Abstract
Dilated cardiomyopathy (DCM) is a heterogeneous group of heart diseases with a strong genetic background. Currently, many human DCM cases exist where no causative mutation can be identified. DCM also occurs with high prevalence in several large dog breeds. In the Doberman Pinscher a specific DCM form characterized by arrhythmias and/or echocardiographic changes has been intensively studied by veterinary cardiologists. We performed a genome-wide association study in Doberman Pinschers. Using 71 cases and 70 controls collected in Germany we identified a genome-wide significant association to DCM on chromosome 5. We validated the association in an independent cohort collected in the United Kingdom. There is no known DCM candidate gene under the association signal. Therefore, DCM in Doberman Pinschers offers the chance of identifying a novel DCM gene that might also be relevant for human health.
Highlights
Cardiomyopathies are a heterogeneous group of diseases, which can be inherited or associated with specific cardiac or systemic disorders
dilated cardiomyopathy (DCM) in Doberman Pinschers can present with electrical derangements, such as arrhythmias that can be monitored by the Holter electrocardiogram and/or with morphological changes, such as a dilation of the heart that can be seen by echocardiogram
Many Doberman Pinschers with DCM show a combination of both symptoms
Summary
Cardiomyopathies are a heterogeneous group of diseases, which can be inherited or associated with specific cardiac or systemic disorders. Human primary cardiomyopathies are usually divided into five main pathological groups: dilated, hypertrophic, restrictive, arrhythmogenic right ventricular, and unclassified cardiomyopathies [1]. They may be caused by one or several genetic mutations. Cardiomyopathies may be idiopathic, or secondary post-inflammatory, following a generalized systemic disorder. In humans the prevalence of dilated cardiomyopathy (DCM) is 36.5/100,000 [2]. Inherited forms make up to 35% of the cases [3] and are mostly inherited as monogenic autosomal dominant traits [4]
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