Table 1 Clinical, Electrocardiographic, and Doppler Echocardiographic Data of the proband and her family members. Approximate normal ranges of echocardiographic data according to published sources are shown in brackets
Member of the family | TNNI3 genetic status | Current age/sex | Age at symptom onset-examination | Height (m)/ BSA (m2) | ECG, Arrhythmia | LVEDD (mm) | IVSd (mm) | PWd (mm) | LVESD (mm) | LVEF % | LAVi (ml/m2) | RAVi (ml/m2) | E (cm/s) | A (cm/s) | E/A | DT (ms) | Accompanying disease/habits (therapy) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
II1 | Hom | 49 M | 42 | 1.75/2.01 | SR, incomplete RBBB, LV strain | 47 [42–58] | 12 [6–10] | 10 [6–10] | 30 [25–40] | 60 [52–72] | 53.7 [16–34] | 38.8 [11–39] | 54 [40–104] | 71 [32–92] | 0.77 [0.60–1.84] | 190 [81–293] | HCM, NYHA II, presyncope, Dyslipidemia, smoker (acetylsalicylic acid, rosuvastatin) |
Proband II2 | Hom | 52F | 41 | 1.60/1.49 | AF, LVH, LV strain | 45 [38–52] | 7 [6–9] | 7 [6–9] | 31 [22–35] | 50 [54–74] | 127.5 [16–34] | 100.7 [9–33] | 60 [43–111] | na (AF) | na (AF) | 110 [109–268] | RCM, NYHA III-IV (acenocumarol, metoprolol tartate, furosemide, amiloride) |
II3 | Hom | 52F | 45 | 1.60/1.59 | SR, incomplete RBBB, LV strain | 44 [38–52] | 8 [6–9] | 8 [6–9] | 30 [22–35] | 55 [54–74] | 94.3 [16–34] | 47.2 [9–33] | 65 [43–111] | 24 [35–91] | 2.71 [0.4–2.12] | 104 [109–268] | RCM, NYHA II (furosemide) |
II4 | Het | 55F | 1.65/1.79 | SR | 42 [38–52] | 7 [6–9] | 7 [6–9] | 26 [22–35] | 55 [54–74] | 33.5 [16–34] | 27.9 [9–33] | 63 [43–111] | 75 [35–91] | 0.87 [0.4–2.12] | 300 [109–268] | Asymptomatic | |
I1 | Het | 75 M | 1.70/1.94 | SR | 46 [42–58] | 10 [6–10] | 10 [6–10] | 27 [25–40] | 65 [52–72] | 23.2 [16–34] | 23.7 [11–39] | 60 [37–97] | 75 [41–105] | 0.80 [0.42–1.50] | 280 [78–357] | Asymptomatic Dyslipidemia (rosuvastatin) | |
I2 | Het | 72F | 1.70/2.00 | SR | 41 [38–52] | 10 [6–9] | 9 [6–9] | 26 [22–35] | 55 [54–74] | 35 [16–34] | 27.9 [9–33] | 50 [38–106] | 75 [44–108] | 0.67 [0.37–1.61] | 310 [90–313] | Asymptomatic Increased apical trabeculations, AH, Dyslipidemia (olmesartan, rosuvastatin, acetylsalicylic acid) | |
III2 | Het | 13F | 1.61/1.45 | SR | 48 [38–52] | 7 [6–10] | 6 [6–10] | 27 [22–35] | 60 [54–74] | 33.0 [18–34] | 14.9a [9.5–19.3] | 100 [50–118] | 70 [27–75] | 1.43 [0.68–2.76] | 190 [97–257] | Asymptomatic | |
III3 | Het | 21 M | 1.78/1.97 | SR | 50 [42–58] | 8 [6–10] | 9 [6–10] | 34 [25–40] | 55 [52–72] | 25.4 [16–34] | 22.3 [11–39] | 80 [51–107] | 45 [24–76] | 1.78 [0.65–2.73] | 195 [87–273] | Asymptomatic |