Neonatal death of siblings with Uhl’s disease and KCNH2 mutation - A rare association

Abstract

Uhl’s disease is a rare disorder secondary to the uncontrolled destruction of right ventricular myocytes during the perinatal period. We present here the case of a 1-month-old child who died suddenly of Uhl’s disease, which was only diagnosed at autopsy and histological examination. From an anamnestic point of view, the child’s sister had also died at about 1 month of age from the same pathology. In both cases, genetic tests showed a heterozygous mutation in the KCNH2 gene. The case that we presented is particularly significant as very few familial cases of Uhl disease have been described in the literature, and genetic analyses have been conducted in very few cases. It is possible that the observed mutation played a role in the onset of the disease process. However, further scientific studies with larger case series are needed to confirm our results.

Keywords

• autopsy
• genetic analysis
• kcnh2 gene
• myocardial disease
• uhl’s disease