NDLI: RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy

Content Provider	Springer Nature Link
Author	Kaufman, Beth D. Auerbach, Scott Reddy, Sushma Manlhiot, Cedric Deng, Liyong Prakash, Ashwin Printz, Beth F. Gruber, Dorota Papavassiliou, Dimitrios P. Hsu, Daphne T. Sehnert, Amy J. Chung, Wendy K. Mital, Seema
Copyright Year	2007
Abstract	Hypertrophic Cardiomyopathy (HCM) is a disease with variable rate of progression. Young age is an independent risk factor for poor outcome in HCM. The influence of renin–angiotensin–aldosterone (RAAS) genotype on the progression of HCM in children is unknown. Children with HCM (n = 65) were enrolled prospectively across two centers (2001–2005). All subjects were genotyped for five RAAS gene polymorphisms previously associated with LV hypertrophy (pro-LVH): AGT M235T, ACE DD, CMA-1903 A/G, AGTR1 1666 A/C and CYP11B2-344 C/T. Linear regression models, based on maximum likelihood estimates, were created to assess the independent effect of RAAS genotype on LV hypertrophy (LVH). Forty-six subjects were homozygous for <2 and 19 were homozygous for ≥2 pro-LVH RAAS polymorphisms. Mean age at presentation was 9.6 ± 6 years. Forty children had follow-up echocardiograms after a median of 1.5 years. Indexed LV mass (LVMI) and LV mass z-scores were higher at presentation and follow-up in subjects with ≥2 pro-LVH genotypes compared to those with <2 (P < 0.05). Subjects with ≥2 pro-LVH genotypes also demonstrated a greater increase in septal thickness (IVST) and in LV outflow tract (LVOT) obstruction on follow-up (P < 0.05). On multivariate analysis, a higher number of pro-LVH genotypes was associated with a larger effect size (P < 0.05). Pro-LVH RAAS gene polymorphisms are associated with progressive septal hypertrophy and LVOT obstruction in children with HCM. Identification of RAAS modifier genes may help to risk-stratify patients with HCM.
Starting Page	515
Ending Page	523
Page Count	9
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	122
Issue Number	5
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2007-09-13
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Metabolic Diseases Internal Medicine Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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