Genetic background for peripartum cardiomyopathy

Genetic background for peripartum cardiomyopathy

There could be a genetic background for at least those cases of peripartum cardiomyopathy (PPCM) which do not resolve in the usual pattern in the postpartum period. This has been suggested by a study published in  Circulation,¹ Karin Y. van Spaendonck-Zwarts et al found first degree relatives with undiagnosed dilated cardiomyopathy for all the three peripartum cardiomyopathy in their database who did not show full recovery. Genetic analysis showed that there was as mutation in the gene encoding cardiac troponin C (TNNC1) in one of these families. In addition they also evaluated 90 of the families with dilated cardiomyopathy in their database and found that five families had peripartum cardiomyopathy patients. The authors conclude that in some patients, peripartum cardiomyopathy may be an initial manifestation of familial dilated cardiomyopathy and would benefit from family screening.

Another study² in the same issue of the journal evaluated both peripartum cardiomyopathy (occurring in last month of pregnancy to 5 months postpartum) and pregnancy associated cardiomyopathy (PACM) with onset of dilated cardiomyopathy earlier in pregnancy. They studied 4110 women from 520 pedigrees in their Familial Dilated Cardiomyopathy Research Project database and found 45 cases of PPCM/PACM. Three cases of PPCM were familial with mutations in MYH7, SCN5A and PSEN2. Two of the sporadic cases of PPCM had mutations in MYH6 and TNNT2. One case of PACM had a mutation in MYBPC3.

References

1. van Spaendonck-Zwarts KY, van Tintelen JP, van Veldhuisen DJ, van der Werf R, Jongbloed JD, Paulus WJ, Dooijes D, van den Berg MP. Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy. Circulation. 2010 May 25;121(20):2169-75.
2.  Morales A, Painter T, Li R, Siegfried JD, Li D, Norton N, Hershberger RE. Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. Circulation. 2010 May 25;121(20):2176-82.