Impaired left ventricular diastolic filling in patients with familial amyloid polyneuropathy: a pulsed Doppler echocardiographic study.

Abstract

SUMMARY To assess left ventricular diastolic filling in patients with amyloid heart disease 12 patients with familial amyloid polyneuropathy and 15 normal subjects were studied by pulsed Doppler echocardiography. None of the patients had clinical evidence of overt heart disease or restrictive cardiomyopathy and only two of them showed ventricular wall thickening. The peak flow velocity of rapid diastolic filling and the acceleration rate of early diastolic inflow were significantly lower in patients with familial amyloid polyneuropathy than in controls. The pressure half time was significantly longer in patients than in controls. In addition, the peak flow velocity during atrial contraction and the ratio of atrial peak flow velocity to rapid diastolic peak flow velocity were significantly greater in patients than in controls. Although there were no significant correlations between measurements ofdiastolic filling and clinical findings in patients with familial amyloid polyneuropathy, the ratio of atrial peak flow velocity to rapid diastolic peak flow velocity was significantly related to left ventricular posterior wall thickness.These findings suggest that in patients with cardiac amyloidosis without restrictive cardiomyopathy, abnormal left ventricular diastolic filling, manifested by a reduction in the rate and volume of rapid diastolic filling with enhanced atrial contraction, can be seen even in the early stage of the disease.Familial amyloid polyneuropathy causes progressive systemic amyloidosis with polyneuropathy that can affect the heart. Amyloid deposits have been reported in the myocardium when there is no clinically identifiable heart disease or ventricular wall thickening.' In earlier serial echocardiographic studies'2 we found that the development of extensive amyloid deposition caused not only progressive increases in ventricular wall thickness but also altered left ventricular systolic and diastolic function. Left ventricular diastolic filling in several cardiac diseases has been non-invasively assessed by pulsed Doppler echocardiography. But so far the profile of left Requests for reprints to Dr Minoru Hongo,

Electrocardiographic Findings in Familial Amyloidotic Polyneuropathy

“…Amyloid is an extracellular deposit which causes tissue ischemia, damage and death by pre venting normal cellular metabolism why it seems reason able that repolarization abnormalities should occur. Re cent échocardiographie findings of ventricular diastolic dysfunction [10,11] and also our previous histopathological studies [8,27] have also confirmed that the myocar dium proper is involved in amyloid heart disease. A pro longed Q-T interval in FAP has previously not been reported.…”

Echocardiographic Assessment of the Cardiac Amyloidoses

“…30 No patients had clinical evidence of overt heart disease or restrictive cardiomyopathy, and only 2 showed LV wall thickening. The peak flow velocity and acceleration rate of early diastolic filling were lower and the ratio of atrial peak flow velocity/early diastolic peak flow velocity was significantly greater in FAP patients compared with the controls, with the ratio significantly correlating with LV posterior wall thickness.…”

Familial amyloidosis in one Chinese family: clinical, immunological, and molecular genetic analysis

“…The echocardiograms in our three patients clearly demonstrated thickened mitral and aortic valves and ' granular sparkling ' in the interventricular septum, typical findings in all types of cardiac amyloidosis. Patients with familial TTR amyloidosis often have impaired left ventricular diastolic filling [7]. Other manifestations include congestive heart failure and a variety of arrthymias [1,2,8].…”