Shared genetic causes of cardiac hypertrophy in children and adults.

The New England Journal of Medicine
Hiroyuki MoritaC E Seidman

Abstract

The childhood onset of idiopathic cardiac hypertrophy that occurs without a family history of cardiomyopathy can portend a poor prognosis. Despite morphologic similarities to genetic cardiomyopathies of adulthood, the contribution of genetics to childhood-onset hypertrophy is unknown. We assessed the family and medical histories of 84 children (63 boys and 21 girls) with idiopathic cardiac hypertrophy diagnosed before 15 years of age (mean [+/-SD] age, 6.99+/-6.12 years). We sequenced eight genes: MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL3, MYL2, and ACTC. These genes encode sarcomere proteins that, when mutated, cause adult-onset cardiomyopathies. We also sequenced PRKAG2 and LAMP2, which encode metabolic proteins; mutations in these genes can cause early-onset ventricular hypertrophy. We identified mutations in 25 of 51 affected children without family histories of cardiomyopathy and in 21 of 33 affected children with familial cardiomyopathy. Among 11 of the 25 children with presumed sporadic disease, 4 carried new mutations and 7 inherited the mutations. Mutations occurred predominantly (in >75% of the children) in MYH7 and MYBPC3; significantly more MYBPC3 missense mutations were detected than occur in adult-onset cardiomyopath...Continue Reading

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References

Apr 20, 1995·The New England Journal of Medicine·H WatkinsJ G Seidman
Jan 11, 2000·Nucleic Acids Research·S T SherryK Sirotkin
Jan 30, 2002·Circulation·Hideshi NiimuraChristine E Seidman
Feb 6, 2002·The Journal of Clinical Investigation·Michael AradChristine E Seidman
Feb 25, 2003·Journal of the American College of Cardiology·Vincent ProbstHervé Le Marec
Apr 25, 2003·The New England Journal of Medicine·Alan W NugentUNKNOWN National Australian Childhood Cardiomyopathy Study
Apr 25, 2003·The New England Journal of Medicine·Steven E LipshultzSteven D Colan
Jul 16, 2003·Cold Spring Harbor Symposia on Quantitative Biology·H MoritaJ G Seidman
Aug 28, 2004·Pediatric Clinics of North America·Barry J Maron
Sep 11, 2004·Journal of the American College of Cardiology·Sara L Van DriestMichael J Ackerman
Nov 3, 2004·Journal of the American College of Cardiology·Sara L Van DriestMichael J Ackerman
Dec 4, 2004·American Journal of Medical Genetics. Part a·Amy E RobertsRaju S Kucherlapati
Jan 28, 2005·The New England Journal of Medicine·Michael AradJ G Seidman
Feb 16, 2005·Current Opinion in Cardiology·Anji T Yetman, Brian W McCrindle
Aug 24, 2005·Circulation·Alan W NugentUNKNOWN National Australian Childhood Cardiomyopathy Study
Dec 19, 2006·Expert Review of Cardiovascular Therapy·Joanne M LindChristopher Semsarian
Mar 10, 2007·Circulation Research·Adriana OsioAli J Marian

❮ Previous
Next ❯

Citations

May 4, 2010·BMC Medical Genetics·María Isabel Rodríguez-GarcíaManuel Hermida-Prieto
Jan 10, 2009·PLoS Genetics·David BurgnerUNKNOWN International Kawasaki Disease Genetics Consortium
Aug 3, 2013·Biomarkers in Medicine·Caroline J Coats, Perry M Elliott
Dec 25, 2013·Journal of Medical Genetics·Zhong LiuQingfeng Yan
Sep 22, 2010·Journal of Cardiovascular Translational Research·Boon Yew TanDaniel P Judge
Aug 12, 2014·Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology·Atsuko SekiMichael C Fishbein
Feb 4, 2010·Current Opinion in Cardiology·Tetsuo KonnoChristine E Seidman
Dec 18, 2010·Nature Reviews. Genetics·Albert-László BarabásiJoseph Loscalzo
Dec 31, 2010·World Journal of Cardiology·Giuseppe NovelliJawahar L Mehta
Sep 3, 2011·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Priya MuthuDanuta Szczesna-Cordary
Feb 18, 2012·The New England Journal of Medicine·Daniel S HermanChristine E Seidman
Feb 12, 2013·Journal of Medical Genetics·Luis R LopesPerry M Elliott
Nov 26, 2009·Current Treatment Options in Cardiovascular Medicine·Steven J FowlerSilvia G Priori
Nov 11, 2010·Current Treatment Options in Cardiovascular Medicine·Daniel P Judge, Rosanne Rouf
Oct 12, 2012·Journal of Genetic Counseling·Erin M MillerStephanie M Ware
May 31, 2012·Cellular and Molecular Life Sciences : CMLS·Mirco MüllerHans Georg Mannherz
Jun 21, 2011·Yi chuan = Hereditas·Yan-Rui SongQing-Feng Yan
Jun 19, 2010·Journal of Cardiovascular Translational Research·Erin M DemoSamantha Baxter
Jun 19, 2010·Journal of Cardiovascular Translational Research·Cécile SkrzyniaSamantha M Baxter
Jun 19, 2010·Journal of Cardiovascular Translational Research·Iacopo OlivottoMagdi H Yacoub
Jun 19, 2010·Journal of Cardiovascular Translational Research·Hiroyuki MoritaChristine E Seidman
Nov 5, 2009·Cardiology in the Young·Stuart BergerJoseph A Dearani
Dec 3, 2014·Journal of Molecular and Cellular Cardiology·David BarefieldSakthivel Sadayappan
Dec 12, 2013·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Jonathan ForseyLuc Mertens
Apr 22, 2015·Clinica Chimica Acta; International Journal of Clinical Chemistry·Andrey S GlotovVladislav S Baranov
May 5, 2012·Journal of Cardiac Failure·Steven J KindelStephanie M Ware
Nov 9, 2011·Heart Rhythm : the Official Journal of the Heart Rhythm Society·English Flack, Prince J Kannankeril
Aug 16, 2011·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Barry J MaronChristopher Semsarian
Jul 12, 2011·Progress in Pediatric Cardiology·Stephanie M Ware
Oct 23, 2010·Molecular Genetics and Metabolism·Bo ChangUNKNOWN Noncompaction study collaborators
Mar 4, 2009·Journal of Cardiac Failure·Ray E HershbergerUNKNOWN Heart Failure Society of America
Mar 26, 2009·Pharmacology & Therapeutics·Raphael Schiffmann
Sep 12, 2015·Gene·Lucie CarrierFriederike Cuello

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