Diseases of the circulatory system
Other forms of heart disease
Autosomal recessive
18q12.1
ARVD is a rare myocardial disorder characterised by ventricular arrhythmia, syncope, dyspnea and palpitations. Some patients may also exhibit woolly textured hair or thick, scaly skin on their palms and soles. Left untreated, the condition can result in sudden cardiac death.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610476.1.1 | Lebanon | Female | Yes | No | Cardiac arrest ; Right bundle branch b... Cardiac arrest ; Right bundle branch block ; Right ventricular dilatation ; Bidirectional ventricular ectopy ; Left bundle branch block ; Myocardial fibrosis  | NM_024422.4:c.712_714delGAT | Homozygous | Autosomal, Recessive | Al-Sabeq et al, 2014 | Proband |