Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy-causing mutations in the beta-myosin heavy chain, alpha-tropomyosin, and myosin-binding protein C genes

American Heart Journal
Tuija PoutanenJohanna Kuusisto

Abstract

We investigated the presence of left ventricular hypertrophy (LVH) and features of diastolic dysfunction in genotype-confirmed children from families with hypertrophic cardiomyopathy (HCM) and healthy control children. In subjects with HCM-causing mutations, LVH usually does not evolve until adolescence. Diastolic dysfunction has not been systematically evaluated in children carrying HCM-causing mutations. All children (aged 1.5-16.7 years) from 14 HCM families with identified disease-causing mutations (the Arg719Trp mutation in the beta-myosin heavy chain gene [MYH7], the Asp175Asn mutation in the alpha-tropomyosin gene [TPM1], the Gln1061X mutation in the myosin-binding protein C gene [MYBPC3], and the IVS5-2A-->C mutation in the MYBPC3 gene) and 53 matched control children were examined with electrocardiography and 2- and 3-dimensional echocardiography (2DE and 3DE). Natriuretic peptides were measured in children from HCM families and 67 control children. Of 53 children from HCM families, 27 (51%) had a disease-causing mutation (G+). G+ children had slightly thicker septum on 2DE compared with the control children (P = .004), but only 3 (11%) of 27 G+ children exceeded the 95th percentile values of the body surface area-adju...Continue Reading

References

Jan 15, 1990·The American Journal of Cardiology·R A Stewart, W J McKenna
May 3, 1996·Science·A A Geisterfer-LowranceJ G Seidman
Nov 1, 1996·Journal of the American College of Cardiology·K NishigakiH Fujiwara
Dec 11, 1999·Journal of Molecular and Cellular Cardiology·P JääskeläinenJ Kuusisto
Mar 29, 2001·Journal of Molecular and Cellular Cardiology·A J Marian, R Roberts
Jul 12, 2002·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Pertti JääskeläinenMarkku Laakso
Nov 29, 2002·Pediatric Cardiology·T Poutanen, T Tikanoja
Jun 5, 2003·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Michael G EaringPatrick W O'Leary

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Citations

Nov 5, 2009·Cardiology in the Young·Stuart BergerJoseph A Dearani
Feb 22, 2008·Journal of Veterinary Internal Medicine·D J ConnollyM Metcalf
Jan 21, 2014·Pflügers Archiv : European journal of physiology·Carl W TongPaola C Rosas
Nov 15, 2013·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Jadranka StojanovskaGisela C Mueller
Nov 17, 2015·Expert Review of Cardiovascular Therapy·Adaya Weissler-SnirHarry Rakowski
Jul 11, 2014·Pflügers Archiv : European journal of physiology·Aref NajafiJolanda van der Velden
Sep 28, 2010·Heart Failure Clinics·Steven D Colan
Dec 13, 2017·Journal of Clinical Medicine·Alphonsus C LiewClaire E Raphael
Mar 7, 2017·Frontiers in Cardiovascular Medicine·Dilveer Kaur Panesar, Michael Burch
Jan 25, 2019·Science Translational Medicine·Christopher N ToepferChristine E Seidman
Apr 30, 2021·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Simone JhaveriKenneth Zahka

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