Echocardiographie Assessment of the Course of Heart Disease in Familial Amyloidotic Polyneuropathy

Abstract

Twenty-eight patients with familial amyloidotic polyneuropathy, but without any symptoms consistent with cardiac dysfunction, were examined by echocardiography. The patients were subdivided into three groups according to the severity of the disease. Only 1 of the patients, with mild neuropathy, had an echocardiogram which was considered normal. The most prominent findings were increased thickness of the heart walls, highly refractile myocardial echoes, and decreased ventricular diastolic motility. The severity of the échocardiographie alterations increased with the severity of the disease. Fourteen patients were reexamined at least 3 years after the initial examination. No symptoms or signs of cardiac dysfunction had developed during the follow-up period. A certain, albeit modest, increase of frequency and extent of the échocardiographie findings occurred during follow-up. It is concluded that echocardiography is of diagnostic value in familial amyloidotic polyneuropathy. Serial examinations help to elucidate the course of the disease, but have limited clinical value.

Liver Transplantation Does Not Prevent the Development of Life-Threatening Arrhythmia in Familial Amyloidotic Polyneuropathy, Portuguese-Type (ATTR Val30Met) Patients

“…An increased prevalence and severity of cardiac arrhythmias and conduction disturbances are the main heart complications in FAP ATTR Val30Met, and the natural course of the disease often leads to the insertion of a pacemaker (18). Cardiac failure is very seldom observed in FAP ATTR Val30Met patients, and none of our patients receiving transplants have developed symptoms consistent with heart failure (19).…”

Electrocardiographic Findings in Familial Amyloidotic Polyneuropathy

“…Clinical and histopathological features of the Swedish variety of FAP have been reviewed previously [4,5]. It has recently been demonstrated that the amyloid deposits in Scandi navian, Portuguese and Japanese FAP contain a genetic variant of prealbumin with a substitution of methionine for valine in the prealbumin molecule, but several other genetic variants of prealbumin associated with systemic or localized amyloidosis have also been reported [6,7], Cardiac involvement in FAP is well documented in clinical studies and autopsy reports [8][9][10][11][12]. Our knowl edge of electrocardiographic changes in FAP is, however, still based on cross-sectional studies, where the authors have focused on atrioventricular and intraventricular conduction disturbances [13][14][15].…”