Fig 1.
Generations I to VII are indicated in the image sides.
Each individual of direct family linage is identified with a number. The index case is indicated by arrow (V-90); mutation carriers are represented with a +. Symptomatic patients are shown in black, asymptomatic patients are shown in gray, slashes indicate individuals who are deceased. T: transplanted; p-T: Pre-transplant stage.
Fig 2.
Representative clinical test in diagnosed patients.
A. Electrocardiogram of adult with DCM. B. Transthoracic echocardiogram of patient with DCM. C. Cardiac MRI showing ventricle alterations diagnostic of DCM.
Fig 3.
A. Chromatograms illustrating novel BAG3 genetic variant found, p.H243Tfr*64_BAG3. B. Representative western blot showing BAG3 and the load control α-ACTIN. C. Quantification of BAG3 protein levels in control and mutant carrier. Values are shown as BAG3 signal normalized to α-ACTIN levels to each replicate, and horizontal lines represent mean±SEM (standard error) for each sample. Statistical analysis was performed using two-tailed Mann-Whitney test.
Table 1.
Echocardiographic findings in patients carrying the genetic variant associated with DCM.
Gender: M, male; F, female. Symptoms: P, palpitations; T, transplanted; p-T, Pre-transplant stage; p-S, Presyncope; S, Syncope; SHF, sudden heart failure; (-) means no dyspnea. New York Heart Association Functional Classification is indicated by a rank between 1 and 4. LVEF indicates left ventricle ejection fraction; TDLVD, telediastolic left ventricle diameter; LAA1, left atrial volume; E/A ratio, relation between E-wave and A-wave in Doppler. Knock in myocardium is indicated by presence (1) or absence (0).
Fig 4.
Microscopic images of post-mortem tissue.
Pictures showed myofibrillar loss (A and C) and mild interstitial fibrosis (B and D). Nuclear pleomorphism and cellular atrophy is also observed (C). Hematoxylin-eosin labeling (A and C), and picro-Sirius Red labeling (B and D). Scale: A and B (200x) C and D (400x).