CARDIAC INVOLVEMENT IN FACIO-SCAPULO-HUMERAL MUSCULAR-DYSTROPHY - A FAMILY STUDY USING TL-201 SINGLE-PHOTON-EMISSION-COMPUTED TOMOGRAPHY

Fifteen persons from two consecutive generations of one family affecte d with facio-scapulo-humeral muscular dystrophy (FSHD) were clinically and neurophysiologically examined. Diagnostic muscle biopsies were ob tained from two members. Linkage analysis showed that all four affecte d members of the family inherit the same 4q35 haplotype giving a lod s core of z = + 1.44. Six family members were examined by ECG at rest an d under stress, by two-dimensional echocardiography, and by cardiac Th allium-201 single-photon-emission computed tomography (Tl-201-SPECT) u nder dobutamine stress and at rest. Abnormal reduced Tl-201 uptake in cardiac SPECT was only found in the affected members of the family. Th erefore we suggest that cardiac Tl-201-SPECT abnormalities in FSHD ref lect cardiomyogenic changes in this type of muscular disease.