findings:

• This case demonstrates LVHT associated with mosaic Turner syndrome in a male patient.
• LVHT in this context presented as a severe cardiomyopathy leading to heart failure and rhythm abnormalities.
• Congenital cardiac abnormalities were absent, highlighting LVHT as a primary cardiac manifestation.

Implications:

• LVHT should be considered in males with mosaic Turner syndrome, particularly those presenting with cardiomyopathy.
• This association expands the known spectrum of cardiac manifestations in Turner syndrome.
• Further research is needed to understand the genetic and molecular mechanisms linking mosaic TS and LVHT.