Author(s): Van Spaendonck-Zwarts KY, Van Tintelen JP, Van Veldhuisen DJ, Van der Werf R, Jongbloed JD, et al.
Background:Anecdotal cases of familial clustering of peripartum cardiomyopathy (PPCM) and familial occurrences of PPCM and idiopathic dilated cardiomyopathy (DCM) together have been observed, suggesting that genetic factors play a role in the pathogenesis of PPCM. We hypothesized that some cases of PPCM are part of the spectrum of familial DCM, presenting in the peripartum period.
Methods and results:We reviewed our database of 90 DCM families, focusing specifically on the presence of PPCM patients. Then, in a reverse approach, we reviewed 10 PPCM patients seen in our clinic since the early 1990s and performed cardiological screening of the first-degree relatives of 3 PPCM patients who did not show a full recovery. Finally, we analyzed the genes known to be most commonly involved in DCM in the PPCM patients. We identified a substantial number (5 of 90, 6%) of DCM families with PPCM patients. Second, cardiological screening of first-degree relatives of 3 PPCM patients who did not show full recovery revealed undiagnosed DCM in all 3 families. Finally, genetic analyses revealed a mutation (c.149A>G, p.Gln50Arg) in the gene encoding cardiac troponin C (TNNC1) segregating with disease in a DCM family with a member with PPCM, supporting the genetic nature of disease in this case.
Conclusions:Our findings strongly suggest that a subset of PPCM is an initial manifestation of familial DCM. This may have important implications for cardiological screening in such families.
Referred From: https://www.ncbi.nlm.nih.gov/pubmed/20458010
Author(s): Sliwa K, Hilfiker-Kleiner D, Petrie MC, et al.
Author(s): Ansari AA, Fett JD, Carraway RE, Maybe AE, Onlamoon N, et al.
Author(s): BelloN, Hurtado-RendonIS, AranyZ
Author(s): Gentry MB, Dias JK, Luis A, Patel R, Thornton J, et al.
Author(s): Sliwa K, Skudicky D, Candy G, Bergemann A, Hopley M, et al.