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Review
. 2013 Oct;15(10):399.
doi: 10.1007/s11886-013-0399-6.

Mendelian forms of structural cardiovascular disease

Calum A MacRae  1
Affiliations
Review

Mendelian forms of structural cardiovascular disease

Calum A MacRae. Curr Cardiol Rep. 2013 Oct.

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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Conflict of interest statement

Compliance with Ethics Guidelines

Conflict of Interest

Calum A. MacRae has received royalties for genetic testing for HCM.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

Figures

Figure 1
Figure 1
The classic view of HCM and DCM as discrete biological pathways has been challenged by recent molecular genetic studies, although the physiologic profiles are clearly distinct. Hypertrophy is known to progress to dilatation in many situations, including in some familial cardiomyopathies. However, a single mutation in different individuals within the same family may cause hypertrophy or dilatation, as a result, it is presumed, of genetic or environmental modifiers. Understanding the mechanisms favoring the development of hypertrophy or dilatation will help in the dissection of acquired forms of ventricular remodeling.
Figure 2
Figure 2
Only the systematic assessment of family members of affected probands reveals the true genetic architecture of a syndrome which may be very homogeneous as in some of the cardiomyopathies, or highly heterogeneous as in this example from a study of atrial fibrillation.
Figure 3
Figure 3
Apparently unrelated phenotypes may be mechanistically related from simple clinical observations in extended families. Here left ventricular hypertrophy and ventricular pre-excitation cosegregate in a single pedigree, in a manner consistent with a single autosomal dominant disorder. The study of individual parts of the pedigree, such as the highlighted nuclear family in which hypertrophy is prominent (enlarged symbols), may give a distorted view of the overall nature of the underlying trait.
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References

    1. Braunwald E, Bristow MR. Congestive heart failure: fifty years of progress. Circulation. 2000;102(20 Suppl 4):IV14–23. - PubMed
    1. Goodwin JF. Congestive and hypertrophic cardiomyopathies. A decade of study. Lancet. 1970;1(7650):732–9. - PubMed
    1. Frank S, Braunwald E. Idiopathic hypertrophic subaortic stenosis. Clinical analysis of 126 patients with emphasis on the natural history. Circulation. 1968;37(5):759–88. - PubMed
    1. Yndestad A, Damas JK, Oie E, Ueland T, Gullestad L, Aukrust P. Systemic inflammation in heart failure--the whys and wherefores. Heart Fail Rev. 2006;11(1):83–92. - PubMed
    1. Mann DL, Bristow MR. Mechanisms and models in heart failure: the biomechanical model and beyond. Circulation. 2005;111(21):2837–49. - PubMed

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