Literature DB >> 24046092

Mendelian forms of structural cardiovascular disease.

Calum A MacRae1.   

Abstract

Clinical and molecular genetics are inextricably linked. In the last two decades genetic studies have revealed the causes of several forms of structural heart disease. Recent work is extending the insights from inherited arrhythmias and cardiomyopathies to other forms of heart disease. In this review we outline the current state of the art for the genetics of adult structural heart disease, in particular the cardiomyopathies, valvular heart disease and aortic disease. The general approaches are described with a focus on clinical relevance, while potential areas for imminent innovation in diagnosis and therapeutics are highlighted.

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Year:  2013        PMID: 24046092      PMCID: PMC3884814          DOI: 10.1007/s11886-013-0399-6

Source DB:  PubMed          Journal:  Curr Cardiol Rep        ISSN: 1523-3782            Impact factor:   2.931


  111 in total

1.  The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy.

Authors:  V V Michels; P P Moll; F A Miller; A J Tajik; J S Chu; D J Driscoll; J C Burnett; R J Rodeheffer; J H Chesebro; H D Tazelaar
Journal:  N Engl J Med       Date:  1992-01-09       Impact factor: 91.245

2.  Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

Authors:  T M Olson; V V Michels; S N Thibodeau; Y S Tai; M T Keating
Journal:  Science       Date:  1998-05-01       Impact factor: 47.728

3.  Congestive and hypertrophic cardiomyopathies. A decade of study.

Authors:  J F Goodwin
Journal:  Lancet       Date:  1970-04-11       Impact factor: 79.321

4.  Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.

Authors:  K Poetter; H Jiang; S Hassanzadeh; S R Master; A Chang; M C Dalakas; I Rayment; J R Sellers; L Fananapazir; N D Epstein
Journal:  Nat Genet       Date:  1996-05       Impact factor: 38.330

5.  A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16.

Authors:  N Sylvius; F Tesson; C Gayet; P Charron; A Bénaïche; M Peuchmaurd; L Duboscq-Bidot; J Feingold; J S Beckmann; C Bouchier; M Komajda
Journal:  Am J Hum Genet       Date:  2000-11-20       Impact factor: 11.025

6.  Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24.

Authors:  J Schönberger; H Levy; E Grünig; S Sangwatanaroj; D Fatkin; C MacRae; H Stäcker; C Halpin; R Eavey; E F Philbin; H Katus; J G Seidman; C E Seidman
Journal:  Circulation       Date:  2000-04-18       Impact factor: 29.690

7.  Angiotensin II blockade and aortic-root dilation in Marfan's syndrome.

Authors:  Benjamin S Brooke; Jennifer P Habashi; Daniel P Judge; Nishant Patel; Bart Loeys; Harry C Dietz
Journal:  N Engl J Med       Date:  2008-06-26       Impact factor: 91.245

8.  NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

Authors:  Kim L McBride; Maurisa F Riley; Gloria A Zender; Sara M Fitzgerald-Butt; Jeffrey A Towbin; John W Belmont; Susan E Cole
Journal:  Hum Mol Genet       Date:  2008-06-30       Impact factor: 6.150

9.  Linkage of familial dilated cardiomyopathy to chromosome 9. Heart Muscle Disease Study Group.

Authors:  M Krajinovic; B Pinamonti; G Sinagra; M Vatta; G M Severini; J Milasin; A Falaschi; F Camerini; M Giacca; L Mestroni
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

10.  Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy.

Authors:  R Coral-Vazquez; R D Cohn; S A Moore; J A Hill; R M Weiss; R L Davisson; V Straub; R Barresi; D Bansal; R F Hrstka; R Williamson; K P Campbell
Journal:  Cell       Date:  1999-08-20       Impact factor: 41.582

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  2 in total

Review 1.  Heart failure in single right ventricle congenital heart disease: physiological and molecular considerations.

Authors:  Anastacia M Garcia; Jonathan-Thomas Beatty; Stephanie J Nakano
Journal:  Am J Physiol Heart Circ Physiol       Date:  2020-02-28       Impact factor: 4.733

2.  Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery.

Authors:  Krishna G Aragam; Mark Chaffin; Rebecca T Levinson; Gregory McDermott; Seung-Hoan Choi; M Benjamin Shoemaker; Mary E Haas; Lu-Chen Weng; Mark E Lindsay; J Gustav Smith; Christopher Newton-Cheh; Dan M Roden; Barry London; Quinn S Wells; Patrick T Ellinor; Sekar Kathiresan; Steven A Lubitz
Journal:  Circulation       Date:  2018-11-11       Impact factor: 29.690

  2 in total

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