Table 1

Clinical Characteristics of Affected Family Members on the Basis of Severity of Clinical Presentation

FamilyPedigreeAge at Diagnosis*Current Age or Age at DeathD230NSexClinical FeaturesLVEF (%)LVIDD (cm)/(z-score)Comments
NYHA functional class >II
 AI-23 yrsNAFSCDNo symptoms before SCD. No autopsy performed.
 AIII-313 yrs13 yrsNAF
  • NYHA IV

  •  HF death

Died of multisystem organ failure during HF hospitalization.
 AIII-1013 months13 monthsNAMSCDNo symptoms before SCD. Autopsy notable for LV dilation.
 AIV-17 yrs26 yrs+M
  • NYHA IV

  •  Txp

98.6Diagnosed during family screening and became progressively symptomatic culminating in cardiac transplantation at 18 yrs.
 AIV-55 months28 yrs+FNYHA IV with improvement274.2 (13.2)Severe HF as an infant with improvement after medical therapy (LVEF now 50%).
 AIV-76 months6 monthsNAFSCDSCD at age 6 months without previous symptoms. Autopsy reported LV dilation.
 AIV-85 months21 yrs+FNYHA IV with improvement294.5 (15.2)Severe HF as an infant with improvement after medical therapy (LVEF now 58%).
 BI-156 yrs64 yrs+FVT255.9Presented with symptomatic VT and severe DCM, which improved with medical therapy (LVEF now 40%).
 BII-620 yrs24 yrs+M
  • NYHA IV

  •  Txp

<20Cardiac transplantation at age 20 yrs.
 BII-79 yrs12 yrsNAM
  • NYHA IV

  •  HF death

Presented with DCM at 9 yrs and died of HF at 12 yrs. Also had congenital cataracts and skeletal weakness.
 BIII-110 weeks8 yrs+FNYHA IV154.8 (15.6)Severe HF as an infant with improvement after medical therapy (LVEF now 46%).
NYHA functional class ≤II
 AII-471 yrs+FNYHA I494.6Asymptomatic. Mildly reduced LVEF identified after myocardial infarction at 71 yrs.
 AIII-154 yrs57 yrs+FNYHA I405.5Asymptomatic but LVEF decreased during follow-up from 52% to 40%.
 AIII-447 yrs53 yrs+MNYHA II506.4Minimal exercise intolerance developed at age 48 yrs.
 AIII-553 yrs+FNYHA I564.8Asymptomatic without evidence of LV enlargement or dysfunction.
 AIII-745 yrs50 yrs+MNYHA II505.7Minimal exercise intolerance developed at age 47 yrs.
 AIII-1240 yrs44 yrs+FNYHA II505.6Palpitations and mild LV enlargement/systolic dysfunction without exercise limitation.
 AIII-1342 yrs+FNYHA I554.7Asymptomatic without evidence of LV enlargement or dysfunction.
 AIV-223 yrs+FNYHA I594.8Asymptomatic without evidence of LV enlargement or dysfunction.
 AIV-416 yrs19 yrs+FNYHA I575.6Asymptomatic with mild LV enlargement.
 AIV-1122 yrs24 yrs+MNYHA I405.5Asymptomatic but LVEF decreased during follow-up from 50% to 40%.
 AIV-158 yrs11 yrs+FNYHA I514.2Asymptomatic with mildly reduced LVEF.
 BII-230 yrs38 yrs+MNYHA I455.1Asymptomatic with mildly reduced LVEF.
 BII-332 yrs36 yrs+MNYHA I356.4Asymptomatic but moderately reduced LVEF that decreased during follow-up from 42% to 35% with concomitant 5-mm increase in LVIDD.
 BII-431 yrs34 yrs+FNYHA I395.6Asymptomatic but LVEF decreased after pregnancy from 48% to 39%, normalizing with medical therapy (55%).

DCM = dilated cardiomyopathy; HF = heart failure; LV = left ventricular/ventricle; LVEF = left ventricular ejection fraction; LVIDD = left ventricular end-diastolic diameter z-score calculated for children age <16 yrs; NA = not available; NYHA = New York Heart Association functional class; SCD = sudden cardiac death; Txp = cardiac transplantation; VT = ventricular tachycardia.

  • * No age provided for subjects without evidence of DCM.

  • Age at death.