MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

CONCLUSION: MYH7 p.(Arg1712Gln) is a pathogenic founder variant with a consistent HCM phenotype that may present with delayed penetrance. This suggested that clinical follow-up should be pursued after the seventh decade in healthy carriers and that longer intervals between screening may be justified in healthy women < 30 years.PMID:37488328 | DOI:10.1007/s12471-023-01798-9

Source: Netherlands Heart Journal - July 24, 2023 Category: Cardiology Authors: Luisa Marsili Freyja H M van Lint Francesco Russo Karin Y van Spaendonck-Zwarts Flavie Ader Marie-Line Bichon Laurence Faivre Arjan C Houweling Bertrand Isidor Ronald H Lekanne Deprez Moniek G P J Cox Arthur A M Wilde Benoit Mazel Sandra Mercier Dennis Do Source Type: research