Evidence for autosomal recessive inheritance of a major gene for bovine dilated cardiomyopathy.

Abstract

The objective of this study was to establish the mode of inheritance of bovine dilated cardiomyopathy (BDCMP). We analyzed a pedigree comprising 75 animals in three age classes and five diagnostic classes based on clinical and pathological findings using the Pedigree Analysis Package. Segregation analyses were performed under three models, a major gene model, a mixed model, and an environment model. Under each model three data sets were analyzed. In the first data set, only animals with clinically manifested BDCMP were considered affected; in the second data set, animals with no clinical findings but with strong pathological evidence were included in the group of affected animals; and in the third data set, this group was extended to include animals that were suspected of having BDCMP. For all three data sets, a recessive allele at a single biallelic major locus controlling the underlying liability fitted the data best. Based on Akaike's information criterion, the major gene model was the most efficient model in all data sets. We conclude that a single biallelic major locus is likely responsible for the disease.

Intra-cardiac autonomic neuropathy in Holstein-Friesian dairy cows affected with bovine dilated cardiomyopathy

“…Although genetic analysis was unavailable in the present three cows, clinical signs of spontaneous heart failure and histopathological features of myocardial lesions were identical to those described previously in most cases of BDC (Tontis et al 1990;Bradley et al 1991;Dolf et al 1998;Furuoka et al 2001;Leifsson and Angerholm 2004;Nart et al 2004a, b;Guziewicz et al 2007). Features of myocardial fibrosis associated with degenerative changes in cardiomyocytes likely corresponded with the duration of illness ranging from 7 to 20 days.…”

“…Clinical symptoms commonly seen in the affected cattle are heart failure, arrhythmia, and sudden death. Typical postmortem findings include a cardiomegaly with dilatation and hypertrophy of all heart chambers, myocardial degeneration, and fibrosis (Tontis et al 1990;Bradley et al 1991;Dolf et al 1998;Nart et al 2004a). Such cardiac lesions have been studied extensively from the histomorphological viewpoint.…”

“…Bovine dilated cardiomyopathy (BDC), which is an autosomal recessive inheritance-associated primary myocardial disease in cattle of Holstein-Friesian origin, has been observed during the last 30 years in livestock worldwide (Satoh 1988;Tontis et al 1990;Bradley et al 1991;Dolf et al 1998;Furuoka et al 2001; Leifsson and Angerholm 2004;Nart et al 2004a, b;Guziewicz et al 2007). All cases of BDC trace back to a red factor-carrying Holstein-Friesian bull, ABC Reflection Sovereign (Leifsson and Angerholm 2004;Owczarek-Lipska et al 2009).…”

Familial Occurrence of Bovine Dilated Cardiomyopathy in Denmark

“…Since the first report of the disease in Switzerland (Martig et al., 1982), further cases have been reported in Japan (Sonoda et al., 1982; Machida et al., 1996), Canada (Baird et al., 1986), Australia (McLennan and Kelly, 1990), the UK (Bradley et al., 1991), Germany (Kümper and Bahnemann, 1992) and Austria (Danzl, 1995). Breeding studies have indicated an autosomal recessive mode of inheritance (Dolf et al., 1998). Although specific information on descent of affected cases mostly has remained unpublished, Swiss researchers reported the Canadian Holstein sire Montwick Red Apple Sovereign (MRAS) as a common ancestor of Swiss, Canadian and Japanese cases (Martig and Reusser, 1988).…”

Inherited Disorders in Danish Cattle

“…HDC is likely to be inherited autosomal recessively as cases have been reported in familial patterns consistent with this mode of inheritance (26,94,253,IX) and breeding studies have demonstrated the expected segregation ratios (67). Recent studies have shown that the locus for HDC is located on chromosome 18 (106) When details of genealogy were provided, a genetic relationship to the Canadian Holstein sire Montvic Rag Apple Sovereign (CAN155159) born in 1942 or his son A B C Reflection Sovereign (CAN198998) was found (94,198,IX).…”