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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

From: A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3)

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
  1. a for pediatric patient III2 Right Atrial Area is documented instead of RAVi
  2. A: maximal velocity of the late atrial component of transmitral blood flow, AF: Atrial Fibrillation, AH: Arterial Hypertension, BSA: Body Surface Area calculated with Mosteller formula, DT: Deceleration Timeof early transmitral flow (time from maximal velocity to zero), E: maximal early transmitral blood flow velocity, ECG: ElectroCardioGram, HCM: Hypertrophic Cardiomyopathy, Het: heterozygous, Hom: homozygous, IVSd: Interventricular Septum Diameter, LAVi: Left Atrial Volume indexed to BSA, LV: Left Ventricle, LVEDD: Left Ventricular End Diastolic Diameter, LVEF: LV Ejection Fraction, LVESD: Left Ventricular End Systolic Diameter, LVH: Left Ventricular Hypertrophy, na: not applicable, NYHA: New York Heart Association class, PWd: Posterior Wall Diameter, RAVi: Right Atrial Volume indexed to BSA, RBBB: Right Bundle Branch Block, RCM: Restrictive Cardiomyopathy, SR: Sinus Rhythm
  3. Abnormal values are shown in bold letters