Literature DB >> 20394946

A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation.

Robert B Hinton1, Erik C Michelfelder, Bradley S Marino, Kevin E Bove, Stephanie M Ware.   

Abstract

Cardiomyopathy is a significant clinical problem associated with sudden death. A molecular taxonomy is emerging that is refining the clinical classification system. We describe a patient with a pathogenic familial beta-myosin heavy chain mutation who was prenatally diagnosed with left ventricular hypoplasia and restrictive diastolic physiology. Copyright (c) 2010 Mosby, Inc. All rights reserved.

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Year:  2010        PMID： 20394946      PMCID： PMC2886151          DOI： 10.1016/j.jpeds.2010.02.044

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  4 in total

Review 1.  A contemporary approach to hypertrophic cardiomyopathy.

Authors:  Carolyn Y Ho; Christine E Seidman
Journal:  Circulation       Date:  2006-06-20       Impact factor: 29.690

2.  Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain.

Authors:  S M Ware; M E Quinn; E T Ballard; E Miller; K Uzark; R L Spicer
Journal:  Clin Genet       Date:  2007-12-12       Impact factor: 4.438

3.  Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.

Authors:  Toru Kubo; Juan R Gimeno; Ajay Bahl; Ulla Steffensen; Morten Steffensen; Eyman Osman; Rajesh Thaman; Jens Mogensen; Perry M Elliott; Yoshinori Doi; William J McKenna
Journal:  J Am Coll Cardiol       Date:  2007-06-11       Impact factor: 24.094

4.  Hypertrophic cardiomyopathy in infants: clinical features and natural history.

Authors:  B J Maron; A J Tajik; H D Ruttenberg; T P Graham; G F Atwood; B E Victorica; J T Lie; W C Roberts
Journal:  Circulation       Date:  1982-01       Impact factor: 29.690
  4 in total
  2 in total

1.  A Restrictive Cardiomyopathy Mutation in an Invariant Proline at the Myosin Head/Rod Junction Enhances Head Flexibility and Function, Yielding Muscle Defects in Drosophila.

Authors:  Madhulika Achal; Adriana S Trujillo; Girish C Melkani; Gerrie P Farman; Karen Ocorr; Meera C Viswanathan; Gaurav Kaushik; Christopher S Newhard; Bernadette M Glasheen; Anju Melkani; Jennifer A Suggs; Jeffrey R Moore; Douglas M Swank; Rolf Bodmer; Anthony Cammarato; Sanford I Bernstein
Journal:  J Mol Biol       Date:  2016-04-20       Impact factor: 5.469

2.  Intrauterine Treatment of a Fetus with Familial Hypertrophic Cardiomyopathy Secondary to MYH7 Mutation.

Authors:  Meghan G Hill; Mehtab K Sekhon; Kathryn L Reed; Caroline F Anderson; Nydia D Borjon; Jil C Tardiff; Brent J Barber
Journal:  Pediatr Cardiol       Date:  2015-09-04       Impact factor: 1.655
  2 in total

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