Left ventricular Doppler characteristics in first-degree relatives of patients with hypertrophic cardiomyopathy

Area of Science:

• Cardiology
• Genetics
• Echocardiography

Background:

• Left ventricular (LV) diastolic dysfunction can be an early indicator in hypertrophic cardiomyopathy (HCM).
• Phenotypic expression of HCM may not always correlate with early functional changes.

Purpose of the Study:

• To assess LV diastolic performance in asymptomatic first-degree relatives of HCM patients using Doppler echocardiography.
• To identify early markers of diastolic dysfunction in individuals at high genetic risk for HCM.

Main Methods:

• Conventional Doppler echocardiography was used to evaluate diastolic function.
• Key indices included E wave velocity, A wave velocity, E/A ratio, deceleration time, and LV isovolumic relaxation time.
• Comparison was made between 22 first-degree relatives of HCM patients and 22 healthy controls.

Main Results:

• A significantly slower deceleration time of transmitral early filling was observed in the relatives group (192 ± 31 msec) compared to controls (149 ± 31 msec).
• This slower deceleration time was the sole significant differentiator between the two groups.
• No other conventional echocardiographic parameters or diastolic indices showed significant differences.

Conclusions:

• Asymptomatic first-degree relatives of HCM patients exhibit an altered mitral filling pattern, similar to that seen in HCM.
• Slower deceleration time of early filling may serve as a sensitive, early marker for detecting preclinical stages of HCM.
• Doppler echocardiography can identify subtle diastolic impairments in genetically predisposed individuals before overt disease manifestation.