{
  "abstract": "Introduction Hypertrophic cardiomyopathy (HCM) is the most common monogenically inherited cardiac condition in our population and is thought to affect 1 in 500 adults. It is characterised by left ventricular hypertrophy and is associated with ventricular arrhythmia and sudden cardiac death. HCM exhibits age related penetrance and it is known that individuals with pathogenic genetic mutations that cause HCM have very variable phenotypic expression of the disease. At present little is known about how to predict a gene positive patient’s clinical course.Aims This study aimed to comprehensively phenotype a group of Northern Irish patients with pathogenic gene mutations for hypertrophic cardiomyopathy. A second aim was to examine the cohort for evidence of correlation of phenotype with biomarkers including N-terminal pro B-natriuretic peptide (NT-pro BNP).Methods 160 patients with known pathogenic mutations associated with HCM from Northern Ireland were recruited to this study and samples of peripheral blood were collected along with extensive clinical data.Results There was a wide variation in the phenotypes recorded. The majority (74.4%) of the cohort were found to be affected with HCM while 25.6% of the gene positive patients remained unaffected by the condition at the time of assessment. NT pro-BNP was seen to correlate strongly with features of HCM including maximal wall thickness (p< 0.0001) ( figure 1), ESC risk score (p< 0.0001), history of ventricular tachycardia (p< 0.0001) and presence of late gadolinium enhancement on cardiac MRI (p< 0.0001). NT pro-BNP levels were significantly higher in those patients affected with a phenotype of HCM (mean NT-pro BNP = 475.0 pg/ml) compared to unaffected individuals (mean NT-pro BNP = 55.9 pg/ml) (p< 0.0001) (figure 2). NT-pro BNP value of >125 pg/ml had a positive predictive value of 97.1% and sensitivity of 73.9% for identifying patients affected with HCM phenotype within the cohort.Abstract 1-029 Figure 1Correlation of maximal wall thickness with NT-pro BNP in patients with pathogenic gene mutations for hypertrophic cardiomyopathyAbstract 1-029 Figure 2Between group difference in NT-pro BNP values in patients with pathogenic gene mutations for hypertrophic cardiomyopathy who were affected and unaffected with phenotypeConclusion NT pro-BNP is a readily available clinical test that may be of utility in the identification of affected individuals and also higher risk patients in gene positive populations. In the current clinical climate with long waiting lists this may help clinicians time follow-up and prioritise imaging and review appointments.",
  "authors": [
    {
      "affiliations": [
        "Belfast Health and Social Care Trust, Belfast, UK"
      ],
      "name": "Katie Linden"
    },
    {
      "affiliations": [
        "Belfast Health and Social Care Trust, Belfast, UK"
      ],
      "name": "Alison Muir"
    },
    {
      "affiliations": [
        "Queen’s University Belfast, Belfast, UK"
      ],
      "name": "Mark Harbinson"
    },
    {
      "affiliations": [
        "Queen’s University Belfast, Belfast, UK"
      ],
      "name": "Patrick Savage"
    },
    {
      "affiliations": [
        "Queen’s University Belfast, Belfast, UK"
      ],
      "name": "Chris Watson"
    }
  ],
  "title": "1-029 Utility of NT-pro BNP in patients with pathogenic gene mutations for hypertrophic cardiomyopathy",
  "uid": "638ccc1a-1ceb-5fce-8da9-643fcc5183bb"
}