Left ventricular function in children with the Marfan syndrome

Area of Science:

• Cardiology
• Genetics
• Pediatrics

Background:

• Marfan syndrome is a genetic disorder affecting connective tissue.
• Aortic dilatation and heart valve issues are common, but left ventricular (LV) function is less understood.
• Previous research has not thoroughly investigated primary alterations in LV function in pediatric Marfan syndrome.

Purpose of the Study:

• To investigate left ventricular (LV) size, mass, and systolic/diastolic function in children with Marfan syndrome.
• To identify potential early functional changes in the LV in pediatric Marfan syndrome.
• To correlate findings with the underlying connective tissue abnormality.

Main Methods:

• Utilized M-mode and Doppler echocardiography and cine magnetic resonance imaging.
• Studied 22 children with Marfan syndrome (aged 3.0-15.4 years) and 22 age-matched healthy controls.
• Assessed LV size, mass, systolic function, and diastolic parameters including relaxation and transmitral flow.

Main Results:

• No significant differences in LV size, mass, or systolic function between groups.
• Marfan children exhibited slower LV peak diameter lengthening rates.
• Marfan children demonstrated prolonged relaxation times and impaired early diastolic function (slower deceleration of early transmitral velocity, smaller early-to-late peak velocity ratios).

Conclusions:

• Pediatric Marfan syndrome is associated with impaired left ventricular (LV) early diastolic function (relaxation).
• This dysfunction is likely due to weakened elastic recoil resulting from the primary connective tissue defect.
• Findings highlight a novel aspect of cardiac involvement in pediatric Marfan syndrome.