Klinische FragestellungKardiomyopathie, hypertrophe; Differentialdiagnose

NGS +

[Sanger]

Zustand, bei dem ein Teil des Herzens ohne offensichtliche Ursache verdickt ist, so dass das Herz weniger in der Lage ist, Blut effektiv zu pumpen; zu den Komplikationen gehören Herzinsuffizienz, ein unregelmäßiger Herzschlag, plötzlicher Herztod

• Alias: Hypertrophic cardiomyopathy (HCM)
• Allelic Cardiomyopathy, familial restrictive, 3 (TNNT2)
• Allelic: Amyloidosis, hereditary, transthyretin-related (TTR)
• Allelic: Atrial septal defect 5 (ACTC1)
• Allelic: Cardiomyopathy, dilated, 1AA, with/-out LVNC (ACTN2)
• Allelic: Cardiomyopathy, dilated, 1D (TNNT2)
• Allelic: Cardiomyopathy, dilated, 1FF (TNNI3)
• Allelic: Cardiomyopathy, dilated, 1M (CSRP3)
• Allelic: Cardiomyopathy, dilated, 1MM (MYBPC3)
• Allelic: Cardiomyopathy, dilated, 1P (PLN)
• Allelic: Cardiomyopathy, dilated, 1R (ACTC1)
• Allelic: Cardiomyopathy, dilated, 1S (MYH7)
• Allelic: Cardiomyopathy, dilated, 1Y (TPM1)
• Allelic: Cardiomyopathy, dilated, 1Z (TNNC1)
• Allelic: Cardiomyopathy, dilated, 2A (TNNI3)
• Allelic: Cardiomyopathy, familial restrictive, 1 (TNNI3)
• Allelic: Carpal tunnel syndrome, familial (TTR)
• Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
• Allelic: Fabry disease (GLA)
• Allelic: Glycogen storage disease of heart, lethal congenital (PRKAG2)
• Allelic: Laing distal myopathy (MYH7)
• Allelic: Left ventricular noncompaction 10 (MYBPC3)
• Allelic: Left ventricular noncompaction 4 (ACTC1)
• Allelic: Left ventricular noncompaction 5 (MYH7)
• Allelic: Left ventricular noncompaction 6 (TNNT2)
• Allelic: Left ventricular noncompaction 9 (TPM1)
• Allelic: Muscular dystrophy, limb-girdle, AR (TCAP)
• Allelic: Myopathy, congenital, structured cores + Z-line abnormalities (ACTN2)
• Allelic: Myopathy, distal, 6, adult onset (ACTN2)
• Allelic: Myopathy, myosin storage, AD (MYH7)
• Allelic: Myopathy, myosin storage, AR (MYH7)
• Allelic: Restrictive cardiomyopathy [MONDO:000520, panelapp] (TRIM63)
• Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
• Allelic: Wolff-Parkinson-White syndrome (PRKAG2)
• Cardiomyopathies + heart failure (ANKD1)
• Cardiomyopathy, familial hypertrophic (CAV3)
• Cardiomyopathy, familial hypertrophic 27 (ALPK3)
• Cardiomyopathy, familial hypertrophic, 26 (FLNC)
• Cardiomyopathy, hypertrophic, 1 (MYH7)
• Cardiomyopathy, hypertrophic, 1, digenic (MYLK2)
• Cardiomyopathy, hypertrophic, 10 (MYL2)
• Cardiomyopathy, hypertrophic, 11 (ACTC1)
• Cardiomyopathy, hypertrophic, 12 (CSRP3)
• Cardiomyopathy, hypertrophic, 13 (TNNC1)
• Cardiomyopathy, hypertrophic, 14 (MYH6)
• Cardiomyopathy, hypertrophic, 15 (VCL)
• Cardiomyopathy, hypertrophic, 16 (MYOZ2)
• Cardiomyopathy, hypertrophic, 17 (JPH2)
• Cardiomyopathy, hypertrophic, 18 (PLN)
• Cardiomyopathy, hypertrophic, 2 (TNNT2)
• Cardiomyopathy, hypertrophic, 20 (NEXN)
• Cardiomyopathy, hypertrophic, 22 (MYPN)
• Cardiomyopathy, hypertrophic, 23, with/-out LVNC (ACTN2)
• Cardiomyopathy, hypertrophic, 24 (LDB3)
• Cardiomyopathy, hypertrophic, 25 (TCAP)
• Cardiomyopathy, hypertrophic, 3 (TPM1)
• Cardiomyopathy, hypertrophic, 4 (MYBPC3)
• Cardiomyopathy, hypertrophic, 6 (PRKAG2)
• Cardiomyopathy, hypertrophic, 7 (TNNI3)
• Cardiomyopathy, hypertrophic, 8 (MYL3)
• Cardiomyopathy, hypertrophic, 9 (TTN)
• Danon disease (LAMP2)
• Fabry disease, cardiac variant (GLA)
• Hypertrophic cardiomyopathy [MONDO:0005045, panelapp] (TRIM63)