Literature DB >> 29943241

[Modern genetic counselling : Practical aspects exemplified by hypertrophic cardiomyopathy].

F Czepluch1, G Hasenfuß2, B Wollnik3.   

Abstract

Genetic counselling and subsequent molecular genetic testing should be performed in patients when an inherited monogenic form of heart disease is suspected. For the individual patient as well as for the (possibly asymptomatic) relatives, molecular diagnostics is important for an early diagnosis, (preventive) therapy and prognosis assessment. Using the example of hypertrophic cardiomyopathy (HCM), the most common monogenic form of structural heart disease, essential aspects of modern genetic counselling are elucidated. Specific examples of one case with a classical form of hypertrophic obstructive cardiomyopathy and one case of congenital HCM with Noonan's syndrome are discussed.

Entities:  

Keywords:  Cardiogenetics; Gene panel; Genetic testing; Noonan syndrome; Pedigree

Mesh:

Year:  2018        PMID: 29943241     DOI: 10.1007/s00108-018-0452-z

Source DB:  PubMed          Journal:  Internist (Berl)        ISSN: 0020-9554            Impact factor:   0.743


  23 in total

Review 1.  Genetic Variation in Cardiomyopathy and Cardiovascular Disorders.

Authors:  Elizabeth M McNally; Megan J Puckelwartz
Journal:  Circ J       Date:  2015-06-04       Impact factor: 2.993

2.  A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD).

Authors:  Constantinos O'Mahony; Fatima Jichi; Menelaos Pavlou; Lorenzo Monserrat; Aristides Anastasakis; Claudio Rapezzi; Elena Biagini; Juan Ramon Gimeno; Giuseppe Limongelli; William J McKenna; Rumana Z Omar; Perry M Elliott
Journal:  Eur Heart J       Date:  2013-10-14       Impact factor: 29.983

Review 3.  Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.

Authors:  Ali J Marian; Eugene Braunwald
Journal:  Circ Res       Date:  2017-09-15       Impact factor: 17.367

4.  Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention.

Authors:  Barry J Maron; Jeffrey A Towbin; Gaetano Thiene; Charles Antzelevitch; Domenico Corrado; Donna Arnett; Arthur J Moss; Christine E Seidman; James B Young
Journal:  Circulation       Date:  2006-03-27       Impact factor: 29.690

5.  Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.

Authors:  Jaya Punetha; Eric P Hoffman
Journal:  Circ Cardiovasc Genet       Date:  2013-07-14

Review 6.  The diagnosis and treatment of hypertrophic cardiomyopathy.

Authors:  Christian Prinz; Martin Farr; Detlef Hering; Dieter Horstkotte; Lothar Faber
Journal:  Dtsch Arztebl Int       Date:  2011-04-01       Impact factor: 5.594

7.  Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

Authors:  M Tartaglia; E L Mehler; R Goldberg; G Zampino; H G Brunner; H Kremer; I van der Burgt; A H Crosby; A Ion; S Jeffery; K Kalidas; M A Patton; R S Kucherlapati; B D Gelb
Journal:  Nat Genet       Date:  2001-12       Impact factor: 38.330

8.  Prevention of sudden cardiac death with implantable cardioverter-defibrillators in children and adolescents with hypertrophic cardiomyopathy.

Authors:  Barry J Maron; Paolo Spirito; Michael J Ackerman; Susan A Casey; Christopher Semsarian; N A Mark Estes; Kevin M Shannon; Euan A Ashley; Sharlene M Day; Giuseppe Pacileo; Francesco Formisano; Emmanuela Devoto; Aristidis Anastasakis; J Martijn Bos; Anna Woo; Camillo Autore; Robert H Pass; Giuseppe Boriani; Ross F Garberich; Adrian K Almquist; Mark W Russell; Luca Boni; Stuart Berger; Martin S Maron; Mark S Link
Journal:  J Am Coll Cardiol       Date:  2013-04-09       Impact factor: 24.094

9.  Noonan syndrome - a new survey.

Authors:  Alireza Tafazoli; Peyman Eshraghi; Zahra Kamel Koleti; Mohammadreza Abbaszadegan
Journal:  Arch Med Sci       Date:  2016-12-19       Impact factor: 3.318

Review 10.  Hypertrophic Cardiomyopathy-Past, Present and Future.

Authors:  Alphonsus C Liew; Vassilios S Vassiliou; Robert Cooper; Claire E Raphael
Journal:  J Clin Med       Date:  2017-12-12       Impact factor: 4.241

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