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Review
. 2001 Aug;69(2):249-60.
doi: 10.1086/321978. Epub 2001 Jul 6.

Many roads lead to a broken heart: the genetics of dilated cardiomyopathy

J Schönberger  1 , C E Seidman
Affiliations
Review

Many roads lead to a broken heart: the genetics of dilated cardiomyopathy

J Schönberger et al. Am J Hum Genet. 2001 Aug.
No abstract available

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Figures

Figure 1
Figure 1
Echocardiographic view of the normal and a dilated heart. Left panel, Parasternal long-axis view of a normal heart in end-diastole, illustrating normal left-ventricular (LV) wall thickness (1.2 cm; curved lines) and cavity dimensions. A normal-sized left atrium (LA) and aortic root (Ao) are shown on this view. Right panel, Dilated cardiomyopathy causing marked increases in the LV diastolic diameter (7.7 cm, arrowed line) and LA enlargement.
Figure 2
Figure 2
Diversity of phenotypes accompanying heritable dilated cardiomyopathy. A, Electrocardiographic tracings, revealing conduction-system abnormalities in patients with dilated cardiomyopathy. Top, First-degree atrioventricular (AV) block with prolonged interval (horizonal bar = .4 s) between atrial P wave (↓) and subsequent ventricular QRS wave. Middle, Second-degree AV block; note that a QRS complex does not follow the third or sixth P wave. Bottom, Presence of atrial fibrillation, with absence of P waves and irregular rhythm of ventricular QRS complexes. B, Plantar (and palmar) keratosis, which accompanies dilated cardiomyopathy in Naxos syndrome. C, Audiogram showing normal hearing (triangles) in comparison to sensorineural hearing loss in patients with dilated cardiomyopathy due to a mutation at chromosome 6q23-24. White circles (○) and crosses (×) denote sound transmitted through air into the right and left ear, respectively. Note that hearing loss is symmetric and affects air and bony (black circles [●]) transmission of sound.
Figure 3
Figure 3
Schematic of the multiple mechanisms leading to dilated cardiomyopathy. Insufficiencies of force production and force transmission, deficits of myocyte energy, and apoptosis or necrosis can each result in ventricular dilation and deficits in myocardial contraction. Note that single gene mutations (inside circle) and some acquired causes (outside circle) of dilated cardiomyopathy perturb the same pathways. The functional consequences of some mutations remain unknown.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. American Heart Association, http://americanheart.org/ (for cardiovascular disease statistics)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for dilated cardiomyopathy [MIM 601494, MIM 191045, MIM 604145, MIM 601411, MIM 605582, MIM 600884, MIM 160760, MIM 102540, MIM 191010], mitral valve prolapse and dilated cardiomyopathy [MIM 601494], conduction-system disease and dilated cardiomyopathy [MIM 150330, MIM 604288, MIM 601154], muscular dystrophies and dilated cardiomyopathy [MIM 126560, MIM 602067], sensorineural hearing loss and dilated cardiomyopathy [MIM 605362], ARVD [MIM 600996, MIM 602087, MIM 604400, MIM 604401, MIM 602086, MIM 107970], Naxos syndrome [MIM 601214], dilated cardiomyopathy with woolly hair and keratoderma [MIM 605676], Barth syndrome [MIM 302060], and X-linked dilated cardiomyopathy [MIM 302045])

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