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LV dysfunction common in Hutchinson-Gilford progeria syndrome
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Left ventricular diastolic dysfunction was the most common echocardiographic abnormality in patients with Hutchinson-Gilford progeria syndrome, according to a study published in JAMA Cardiology.
Hutchinson-Gilford progeria syndrome, or HGPS, is an ultrarare premature aging disease that often leads to premature death from MI caused by premature atherosclerosis, according to the study.
“Echocardiographic indicators of LV diastolic dysfunction may be useful endpoints in future clinical trials,” Ashwin Prakash, MD, director of cardiac MRI at Boston Children’s Hospital and associate professor of pediatrics at Harvard Medical School, and colleagues wrote.
Researchers analyzed data from 27 children (median age, 5.6 years; 56% boys) with classic Hutchinson-Gilford progeria syndrome. Patients were evaluated before initiating treatment during a single visit from July 2014 to February 2016. Various measurements were taken during the evaluation such as LV volumes and mass, body surface area, mitral valve inflow velocity, BP and mitral and aortic regurgitation.
More than half of patients had LV diastolic dysfunction (59%), which was defined as a tissue Doppler lateral or septal early velocity z score less than –2. The prevalence of LV diastolic dysfunction increased with age.
Older patients had worse LV diastolic function indicators, including worse z scores for lateral and septal early velocities (r = –0.77; P < .001 and r = –0.66; P < .001, respectively). These patients had higher ratios for early mitral inflow velocity to early diastolic tissue Doppler myocardial velocity for septal and lateral scores (r = 0.8; P < .001 and r = 0.72; P < .001, respectively).
LV systolic dysfunction, LV hypertrophy and valve disease were less common in patients in the first decade and increased in prevalence during the second decade.
“Patients with HGPS have a markedly abnormal body composition, with reduced subcutaneous and visceral fat and low BMI values,” Prakash and colleagues wrote. “As a result, the proportion of lean body mass to less metabolically active fatty tissue in patients with HGPS is higher compared with that in healthy children. Therefore, it may be expected that [body surface area]-corrected cardiac output would be higher in patients with HGPS and could be responsible for the higher than normal LV volume z scores in our study.” – by Darlene Dobkowski
Disclosures: Prakash reports he received support from Merck. Please see the study for all other authors’ relevant financial disclosures.
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