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http://purl.uniprot.org/citations/26497160http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26497160http://www.w3.org/2000/01/rdf-schema#comment"

Aims

Phenotypic heterogeneity and incomplete penetrance are common in patients with hypertrophic cardiomyopathy (HCM). We aim to improve the understanding in genotype-phenotype correlations in HCM, particularly the contribution of an MYL2 founder mutation and risk factors to left ventricular hypertrophic remodelling.

Methods and results

We analysed 14 HCM families of whom 38 family members share the MYL2 c.64G > A [p.(Glu22Lys)] mutation and a common founder haplotype. In this unique cohort, we investigated factors influencing phenotypic outcome in addition to the primary mutation. The mutation alone showed benign disease manifestation with low penetrance. The co-presence of additional risk factors for hypertrophy such as hypertension, obesity, or other sarcomeric gene mutation increased disease penetrance substantially and caused HCM in 89% of MYL2 mutation carriers (P = 0.0005). The most prominent risk factor was hypertension, observed in 71% of mutation carriers with HCM and an additional risk factor.

Conclusion

The MYL2 mutation c.64G > A on its own is incapable of triggering clinical HCM in most carriers. However, the presence of an additional risk factor for hypertrophy, particularly hypertension, adds to the development of HCM. Early diagnosis of risk factors is important for early treatment of MYL2 mutation carriers and close monitoring should be guaranteed in this case. Our findings also suggest that the presence of hypertension or another risk factor for hypertrophy should not be an exclusion criterion for genetic studies."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.org/dc/terms/identifier"doi:10.1093/eurheartj/ehv522"xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Brunner H.G."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Smeets H.J."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Perrot A."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Marcelis C.L."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"van Tintelen J.P."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"van den Wijngaard A."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"van den Berg M.P."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Christiaans I."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Garcia-Pavia P."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Salemink S."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Janssen J.W."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Volders P.G."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Paulussen A.D."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Krapels I.P."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"van Tienen F.H."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Helderman-van den Enden A.T."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Lindsey P."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Sels J.W."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Barrois Y.E."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Claes G.R."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Heesen W.F."xsd:string
http://purl.uniprot.org/citations/26497160http://purl.uniprot.org/core/author"Hoos M.B."xsd:string
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