Table 1 Clinical data of probands with idiopathic restrictive cardiomyopathy
IDSexAge at diagnosis (years)SymptomsFHxHistologyECGEchocardiogram (mm)Haemodynamics (mm Hg)
IVS (z-score)LVPW (z-score)LVEDD (z-score)LA (z-score)FS (%)E/ALVEDP/PCWPMPAP
SarcomericH906F7NYHA III, CPNoDisarraySR, BAE, ST-T abnormalities, Q waves6 (+1.4)7 (+2.79)30 (−0.4)50 (+10.8)281.52851
H1685F6.4NYHA III, CPNoDisarray, dysplastic coronariesSR, BAE, ST-T abnormalities6 (+0.77)6 (+1.04)31 (−1.6)53 (+11.0)391.931
H1703M3.5NYHA IIINoFibrosis, myocyte vacuolationSR1824
H1710F8.2NYHA IIIDCMSR, BAE, IVCD, ST-T abnormalities5 (−0.71)4 (−2.16)44 (+2.9)42 (+6.6)292245
Non-sarcomericH1405F14.4NYHA II, syncopeLVNCSR, BAE, ST-T abnormalities6 (−1.6)8 (+0.77)52 (+1.7)53 (+7.32)252842
H1603F0.9NYHA IIINoSR, ST-T abnormalities3.6 (−0.66)3 (−1.48)25 (−0.1)31 (+5.14)263.52319
H1647M4.7NYHA II, presyncopeRCMFibrosis, myofibre inclusionsSR, BAE, ST-T abnormalities, Q waves, RBBB7 (+1.13)6 (−0.1)37 (−1.2)45 (+6.81)302.672121
H1649F4.7NYHA II, CPRCMFibrosis, myocyte vacuolationSR, BAE, ST-T abnormalities, RBBB6 (+1.42)4 (−1.1)32 (+0.3)37 (+6)311.812633
H1650F2.2NYHA II, syncopeNoSR, BAE, ST-T abnormalities7 (+2.36)6 (+1.44)35 (+0.7)41 (+7)402.573245
H1662F3.4NYHA IINoSR, BAE, ST-T abnormalities2523
H1683F5.5NYHA III, syncopeNoFibrosisSR, BAE, ST-T abnormalities, Q waves, IVCD5 (−0.38)5 (−0.3)43 (+2.98)57 (+12.4)342.01535
H1684M14.7NYHA II, presyncopeNoDisarrayAFL, BAE, ST-T abnormalities, IVCD6 (−1.83)6 (−2.46)48 (−0.3)55 (+8.23)351.722939
  • AFL, atrial flutter; BAE, biatrial enlargement; CP, chest pain; DCM, dilated cardiomyopathy; Dx, diagnosis; FHx, family history of cardiomyopathy; FS, fractional shortening; IVCD, intraventricular conduction delay; IVS, interventricular septum; LA, left atrial dimension; LVEDD, left ventricular end-diastolic dimension; LVEDP, left ventricular end-diastolic pressure; LVNC, left ventricular non-compaction; LVPW, left ventricular posterior wall; MPAP, mean pulmonary artery pressure; NYHA, New York Heart Association; PCWP, pulmonary capillary wedge pressure; PVRI, pulmonary vascular resistance index; RBBB, right bundle branch block; RCM, restrictive cardiomyopathy; SR, sinus rhythm; TPG, transpulmonary gradient; WU, Woods units.