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The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy

The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left... Original Articles The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy Yvonne M. Hoedemaekers, MD; Kadir Caliskan, MD; Michelle Michels, MD; Ingrid Frohn-Mulder, MD; Jasper J. van der Smagt, MD; Judith E. Phefferkorn, RN; Marja W. Wessels, MD, PhD; Folkert J. ten Cate, MD, PhD; Eric J.G. Sijbrands, MD, PhD; Dennis Dooijes, PhD; Danielle F. Majoor-Krakauer, MD, PhD Background—Left ventricular (LV) noncompaction (LVNC) is a distinct cardiomyopathy featuring a thickened bilayered LV wall consisting of a thick endocardial layer with prominent intertrabecular recesses with a thin, compact epicardial layer. Similar to hypertrophic and dilated cardiomyopathy, LVNC is genetically heterogeneous and was recently associated with mutations in sarcomere genes. To contribute to the genetic classification for LVNC, a systematic cardiological family study was performed in a cohort of 58 consecutively diagnosed and molecularly screened patients with isolated LVNC (49 adults and 9 children). Methods and Results—Combined molecular testing and cardiological family screening revealed that 67% of LVNC is genetic. Cardiological screening with electrocardiography and echocardiography of 194 relatives from 50 unrelated LVNC probands revealed familial cardiomyopathy in 32 families (64%), including LVNC, hypertrophic cardiomyopathy, and dilated cardiomyopathy. Sixty-three percent of the relatives newly http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Circulation: Cardiovascular Genetics Wolters Kluwer Health

The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy

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ISSN
1942-325X
eISSN
1942-3268
DOI
10.1161/CIRCGENETICS.109.903898
pmid
20530761
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Abstract

Original Articles The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy Yvonne M. Hoedemaekers, MD; Kadir Caliskan, MD; Michelle Michels, MD; Ingrid Frohn-Mulder, MD; Jasper J. van der Smagt, MD; Judith E. Phefferkorn, RN; Marja W. Wessels, MD, PhD; Folkert J. ten Cate, MD, PhD; Eric J.G. Sijbrands, MD, PhD; Dennis Dooijes, PhD; Danielle F. Majoor-Krakauer, MD, PhD Background—Left ventricular (LV) noncompaction (LVNC) is a distinct cardiomyopathy featuring a thickened bilayered LV wall consisting of a thick endocardial layer with prominent intertrabecular recesses with a thin, compact epicardial layer. Similar to hypertrophic and dilated cardiomyopathy, LVNC is genetically heterogeneous and was recently associated with mutations in sarcomere genes. To contribute to the genetic classification for LVNC, a systematic cardiological family study was performed in a cohort of 58 consecutively diagnosed and molecularly screened patients with isolated LVNC (49 adults and 9 children). Methods and Results—Combined molecular testing and cardiological family screening revealed that 67% of LVNC is genetic. Cardiological screening with electrocardiography and echocardiography of 194 relatives from 50 unrelated LVNC probands revealed familial cardiomyopathy in 32 families (64%), including LVNC, hypertrophic cardiomyopathy, and dilated cardiomyopathy. Sixty-three percent of the relatives newly

Journal

Circulation: Cardiovascular Genetics – Wolters Kluwer Health

Published: Jun 1, 2010

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