[MIM 212 112]

(dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Najjar syndrome, cardiogenital syndrome)

Very rare. Autosomal recessive transmission of a mutation of the LMNA gene (1q22).

Clinical presentation:

-        dilated cardiomyopathy with progressive onset

-        wide nasal base (sometimes beaked nose), blepharoptosis, sometimes retrognathism

-        moderate intellectual deficit,

-        mild skeletal abnormalities, narrow chest

-        hypergonadothrophic hypogonadism

-        metabolic disorders: diabetes mellitus, and thyroid hemiagenesis

-        sometimes signs of early aging.

Anesthetic implications:

echocardiography, risk of difficult intubation in case of retrognathism.

see Dilated or congestive cardiomyopathies

References :         

-        Filfeler DB, Karateke A, Kurt RK, Aldemir O, Nacar AB, Baloglu A.
Malouf Syndrome with hypergonadotropic hypogonadism and cardiomyopathy: two case report and literature review.
Case Reports in Obstetrics and Gynecology  2014, 275710,
http://dx.doi.org/10.1155/2014/275710

Updated: December 2022