Late-onset familial amyloid polyneuropathy was associated with increased inter-ventricular septum thickness (P < 0.0001), with 39% of late-onset cases exhibiting severe left ventricular hypertrophy.
Observational (n=81)
Does age at onset affect morphological and functional features of the heart in patients with familial amyloidotic polyneuropathy?
Late onset Swedish FAP-cases more readily develop cardiomyopathy with increased IVS thickness and decreased heart muscle function compared to early onset cases.
p-value: p=< 0.0001
Heart complications are frequently encountered in hereditary transthyretin amyloidosis. Lately, reports of late onset familial amyloid polyneuropathy (FAP) cases presenting with a phenotype similar to that observed in senile systemic amyloidosis have emerged. The aim of the present study was to evaluate morphological and functional features of the heart by echocardiography including myocardial strain measurements, and to compare the outcome for early with those of late onset FAP cases. Eighty-one biopsy and genetically proven FAP, ATTR Val30Met patients were investigated with two-dimensional, M-mode echocardiography and myocardial strain with special attention to inter-ventricular septum (IVS) thickness. IVS thickness was closely related to the age at onset (P 15 mm). These patients were all late onset cases and represented 39% of all of the late onset cases. Strain measurements were also closely related to IVS thickness and age at onset thereby signifying a decreased function of the heart muscle in late onset cases. From the present investigation it appears that late onset Swedish FAP-cases more readily develop cardiomyopathy with an increased IVS thickness. Different pathways for amyloid formation in the heart may operate in early and late onset cases.
Suhr et al. (Sun,) conducted a observational in Familial amyloidotic polyneuropathy (FAP) (n=81). Late onset of disease vs. Early onset of disease was evaluated on Inter-ventricular septum (IVS) thickness (p=< 0.0001). Late-onset familial amyloid polyneuropathy was associated with increased inter-ventricular septum thickness (P < 0.0001), with 39% of late-onset cases exhibiting severe left ventricular hypertrophy.