[Long-surviving patient with isolated absent pulmonary valve syndrome: a case report]

A 79-year-old woman was admitted for exertional dyspnea in September 2001. She had begun to experience unusual fatigue from the age of 40 years. Cardiac examination revealed a single S2, Levine grade II/VI presystolic murmur in the 5th left sternal border, and a right parasternal impulse. Echocardiography showed dilated right chambers and absence of pulmonary valve leaflets. Doppler echocardiography at the pulmonary annulus revealed a 'to and fro' pattern. Cardiac catheterization indicated the same diastolic pressures in the pulmonary artery and right ventricle. The diagnosis was absent pulmonary valve syndrome. Administration of a diuretic agent resulted in almost immediate improvement of symptoms. Absent pulmonary valve syndrome, generally associated with tetralogy of Fallot, often causes severe respiratory failure or right heart failure during infancy. A case of such long survival without associated cardiac anomalies is very rare.