Often seen but rarely recognised: cardiac complications of lamin A/C mutations

JH Van Berlo, D Duboc, YM Pinto - European heart journal, 2004 - academic.oup.com
European heart journal, 2004academic.oup.com
Most cardiologists are quite alarmed when they learn that a patient carries a mutation in the
SCN5a gene responsible for “Brugada” syndrome. In contrast, when confronted with a family
carrying a lamin A/C mutation, they are often less aroused. In this issue of the Journal, a
founder mutation in the lamin A/C gene that causes cardiomyopathy with a particularly grave
prognosis is reported. 1 This finding underscores the fact that mutations in the lamin A/C
gene very often affect the heart, often with devastating consequences. However, in contrast …
Most cardiologists are quite alarmed when they learn that a patient carries a mutation in the SCN5a gene responsible for “Brugada” syndrome. In contrast, when confronted with a family carrying a lamin A/C mutation, they are often less aroused. In this issue of the Journal, a founder mutation in the lamin A/C gene that causes cardiomyopathy with a particularly grave prognosis is reported. 1 This finding underscores the fact that mutations in the lamin A/C gene very often affect the heart, often with devastating consequences. However, in contrast with SCN5a and other genes known to cause sudden death, the role of lamin mutations in heart failure as well as sudden death is only now beginning to be appreciated. The paper in this issue by Kärkkäinen et al. underscores the need to increase our awareness and understanding of cardiac pathologies caused by lamin mutations.
Oxford University Press