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Figure 1 Pedigrees of families with different forms of familial dilated cardiomyopathy (FDC). 1. AD-FDC1: the key members of this family after the last follow-up screening (1997), consistent with autosomal dominant inheritance (male to male transmission) and age-related penetrance (almost complete absence of affected in the last generation). 2. AR-FDC3: autosomal recessive FDC, in which the affected were respectively 12 and 16 years old at diagnosis. 3. XLDC2: FDC with X-linked transmission, in this family due to a deletion of exons 48–49 (24). 4. MDDC1: autosomal dominant transmission and subclinical skeletal muscle involvement. 5. AD-HDC1: a form of unclassifiable FDC with autosomal dominant transmission and a phenotype characterized by mild dilation, systolic dysfunction and apical hypertrophy. 6. AR-RPDC1: another unclassifiable FDC with autosomal recessive transmission associated with retinitis pigmentosa and hearing loss. Finally, CDDC1: autosomal dominant family with conduction defects and subsequent development of severe ventricular dilation and dysfunction. Individuals are indicated by generation and pedigree number. Affected status is indicated by filled symbols, unaffected status by clear symbols and unknown status (individuals with equivocal or suspected dilated cardiomyopathy) by gray symbols. The probands are indicated by arrows.
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