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Value of Genetic Testing for the Prediction of Long-Term Outcome in Patients with Hypertrophic Cardiomyopathy
Abstract Pathogenic gene mutations are found in about 50 % of hypertrophic cardiomyopathy (HC) patients. Previous studies have shown an association between sarcomere mutations and medium-term outcome. The association with long-term outcome has not been described. The aim of this cohort study was to...
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Published in: | The American journal of cardiology 2016-09, Vol.118 (6), p.881-887 |
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Main Authors: | , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | Abstract Pathogenic gene mutations are found in about 50 % of hypertrophic cardiomyopathy (HC) patients. Previous studies have shown an association between sarcomere mutations and medium-term outcome. The association with long-term outcome has not been described. The aim of this cohort study was to assess the long-term outcomes of genotype positive (G+) and genotype negative (G-) HC patients. The study population consisted of 626 HC patients (512 probands, and 114 relatives) who underwent phenotyping and genetic testing between 1985 and 2014. End points were: all-cause mortality, cardiovascular (CV) mortality, heart failure (HF) related mortality and sudden cardiac death/aborted sudden cardiac death (SCD/aborted SCD). Kaplan Meier and multivariate cox regression analyses were performed. A pathogenic mutation was detected in 327 (52%) patients. G+ probands were younger than G- probands (46±15 vs 55±15 years, p |
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ISSN: | 0002-9149 1879-1913 |
DOI: | 10.1016/j.amjcard.2016.06.038 |