Cataract and cardiomyopathy. Considered a
mitochondrial disease (complex I).
Unknown. All previously described families originated from the
southeast region of the Netherlands.
Likely caused by nicotinamide adenine dinucleotide
(reduced form) (NADH):ubiquinone oxidoreductase (complex 1) deficiency,
causing excessive production of hydroxyl radicals and lipid peroxidation.
Histologically, abnormality of mitochondria and storage of lipid and
glycogen are found in both skeletal and heart muscle.
Clinical features and measurement of plasmatic levels of lactate
obtained at rest and after exercise. A biopsy of the skeletal and cardiac muscle confirms
Patients usually present with congenital cataract
and followed by hypertrophic cardiomyopathy, usually a diffuse and
symmetrical type. Hypertrophic cardiomyopathy is progressive and by far the main
cause of premature death. A distinct feature is the development of marked
lactate acidemia on mild exercise. Other features include easy fatigue,
muscular hypotonia, and delayed motor development. Significant arrhythmia
may occur in later stages of disease.
An anesthesiology consultation is highly
recommended before elective surgical procedure. A complete cardiac medical history must be
obtained, including exercise tolerance and fatigability. Full cardiac
evaluation including ECG, chest radiograph, echocardiogram for left ventricular and
valvular function, Holter monitoring for arrhythmia, cardiac catheterization, and
endocardial biopsy when indicated. Check plasmatic lactate level before, during, and after
procedure if possible. Patients receiving cardiotonic medications must continue until the
day of surgery. Electrolyte level must be obtained, especially potassium (e.g., patients
No reported experience. Anesthetic
technique should be tailored to the condition of the cardiac function and to the
surgical procedure planned. Many of these patients are anesthetized for various
ophthalmological procedures without problems. Continuous ECG monitoring is
mandatory because of the potential for arrhythmia and coronary ischemia.
Premedication to avoid stress and anxiety is recommended. Ensure adequate
preload with fluid hydration and avoidance of tachycardia.
Ketamine should be avoided in
hypertrophic cardiomyopathy. Avoid positive inotropic and chronotropic drugs
if possible. Only a pure alpha-agonist should be used as a vasopressor.
Avoid excessive vasodilatation because it could result in reflex
tachycardia and consequently a decrease in filling time and cardiac output. Consider
halothane as volatile agent of choice if no arrhythmia occurs, because it causes less
vasodilatation and more cardiac depression than other volatile agents. Can use
suxamethonium because there is no proven association with malignant hyperthermia.
Sengers R, ter Haar B, Trijbels J, et al: Congenital cataract and
mitochondrial myopathy of skeletal and heart muscle associated with lactic
acidosis after exercise. J Pediatr
Smith WQ, Abu-Harb M: Undiagnosed cardiomyopathy in a neonate: Significance of low oxygen
saturation during anaesthesia, Br J Anaesth
Valsson J, Laxdal T, Jonsson A, et al: Congenital cardiomyopathy and
cataracts with lactic acidosis. Am J Cardiol