Left Ventricular Noncompaction in a Child with Turner Syndrome

Area of Science:

• Cardiology
• Genetics
• Pediatrics

Background:

• Turner syndrome is frequently associated with congenital heart disease (CHD), commonly involving the aorta.
• Left ventricular noncompaction (LVNC) is a rare cardiomyopathy, with limited reported cases in adult Turner syndrome patients.

Observation:

• A 6-year-old female with Turner syndrome, diagnosed post-puberty, presented for cardiac evaluation.
• Initial echocardiogram revealed findings suggestive of LVNC.

Findings:

• Cardiac magnetic resonance imaging confirmed left ventricular noncompaction (LVNC) in the pediatric patient.
• This represents the first reported case of LVNC in a pediatric patient with Turner syndrome.

Implications:

• Highlights the importance of comprehensive cardiac screening in pediatric Turner syndrome.
• Suggests LVNC should be considered in the differential diagnosis of cardiac abnormalities in young Turner syndrome patients.
• Underscores the need for further research into the prevalence and management of rare cardiac conditions in Turner syndrome.