In Case 1 (II-4), implantation of a cardiovascular defibrillator (ICD) was recommended because of polymorphic VT, LMNA mutation, and family history of SCD. However, she refused the implantation and was discharged. Case 2 A man (nephew of the patient in Case 1, III-1) in his forties dev...
Congenital heart defectsArrhythmiaNKX2-5To date, several disease-related mutations in NKX2-5, a cardiac-specific homeobox gene, have been documented in patients with a variety of congenital heart diseases (CHDs). The most commonly reported phenotypes are secundum atrial septal defect (ASD) and ...