Table 4.

Clinical Characteristics

SubjectAge at Diagnosis, Screening or Family History Information, ySexDCMECG/ArrhythmiaLVEDD, mm (Z score)LV Septum, Posterior Wall Thickness, mmEF or FS, %TTN Truncating Mutation PresentOther Mutation? (Genotype)Comment
Pedigree A: Arg13527X
IV-242FYesPVCs56, NANA20Yes
III-143FYes54 (2.44)NA, 1140Yes
III-369FNoAnterior MI54, NA11, 1042YesCAD diagnosis at age 69
III-551MYesPVCs, AF67 (4.04)NA35Yes
IV-327FNoYeshistory: paroxysmal atrial tachycardia and syncope
V-123FNoYesrecords documenting normal echocardiogram
Pedigree B: Ser19378X
III-329MYesPVCs56 (1.54)10, 1047YesTTN Ile2640Val
II-2NAFNoObligate carrierobligate carrier of TTN Ile2640Valhistory: died at 76 from cancer
II-366MNoNohistory: normal cardiac screening
II-570FObligate carrierobligate carrier of TTN Ile2640Val history: heart attack at age 50–60.
II-664MNo56 (1.42)9, 849.5YesTTN Ile2640ValBorderline systolic dysfunction
II-762FNo42 (−1.15)10, 1039 (FS)No
III-143MNoICDYesTTN Ile2640ValCAD diagnosis at age 43
III-247FYesPVCs, bigeminy64 (5.21)8, 6.821YesTTN Ile2640Val
III-436MYesICD, PVCs64 (3.43)9, 1024.5YesTTN Ile2640Val
Pedigree C: IVS 275+2 T>A
III-137FYesNSSTT68 (5.6)NA40YesRight deltoid muscle biopsy attributable to history of muscle weakness revealed congenital type I fiber predominance or chronic neurogenic atrophy with reinnervation.
I-2NAFObligate carrierHistory: died at 65 from cancer
II-252FYesNSSTT57 (3.29)11, 1122Yes
II-359MNoObligate carrierDeath certificate: VT, CAD
III-239MYesPVCs, LAE, NSSTT73 (4.69)10, 1032Yes
Pedigree D: IVS 275+2 T>A
II-439MYesAF, cardioversion66 (3.58)11, 1139YesTTN Gly29127Arg
II-349FYesPVCs, PACs, MI58 (3.56)10, 1025 (FS)YesTTN Gly29127Arg
II-546FYesNSSTT53 (2.26)8, 846YesTTN Gly29127Arg
III-132MNoRBBB, MI51 (-0.07)8, 841Yes
Pedigree E: Val28259SerfsX22
II-314Myes75 (6.30)5, 813 (FS)yesHeart transplantation
I-144MyesLAHB, MI, NSSTT62 (3.06)10, 925yes
I-242FnoNormal55 (2.32)8, 960noMYBPC3 Ala833Thr
II-120MnoNormal60 (2.28)10, 960yes
II-222MyesAF, ICD63.5 (3.01)10, 720yesMYBPC3 Ala833ThrHeart transplantation
Pedigree F: Lys28880AsnfsX8
III-116MyesAF, NSSTT21yesCardiomegaly (CXR); heart transplantation. Died post-transplant, age 21.
II-147MnoNormal52 (0.28)12, 983no
II-245FyesNSSTT51 (1.78)NA48yes
II-352MyesAF, NSCD, cardioversion50 (NA)8, 935yesDeath from noncardiovascular cause
II-552Mno1AVB50 (-0.22)9, 1077no
II-641FnoMI, NSSTT55 (2.97)6, 868no
III-220MyesICD, tachycardia60 (2.55)8, 638yesHeart transplantation
III-325FnoNormal51 (0.53)7, 747yes
Pedigree G: Arg31175X
II-152Myes56 (NA)NA10yes
II-2Mobligate carrierBy history: no known heart problems
II-449MyesLAE, tachycardia, NSSTT70 (5.04)12, -FS 17yes
III-135MyesLAE, tachycardia, NSSTT69 (5.21)10, 920yes
  • 1AVB indicates first-degree atrioventricular block; AF, atrial fibrillation; DCM, dilated cardiomyopathy; EF, ejection fraction; FS, fractional shortening; ICD, implantable cardiac defibrillator; LAE, left atrial enlargement; LAHB, left anterior hemiblock; LV, left ventricle; LVEDD, left ventricular end-diastolic dimension; MI, myocardial infarction pattern; NA, not available; NSCD, nonspecific conduction delay; NSR, normal sinus rhythm; NSSTT, nonspecific ST-T changes; PAC, premature atrial contraction; PVC, premature ventricular contraction; and RBBB, right bundle-branch block.