Cant ú syndrome: A new case and evolution of clinical conditions during first 2‐year follow‐up

We report on a 7-year-old girl with congenital generalized hypertrichosis, coarse facial appear ance and cardiac involvement, with a de novo heterozygous mutation (c.3461G >  A) in the ABCC9 gene. During the annual cardiac follow-up at the age of nine the echocardiogram showed mild left ventricular dilatation in consideration of which she started ramipril treatment. The progression of the clinical manifestations of Cantú syndrome highlights the relevance of an early diagnosis, including genetic analysis, and a multidisciplinary approach with long-term follow-up.

Source: Clinical Case Reports - March 2, 2023 Category: General Medicine Authors: Alessandra Mattiucci, Giampiero Girolomoni, Matteo Cassina, Thomas Zoller, Franco Antoniazzi, Donatella Schena Tags: CASE REPORT Source Type: research