A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Pregnancy and childbirth in carriers of the lamin A/C-gene mutation
Tekijät: Palojoki E, Kaartinen M, Kaaja R, Reissell E, Kärkkäinen S, Kuusisto J, Heliö T
Julkaisuvuosi: 2010
Journal: European Journal of Heart Failure
Tietokannassa oleva lehden nimi: European journal of heart failure
Lehden akronyymi: Eur J Heart Fail
Vuosikerta: 12
Numero: 6
Aloitussivu: 630
Lopetussivu: 3
Sivujen määrä: 4
ISSN: 1388-9842
eISSN: 1879-0844
DOI: https://doi.org/10.1093/eurjhf/hfq059
Tiivistelmä
This retrospective case report describes 11 pregnancies in five women. All of the women were carriers of the lamin A/C gene mutation known to cause dilated cardiomyopathy, often together with atrioventricular conduction disturbances. The penetrance of these mutations is age-dependent but almost complete. We found no major adverse effects or worsening in the cardiac condition during or after the pregnancy in these patients. All babies were healthy except for one with a small ventricular septal defect, one diagnosed with tracheobronchomalasia, and one with a patent ductus arteriosus. None of these defects have been associated with lamin A/C mutations.
This retrospective case report describes 11 pregnancies in five women. All of the women were carriers of the lamin A/C gene mutation known to cause dilated cardiomyopathy, often together with atrioventricular conduction disturbances. The penetrance of these mutations is age-dependent but almost complete. We found no major adverse effects or worsening in the cardiac condition during or after the pregnancy in these patients. All babies were healthy except for one with a small ventricular septal defect, one diagnosed with tracheobronchomalasia, and one with a patent ductus arteriosus. None of these defects have been associated with lamin A/C mutations.
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