Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations
J. Clin. Invest. Jens Mogensen, et al. 111:209 doi:10.1172/JCI16336 [Go to this article.]

Figure 1
Pedigree drawings of restrictive cardiomyopathy families affected by cardiac troponin I mutations. Squares indicate male family members; circles, female family members; symbols with slash, deceased individuals; open symbols, unaffected individuals; filled symbols, individuals affected by RCM (indicated by arrows) or HCM; checkered symbols, individuals who died suddenly; question mark, unknown clinical status. Plus sign indicates presence of mutation, whereas minus sign indicates absence of mutation. Generation II of family H640 consisted of a total of 13 siblings, of which 9 were available for this investigation. Four generation-II siblings were obligate carriers of the mutation (included in the pedigree drawing with their offspring), while five remaining siblings were shown not to carry the mutation. Two of the obligate carriers (III-7, II-3) died suddenly at the age of 40. The remaining obligate carriers (II-1, II-2, II-4), reached the age of 63, 59, and 51 years, respectively. Ten sudden deaths appeared in young individuals who had a 50% chance of having inherited the disease (IV-1/2/4; III-18/20/21/22/23/26/27). Their average age of death was 25 years (16–33 years), and most had symptoms of cardiac disease prior to their death. Individual IV-13 was shown to be a healthy carrier of the mutation at the age of 5 years.