Familial Dysautonomia (Riley-Day Syndrome)

Autosomal recessive transmission

Complete penetrance, marked variability in expression

Predominantly affects Ashkenazi Jewish population (incidence 1:10,000–20,000; carrier frequency 1:27-32)

Intraop: Primarily cardiovascular with hemodynamic variability

Postop: Primarily cyclic vomiting and pulmonary complications

Paroxysmal dysautonomic crisis triggered by physiologic or psychologic stress characterized by intractable vomiting, Htn, tachycardia, diaphoresis, erythematous macular rash

Resp status compromised by dysfunctional swallowing, leading to repeated aspiration pneumonias, and restrictive lung disease secondary to scoliosis

QTc prolongation and dysrhythmias, including bradycardia and asystole

Insensitivity to hypoxemia and hypercarbia, including apnea to mild hypoxia

Increased sensitivity to acetylcholine and catecholamines

HSAN type III

Differentiated from other HSAN types by profound autonomic dysfunction, Htn, orthostatic hypotension, and excessive or decreased sweating

Characterized by recurrent pulmonary infections, esophageal dysmotility, spinal abnormalities, and thermal dysregulation

High morbidity and mortality, with only 50% of newborns expected to reach age 40 y