Table 1.

Characteristics of Four Menkes Disease Subjects with Congenital Heart Disease

Patient	Cardiac Defect	ATP7A Mutation	Family History of Menkes disease	Clinical Phenotype	Early Copper*	Cardiac Outcome	Neurological Outcome
1	Tetralogy of Fallot	S637L	Positive	Mild Menkes	No	Surgical repair at 1 yr of age	Moderate neurodevelopmental delaysa
2	Transposition of the Great Arteries	IVS15 AS, −1, g→a	Negative	Classical Menkes	No	Rashkind balloon atrial septostomy at birth; Surgical repair at 2 weeks of age	Seizures and severe neurodevelopmental delays; died at 5 mosof age
3	Pulmonic Stenosis	L625X	Positive	Classical Menkes	Yes	Balloon valvuloplasty as neonate; tricuspid insufficiency; died from R heart failure at age 2.5 yr	EEG abnormalities and moderate neurodevelopmental delaysb
4	Coarctation of Aorta	IVS21 DS,+1, g→a	Negative	Classical Menkes	No	Surgical repair at 1 mo of age	Epilepsy; global neurodevelopmental delays at age 10 mos

^*Copper histidine 250 μg sc b.i.d. beginning within 22 days of age (Kaler et al. 2008)

^aDescribed in Donsante et al., 2007

^bDescribed in Kaler et al., 2010