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Homozygous missense MYBPC3 Pro873His mutation associated with increased risk for heart failure development in hypertrophic cardiomyopathy
Linköping University, Department of Medical and Health Sciences, Division of Cardiovascular Medicine. Linköping University, Faculty of Medicine and Health Sciences. Cty Council Jonkoping, Sweden.
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics.
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics.
Linköping University, Department of Medical and Health Sciences, Division of Cardiovascular Medicine. Linköping University, Faculty of Medicine and Health Sciences. Cty Council Jonkoping, Sweden.
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2018 (English)In: ESC Heart Failure, E-ISSN 2055-5822, Vol. 5, no 4, p. 716-723Article in journal (Refereed) Published
Abstract [en]

Hypertrophic cardiomyopathy (HCM) is a primary autosomal-dominant disorder of the myocardium with variable expressivity and penetrance. Occasionally, homozygous sarcomere genetic variants emerge while genotyping HCM patients. In these cases, a more severe HCM phenotype is generally seen. Here, we report a case of HCM that was diagnosed clinically at 39years of age. Initial symptoms were shortness of breath during exertion. Successively, he developed a wide array of severe clinical manifestations, which progressed to an ominous end-stage heart failure that resulted in heart transplantation. Genotype analysis revealed a missense MYBPC3 variant NM_000256.3:c.2618Camp;gt;A,p.(Pro873His) that presented in the homozygous form. Conflicting interpretations of pathogenicity have been reported for the Pro873His MYBPC3 variant described here. Our patient, presenting with two copies of the variant and devoid of a normal allele, progressed to end-stage heart failure, which supports the notion of a deleterious effect of this variant in the homozygous form.

Place, publisher, year, edition, pages
WILEY PERIODICALS, INC , 2018. Vol. 5, no 4, p. 716-723
Keywords [en]
HCM; MYBPC3; Homozygous; Heart failure
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:liu:diva-150214DOI: 10.1002/ehf2.12288ISI: 000440649400022PubMedID: 29663722OAI: oai:DiVA.org:liu-150214DiVA, id: diva2:1240817
Note

Funding Agencies|Region Ostergotland (ALF) [LIO-609681]; FORSS (Medical Research Council of Southeast Sweden) [FORSS/572421]

Available from: 2018-08-22 Created: 2018-08-22 Last updated: 2018-09-11

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