An extremely rare and frequently lethal disease in
infants characterized by cardiac and urogenital anomalies.
Genital Anomaly-Cardiomyopathy Syndrome; Najjar Syndrome.
Fewer than 10 patients have been
described. Autosomal recessive inheritance has been suggested (although to
date this disorder has been described only in boys). Parental consanguinity
seems to be a significant risk factor.
Urogenital features, which include
hypospadias/epispadias, micropenis, testicular atrophy, and a bifid
hypoplastic scrotum, are most likely caused by a primary testicular failure.
Cardiomyopathy is frequent (myofiber disarray), and cardiac dysfunction may
be rapidly progressive and severe in early infancy. Death usually results from cardiac
failure. Additional features include anodontia,
decreased sweating, decreased body hair, and mental retardation.
Anesthesia care has not been reported in
this syndrome. Cardiac function should be assessed by echocardiography. A
12-lead electrocardiogram may show cardiac conduction defects. Serum
electrolytes should be checked and disturbances corrected. Cardiac
dysfunction should set a low threshold for invasive monitoring, and
inotropic support may be required. Arrhythmias may occur. Decreased sweating
may lead to abnormal thermoregulation. Mental retardation may result in
increased anxiety and limited cooperation. Sedative and anxiolytic
premedication and the presence of the primary caregiver during induction of anesthesia may
Najjar SS, Der Kaloustian VM, Ardati KO: Genital anomaly and
cardiomyopathy: A new syndrome. Clin Genet
Najjar SS, Der Kaloustian VM, Nassif SI: Genital anomaly, mental
retardation, and cardiomyopathy: A new syndrome? J Pediatr
Thomas IT, Jewett T, Lantz P, et al: Najjar syndrome revisited. Am J Med Genet