Kallmann Syndrome-Heart Disease Syndrome

Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.

Epidemiology

Less than 10 cases have been described so far.

Etiology

The aetiology is unknown but both autosomal recessive and dominant modes of inheritance, de novo mutations and a teratogenic origin have been suggested.