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The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methodology<\/jats:title><jats:p>In this report, we evaluated High Resolution Melting (HRM) robustness, regarding HCM genetic testing, by means of analyzing 28 HCM-associated genes, including the most frequent 4 HCM-associated sarcomere genes, as well as 24 genes with lower reported HCM-phenotype association. We analyzed 80 Portuguese individuals with clinical phenotype of HCM allowing simultaneously a better characterization of this disease in the Portuguese population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>HRM technology allowed us to identify 60 mutated alleles in 72 HCM patients: 49 missense mutations, 3 nonsense mutations, one 1-bp deletion, one 5-bp deletion, one in frame 3-bp deletion, one insertion\/deletion, 3 splice mutations, one 5'UTR mutation in<jats:italic>MYH7<\/jats:italic>,<jats:italic>MYBPC3<\/jats:italic>,<jats:italic>TNNT2<\/jats:italic>,<jats:italic>TNNI3<\/jats:italic>,<jats:italic>CSRP3<\/jats:italic>,<jats:italic>MYH6<\/jats:italic>and<jats:italic>MYL2<\/jats:italic>genes. Significantly 22 are novel gene mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>HRM was proven to be a technique with high sensitivity and a low false positive ratio allowing a rapid, innovative and low cost genotyping of HCM. In a short return, HRM as a gene scanning technique could be a cost-effective gene-based diagnosis for an accurate HCM genetic diagnosis and hopefully providing new insights into genotype\/phenotype correlations.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2350-13-17","type":"journal-article","created":{"date-parts":[[2012,3,19]],"date-time":"2012-03-19T23:14:25Z","timestamp":1332198865000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort"],"prefix":"10.1186","volume":"13","author":[{"given":"Susana","family":"Santos","sequence":"first","affiliation":[]},{"given":"Vanda","family":"Marques","sequence":"additional","affiliation":[]},{"given":"Marina","family":"Pires","sequence":"additional","affiliation":[]},{"given":"Leonor","family":"Silveira","sequence":"additional","affiliation":[]},{"given":"Helena","family":"Oliveira","sequence":"additional","affiliation":[]},{"given":"Vasco","family":"Lan\u00e7a","sequence":"additional","affiliation":[]},{"given":"Dulce","family":"Brito","sequence":"additional","affiliation":[]},{"given":"Hugo","family":"Madeira","sequence":"additional","affiliation":[]},{"given":"J Fonseca","family":"Esteves","sequence":"additional","affiliation":[]},{"given":"Ant\u00f3nio","family":"Freitas","sequence":"additional","affiliation":[]},{"given":"Isabel M","family":"Carreira","sequence":"additional","affiliation":[]},{"given":"Isabel M","family":"Gaspar","sequence":"additional","affiliation":[]},{"given":"Carolino","family":"Monteiro","sequence":"additional","affiliation":[]},{"given":"Alexandra R","family":"Fernandes","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2012,3,19]]},"reference":[{"issue":"2","key":"931_CR1","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1016\/j.hfc.2009.12.001","volume":"6","author":"CY Ho","year":"2010","unstructured":"Ho CY: Hypertrophic cardiomyopathy. 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