Disease #05098 (RCM (cardiomyopathy, restrictive (RCM)))

Official abbreviation RCM
Name cardiomyopathy, restrictive (RCM)
OMIM ID -
Inheritance -
Individuals reported having this disease 30
Phenotype entries for this disease 30
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2015-10-31 13:09:49 +01:00 (CET)
Date last edited 2018-12-27 11:15:08 +01:00 (CET)


Individuals

30 entries on 1 page. Showing entries 1 - 30.
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00053142 - - - - - Canada - - - - - RCM - FLNC FLNC 1 1 Andreas Brodehl
00053143 - - - - - Canada - - - - - RCM - FLNC FLNC 1 1 Andreas Brodehl
00058416 - PubMed: Peled 2014 3-generation family, 6 affecteds; de novo variant from grandmother (germline mosaic case) - - - - - - - - RCM - TTN TTN 1 6 Claire Chauveau
00103211 - - - M no Germany - - - - - RCM - CRYAB CRYAB 1 1 Andreas Brodehl
00154542 - PubMed: Mogensen 2003 4-generation family, 12 affecteds, 1 asymptomatic carrier - - United Kingdom (Great Britain) - - - - - RCM - TNNI3 TNNI3 1 13 Peikuan Cong
00154543 - PubMed: Mogensen 2003 2-generation family, 1 affected - - - - 19y - - - RCM died of heart failure; marked bi-atrial dilatation, dilatation of pulmonary veins, normal-sized ventricles, normal wall thickness; ECG sinus rhythm with prominent P-waves, T-wave inversions, incomplete right bundle branch block; heart myocyte hypertrophy, abundant interstitial fibrosis, myofibril disarray TNNI3 TNNI3 1 1 Johan den Dunnen
00154544 - PubMed: Mogensen 2003 2-generation family, 1 affected - - - - - - - - RCM - TNNI3 TNNI3 1 1 Peikuan Cong
00154545 - PubMed: Mogensen 2003 2-generation family, 1 affected - - - - - - - - RCM - TNNI3 TNNI3 1 1 Peikuan Cong
00154546 - PubMed: Mogensen 2003 2-generation family, 1 affected - - - - - - - - RCM - TNNI3 TNNI3 1 1 Peikuan Cong
00154547 - PubMed: Mogensen 2003 2-generation family, 1 affected - - - - - - - - RCM - TNNI3 TNNI3 1 1 Peikuan Cong
00154548 - PubMed: Mogensen 2003 2-generation family, 1 affected - - - - - - - - RCM sudden death father TNNI3 TNNI3 1 1 Peikuan Cong
00154605 - PubMed: Kostareva 2009 - - - Russia - - - - - RCM - TNNI3 TNNI3 1 1 Johan den Dunnen
00154608 - PubMed: Kaski 2008 - - - - - - - - - RCM - TNNI3 TNNI3 1 1 Johan den Dunnen
00154609 - PubMed: Kaski 2008 - - - - - - - - - RCM - TNNI3 TNNI3 1 1 Johan den Dunnen
00154625 - PubMed: Yang 2010 - F - (Canada) - - - - - RCM ventricular septal defect TNNI3 TNNI3 1 1 Peikuan Cong
00154640 - PubMed: van den Wijngaard 2011 - F - Netherlands - - - - - RCM - TNNI3 TNNI3 2 1 Johan den Dunnen
00154641 - PubMed: van den Wijngaard 2011 - F - Netherlands - 2y - - - RCM severe TNNI3 TNNI3 1 1 Johan den Dunnen
00154651 - PubMed: van den Wijngaard 2011 - M - Netherlands - - - - - RCM - TNNI3 TNNI3 1 1 Johan den Dunnen
00154661 - PubMed: van den Wijngaard 2011 - M - Netherlands - - - - - RCM - TNNI3 TNNI3 1 1 Johan den Dunnen
00154674 - PubMed: Rai 2009 2-generation family, father/sister sudden cardiac death (congestive heart failure) F - India - - - - - RCM sudden caridac death TNNI3 TNNI3 1 1 Johan den Dunnen
