Sengers Syndrome

Cataract and cardiomyopathy. Considered a mitochondrial disease (complex I).

Cataract-Cardiomyopathy Syndrome.

Unknown. All previously described families originated from the southeast region of the Netherlands.

Autosomal recessive.

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 the diagnosis.

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 on digoxin).

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.