Figure 1: Clinical Features of 2 Extended Hutterite Families With Arrhythmic Cardiomyopathy and Juvenile Cataract
2019-06-11T07:00:45Z (GMT) by
(A) Pedigrees of 2 multigenerational Hutterite families of L-leut (family 600) and S-leut (family 290) descendants. Filled black squares (male subjects) and circles (female subjects) refer to affected individuals with cataract and arrhythmic cardiomyopathy. Filled upper half symbols indicate individuals diagnosed with arrhythmic cardiomyopathy. Filled lower half symbols refer to individuals with juvenile cataract. Diagonal lines indicate deceased individuals. Double lines refer to known consanguinity. The genotype indicated by a “+” is the p.L13 (wild-type) allele and that indicated by a “-” is the mutant p.R13 allele. (B) Short-axis views of late gadolinium enhancement cardiac magnetic resonance imaging of family 290, II-20 (a), II-22 (b), III-20 (c), and III-21 (d) confirming nearly transmural delayed enhancement of the inferior/inferolateral walls as indicated by the arrows. (C) Rhythm strip of individual 600, II-18 recorded by the implantable cardioverter-defibrillator before delivering an appropriate shock (upper panel). Representative 12-lead electrocardiogram of the same individual showing deep T-wave inversions inferior and lateral corresponding to areas of fibrosis in the cardiac magnetic resonance image (lower panel). DNA = deoxyribonucleic acid; LEMD2 = LEM domain containing protein 2.