Filamin C (FLNC) truncating mutation in a fatal arrhythmogenic left ventricular cardiomyopathy (ALVC).
Leg Med (Tokyo)
; 69: 102438, 2024 Jul.
Article
en En
| MEDLINE
| ID: mdl-38547641
ABSTRACT
Forensic pathologists are frequently asked to investigate cases of sudden death (SD), and identifying the cause of death can be of particular importance, especially where it may be necessary to perform family screening among the relatives of the victim. A multidisciplinary approach inclusive of genetic analysis is therefore strongly recommended. According to forensic practice, arrhythmogenic cardiomyopathy (ACM) is a well-known cause of SD. However, cases of SD caused by a left ventricular pattern of ACM diagnosed at autopsy are rarely reported in the literature. We present the case of an apparently healthy, 37-year-old male found dead at his home. At autopsy, multiple foci of epicardial and mid-wall fibrous and fibro-adipose tissue were observed within the left ventricle and, to a lesser extent, within the interventricular septum. Toxicology was negative, whereas a filamin C truncating mutation was detected through genetic analysis. To our knowledge, this is the first instance of arrhythmogenic left ventricular cardiomyopathy being diagnosed at autopsy.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Filaminas
/
Mutación
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Leg Med (Tokyo)
Asunto de la revista:
JURISPRUDENCIA
Año:
2024
Tipo del documento:
Article