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.

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Keywords Cardiomyopathy, Genetics, Pregnancy
Persistent URL dx.doi.org/10.1161/CIRCULATIONAHA.109.929646, hdl.handle.net/1765/27426
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Citation
van Spaendonck-Zwarts, K.Y, van Tintelen, J.P, van Veldhuisen, D.J, van der Werf, R, Jongbloed, J.D.H, Paulus, W.J, … van den Berg, M.P. (2010). Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy. Circulation (Baltimore), 121(20), 2169–2175. doi:10.1161/CIRCULATIONAHA.109.929646