Klinische FragestellungKardiomyopathie, dilatative; Differentialdiagnose [EMQN 2023]

NGS +

[Sanger]

Linksventrikuläre oder biventrikuläre systolische Dysfunktion und Dilatation, die nicht durch abnorme Belastungszustände oder koronare Herzkrankheit erklärt werden

• Alias: Dilated cardiomyopathy (DCM)
• Allelic: Atrial fibrillation, familial, 10 (SCN5A)
• Allelic: Atrial septal defect 4 (TBX20)
• Allelic: Atrial septal defect 7, with/-out AV conduction defects (NKX2-5)
• Allelic: Brugada syndrome 1 (SCN5A)
• Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
• Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Allelic: Cardiomyopathy, familial restrictive, 1 (TNNI3)
• Allelic: Cardiomyopathy, familial restrictive, 3 (TNNT2)
• Allelic: Cardiomyopathy, hypertrophic [MONDO:0005045, panelapp] (ACTA1)
• Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
• Allelic: Cardiomyopathy, hypertrophic, 13 (TNNC1)
• Allelic: Cardiomyopathy, hypertrophic, 17 (JPH2)
• Allelic: Cardiomyopathy, hypertrophic, 18 (PLN)
• Allelic: Cardiomyopathy, hypertrophic, 2 (TNNT2)
• Allelic: Cardiomyopathy, hypertrophic, 23, with or without LVNC (ACTN2)
• Allelic: Cardiomyopathy, hypertrophic, 3 (TPM1)
• Allelic: Cardiomyopathy, hypertrophic, 4 (MYBPC3)
• Allelic: Cardiomyopathy, hypertrophic, 7 (TNNI3)
• Allelic: Centronuclear myopathy 5 (SPEG)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Conotruncal heart malformations, variable (NKX2-5)
• Allelic: Deafness, AD 10 (EYA4)
• Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Allelic: HCM, syndromic (LAMP2)
• Allelic: Heart block, nonprogressive (SCN5A)
• Allelic: Heart block, progressive, type IA (SCN5A)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Hypoplastic left heart syndrome 2 (NKX2-5)
• Allelic: Hypothyroidism, congenital nongoitrous, 5 (NKX2-5)
• Allelic: Laing distal myopathy (MYH7)
• Allelic: Left ventricular noncompaction 10 (MYBPC3)
• Allelic: Left ventricular noncompaction 5 (MYH7)
• Allelic: Left ventricular noncompaction 6 (TNNT2)
• Allelic: Left ventricular noncompaction 9 (TPM1)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Long QT syndrome 3 (SCN5A)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Muscular dystrophy, limb-girdle, autosomal recessive 10 (TTN)
• Allelic: Myopathy, actin, congenital, with cores (ACTA1)
• Allelic: Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
• Allelic: Myopathy, congenital with structured cores and Z-line abnormalities (ACTN2)
• Allelic: Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
• Allelic: Myopathy, distal, 4 (FLNC)
• Allelic: Myopathy, distal, 6, adult onset (ACTN2)
• Allelic: Myopathy, myofibrillar, 1 (DES)
• Allelic: Myopathy, myofibrillar, 5 (FLNC)
• Allelic: Myopathy, myofibrillar, 6 (BAG3)
• Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Allelic: Myopathy, myosin storage, AD (MYH7)
• Allelic: Myopathy, myosin storage, AR (MYH7)
• Allelic: Myopathy, scapulohumeroperoneal (ACTA1)
• Allelic: Nemaline myopathy 3, AD/AR (ACTA1)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Salih myopathy (TTN)
• Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
• Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Allelic: Sick sinus syndrome 1 (SCN5A)
• Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
• Allelic: Tetralogy of Fallot (NKX2-5)
• Allelic: Tibial muscular dystrophy, tardive (TTN)
• Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
• Allelic: Ventricular septal defect 3 (NKX2-5)
• Barth syndrome (TAZ)
• Becker muscular dystrophy (DMD)
• Cardiac conduction disease with/-out dilated cardiomyopathy (TNNI3K)
• Cardio-cutaneous syndrome [panelapp] (PPP1R13L)
• Cardiomyopathy, dilated [MONDO:0005021, panelapp] (ACTA1)
• Cardiomyopathy, dilated [MONDO:0005021] (SPEG)
• Cardiomyopathy, dilated, adult + teen [panelapp] (FKRP)
• Cardiomyopathy, dilated, 1A (LMNA)
• Cardiomyopathy, dilated, 1AA, with or without LVNC (ACTN2)
• Cardiomyopathy, dilated, 1BB (DSG2)
• Cardiomyopathy, dilated, 1C, with or without LVNC (LDB3)
• Cardiomyopathy, dilated, 1CC (NEXN)
• Cardiomyopathy, dilated, 1D (TNNT2)
• Cardiomyopathy, dilated, 1DD (RBM20)
• Cardiomyopathy, dilated, 1DD (SCN5A)
• Cardiomyopathy, dilated, 1EE (MYH6)
• Cardiomyopathy, dilated, 1FF (TNNI3)
• Cardiomyopathy, dilated, 1G (TTN)
• Cardiomyopathy, dilated, 1GG (SDHA)
• Cardiomyopathy, dilated, 1HH (BAG3)
• Cardiomyopathy, dilated, 1I (DES)
• Cardiomyopathy, dilated, 1II (CRYAB)
• Cardiomyopathy, dilated, 1J (EYA4)
• Cardiomyopathy, dilated, 1JJ (LAMA4)
• Cardiomyopathy, dilated, 1KK (MYPN)
• Cardiomyopathy, dilated, 1L (SGCD)
• Cardiomyopathy, dilated, 1LL (PRDM16)
• Cardiomyopathy, dilated, 1M (CSRP3)
• Cardiomyopathy, dilated, 1MM (MYBPC3)
• Cardiomyopathy, dilated, 1NN (RAF1)
• Cardiomyopathy, dilated, 1O (ABCC9)
• Cardiomyopathy, dilated, 1P (PLN)
• Cardiomyopathy, dilated, 1R (ACTC1)
• Cardiomyopathy, dilated, 1S (MYH7)
• Cardiomyopathy, dilated, 1U (PSEN1)
• Cardiomyopathy, dilated, 1V (PSEN2)
• Cardiomyopathy, dilated, 1W (VCL)
• Cardiomyopathy, dilated, 1X (FKTN)
• Cardiomyopathy, dilated, 1Y (TPM1)
• Cardiomyopathy, dilated, 1Z (TNNC1)
• Cardiomyopathy, dilated, 2A (TNNI3)
• Cardiomyopathy, dilated, 2B (GATAD1)
• Cardiomyopathy, dilated, 2C (PPCS)
• Cardiomyopathy, dilated, 2E (JPH2)
• Cardiomyopathy, dilated, 3B (DMD)
• Cardiomyopathy, dilated, AD [panelapp] (ANKRD1)
• Cardiomyopathy, dilated, adult + teen [panelapp] (NKX2-5)
• Cardiomyopathy, dilated, adult + teen [panelapp] (TCX20)
• Cardiomyopathy, familial restrictive 5 (FLNC)
• Congenital disorder of glycosylation, type Im (DOLK)
• DCM, syndromic [panelapp] (DOLK)
• Danon disease (LAMP2)
• Duchenne muscular dystrophy (DMD)
• Emery-Dreifuss muscular dystrophy 1, XL (EMD)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies), type A, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy, cong. with/-out impaired intell. devel., type B, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 5 (FKRP)
• Sudden cardiac death [panelapp] (PPP1R13L)