Case reports of a c.475G>T, p.E159* lamin A/C mutation with a family history of conduction disorder, dilated cardiomyopathy and sudden cardiac death.
Tetsuro YokokawaShohei IchimuraNaoko HijiokaTakashi KaneshiroAkiomi YoshihisaHiroyuki KuniiKazuhiko NakazatoTakafumi IshidaOsamu SuzukiSeiko OhnoTakeshi AibaHiroshi OhtaniYasuchika TakeishiPublished in: BMC cardiovascular disorders (2019)
In this family with cardiac laminopathy with a c.475G > T, p.E159* LMNA mutation, DCM, SCD, and malignant VT occurred. Clinical manifestation of various atrial and ventricular arrhythmias and heart failure with reduced ejection fraction occurred in an age-dependent manner in all family members who had the nonsense mutation. It appears highly likely that the E159* LMNA mutation is related to various cardiac problems in the family of the current report.