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)
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
"When you see a fork in the road, take it"-Yogi Berra
Neth Heart J. 2023 Jul 24. doi: 10.1007/s12471-023-01801-3. Online ahead of print.NO ABSTRACTPMID:37488329 | DOI:10.1007/s12471-023-01801-3 (Source: Netherlands Heart Journal)
Source: Netherlands Heart Journal - July 24, 2023 Category: Cardiology Authors: Yigal M Pinto Martin E W Hemels Source Type: research
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)
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
"When you see a fork in the road, take it"-Yogi Berra
Neth Heart J. 2023 Jul 24. doi: 10.1007/s12471-023-01801-3. Online ahead of print.NO ABSTRACTPMID:37488329 | DOI:10.1007/s12471-023-01801-3 (Source: Netherlands Heart Journal)
Source: Netherlands Heart Journal - July 24, 2023 Category: Cardiology Authors: Yigal M Pinto Martin E W Hemels Source Type: research
Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy
CONCLUSION: There was no association between the amount of exercise and the susceptibility to develop ARVC, DCM, VA or HF in PLN p.(Arg14del) carriers. This suggested unaffected PLN p.(Arg14del) carriers can safely perform mild-moderate exercise, in contrast to desmosomal variant carriers and ARVC patients.PMID:37474840 | DOI:10.1007/s12471-023-01800-4 (Source: Netherlands Heart Journal)
Source: Netherlands Heart Journal - July 20, 2023 Category: Cardiology Authors: Freyja H M van Lint Fahima Hassanzada Tom E Verstraelen Weijia Wang Laurens P Bosman Paul A van der Zwaag Toon Oomen Hugh Calkins Brittney Murray Crystal Tichnell Thais M A Beuren Folkert W Asselbergs Arjan Houweling Maarten P van den Berg Arthur A M Wild Source Type: research