00154812 - PubMed: Kaski 2008 2-generation family, 1 affected, asymptomatic carrier fahter/brother M - United Kingdom (Great Britain) - - - - - RCM - TNNT2 TNNT2 1 3 Peikuan Cong
00204288 II2 PubMed: Pantou 2019 2-generation family, 3 affected (2F, 1M), unaffected heterozygous parents and heterozygous sister F yes Greece - >52y - - - RCM Paroxysmal atrial fibrillation (HP:0004757), Mitral regurgitation (HP:0001653), Ischemic stroke (HP:0002140) CAV3, JPH2, LDB3, MYBPC3, MYH7, MYLK2, TNNC1, TNNI3, TNNT2, TPM1 TNNI3 1 3 Malena Pantou
00208029 FamG PubMed: Pruszczyk 2007 8 affecteds 5-generation family - - Poland - - - - - RCM - DES DES 1 8 Johan den Dunnen
00210217 12021217-FamPat1 PubMed: Caleshu 2011 2-generation family F - El Salvador - - - - - RCM carrier mother MYL2:G57E and MYL3:E143K MYL2 MYL2 1 1 Johan den Dunnen
00210269 12021217-FamPat1 PubMed: Caleshu 2011 2-generation family F - El Salvador - - - - - RCM carrier mother MYL2:G57E and MYL3:E143K MYL3 MYL3 2 1 Johan den Dunnen
00212765 - PubMed: Rai 2009 - - - - - - - - - RCM - MYH7 MYH7 1 1 Johan den Dunnen
00216896 22286171-PatCM1023 PubMed: Purevjav 2012 2 siblings, M - Japan Asian >22y - - - RCM mitral regurgitation (MR), tricuspid regurgitation (TR), atrial fibrillation (AF), 11 years, heart transplant MYPN MYPN 1 1 Julia Lopez
00216897 22286171-PatCM1024 PubMed: Purevjav 2012 2 siblings F - - - >19y - - - RCM mitral regurgitation (MR), 9 years, heart transplant MYPN MYPN 1 1 Julia Lopez
00225627 28174160-patient PubMed: Shah 2017 - M ? Canada - - - - furosemide, spironolactone, bisoprolol, enalapril and warfarin RCM right sided-dominant heart failure; right ventricular dilatation, mild (HP:0005133); increased adipose tissue (HP:0009126); cardiomyocyte hypertrophy, mild (HP:0031319); myocardial fibrosis, mild (HP:0001685); restrictive cardiomyopathy (HP:0001723); pulmonary arterial hypertension (HP:0002092); tricuspid regurgitation, moderate (HP:0005180); left atrial enlargement (HP:0031295); right atrial enlargement (HP:0030718); right bundle branch block, incomplete (HP:0011712); paroxysmal atrial fibrillation (HP:0004757); peripheral edema (HP:0012398); elevated jugular venous pressure (HP:0030848); hepatojugular reflux (HP:0030849) TNNI3 TNNI3 1 1 Jilani Jawaid
00225633 29741282-proband PubMed: Paller 2018 proband and unaffected carrier younger sister, mother had heart failure (80y) M ? United States - - - - - RCM atrial fibrillation (HP:0005110); atrioventricular block (HP:0001678); exertional dyspnea (HP:0002875); left atrial enlargement (HP:0031295); right atrial enlargement (HP:0030718); increased NT-proBNP level (HP:0031185); Cardiomyocyte hypertrophy (HP:0031319); interstitial cardiac fibrosis (HP:0031329); muscle weakness (HP:0001324); exercise-induced muscle fatigue (HP:0009020); myalgia (HP:0003326); areflexia (HP:0001284); nonocclusive coronary artery atherosclerosis (HP:0012436); increased endomysial connective tissue, esp. biceps brachii (HP:0100297); abnormality of skeletal muscle fiber size, esp. biceps brachii (HP:0012084); muscle fiber necrosis, esp. biceps brachii (HP:0003713); regenerating fibres, esp. biceps brachii LMNA LMNA 1 1 Jilani Jawaid
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