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ErkrankungPlötzlicher Herztod, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Plötzlicher Herztod mit 28 Leitlinien-kuratierten bzw. zusammen genommen 66 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
PP0655
Anzahl Gene
58 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
109,5 kb (Core-/Basis-Gene)
156,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ANK211874AD
CACNA1C6417AD
CACNB21821AD
CALM1450AD
CASQ21200AR
DES1413AD und/oder AR
DMD11058XLR
DMPK1920AD
DSC22706AD und/oder AR
DSG23357AD
DSP8616AD und/oder AR und/oder Dig
EMD765XLR
FKRP1488AR
FLNC8178AD
JUP2238AD und/oder AR und/oder Dig
KCNH23480AD und/oder Dig
KCNJ21284AD
KCNQ12031AD und/oder AR und/oder Dig und/oder Sus
LDB3852AD
LMNA1995AD und/oder AR und/oder Dig
MYBPC33825AD und/oder Dig
MYH75808AD und/oder AR und/oder Dig
PKP22646AD
RYR214904AD
SCN5A6051AD und/oder AR und/oder Dig
TAFAZZIN879XLR
TRDN2190AR
ACTC11134AD
ACTN22685AD
BAG31728AD
CALM2450AR
CALM3450AR
CDH22721AD
CSRP3585AD
DOLK1617AR
FHL1843XL
FHOD34320AD
FKTN1386AR
GLA1290XL und/oder Mult
HCN43612AD
JPH22091AD
KCNE1390AD und/oder AR und/oder Dig
LAMP21233XLD
MYL2501AD
MYL3588AD und/oder AR
NEXN2028AD und/oder Dig
NKX2-5975AD
PLN159AD
PRKAG21710AD
RBM203684AD und/oder Dig
TMEM431203AD
TNNC1486AD
TNNI3633AD und/oder AR
TNNI3K2508AD
TNNT2867AD
TPM1855AD
TTR444AD
VCL3405AD

Infos zur Erkrankung

Klinischer Kommentar

Plötzlicher Herztod definiert als unerwarteter Tod, bei zuvor gesund erscheinenden Personen innerhalb kürzester Zeit – in der Regel 1 h nach Beginn der Symptome; stellt eine der häufigsten Todesursachen in der westlichen Welt dar (D: ~100 000). 5-15 % der Fälle betreffen junge, bisher asymptomatische Menschen

AV Khera et al.: Rare Genetic Variants Associated With Sudden Cardiac Death in Adults, J Am Coll Cardiol. 2019 Nov 26;74(21):2623-2634. doi: 10.1016/j.jacc.2019.08.1060. Epub 2019 Nov 11.

 

Synonyme
  • Allelic: Atrial fibrillation, familial, 10 (SCN5A)
  • Allelic: Atrial fibrillation, familial, 3 (KCNQ1)
  • Allelic: Atrial fibrillation, familial, 9 (KCNJ2)
  • Allelic: Becker muscular dystrophy (DMD)
  • Allelic: Duchenne muscular dystrophy (DMD)
  • Allelic: Heart block, nonprogressive (SCN5A)
  • Allelic: Heart block, progressive, type IA (SCN5A)
  • Allelic: Sick sinus syndrome 1 (SCN5A)
  • Andersen syndrome (KCNJ2)
  • Arrhythmogenic right ventricular dysplasia 10 (DSG2)
  • Arrhythmogenic right ventricular dysplasia 11 (DSC2)
  • Arrhythmogenic right ventricular dysplasia 11, mild palmoplantar keratoderma + woolly hair (DSC2)
  • Arrhythmogenic right ventricular dysplasia 2 (RYR2)
  • Arrhythmogenic right ventricular dysplasia 8 (DSP)
  • Arrhythmogenic right ventricular dysplasia 9 (PKP2)
  • Barth syndrome (TAZ)
  • Brugada syndrome 1 (SCN5A)
  • Brugada syndrome 3 (CACNA1C)
  • Brugada syndrome 4 (CACNB2)
  • Cardiac arrhythmia, ankyrin-B-related (ANK2)
  • Cardiomyopathy, dilated, 1A (LMNA)
  • Cardiomyopathy, dilated, 1BB (DSG2)
  • Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
  • Cardiomyopathy, dilated, 1E (SCN5A)
  • Cardiomyopathy, dilated, 1G (TTN)
  • Cardiomyopathy, dilated, 1I (DES)
  • Cardiomyopathy, dilated, 1MM (MYBPC3)
  • Cardiomyopathy, dilated, 1S (MYH7)
  • Cardiomyopathy, dilated, 3B (DMD)
  • Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
  • Cardiomyopathy, familial hypertrophic, 26 (FLNC)
  • Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Cardiomyopathy, familial restrictive 5 (FLNC)
  • Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Cardiomyopathy, hypertrophic, 24 (LDB3)
  • Cardiomyopathy, hypertrophic, 4 (MYBPC3)
  • Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
  • Emery-Dreifuss muscular dystrophy 1, XL (EMD)
  • Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Hypertrophic cardiomyopathy [MONDO:0005045, panelapp] (TRIM63)
  • Jervell + Lange-Nielsen syndrome (KCNQ1)
  • Left ventricular noncompaction 10 (MYBPC3)
  • Left ventricular noncompaction 3 (LDB3)
  • Left ventricular noncompaction 5 (MYH7)
  • Long QT syndrome 1 (KCCNQ1)
  • Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
  • Long QT syndrome 14 (CALM1)
  • Long QT syndrome 2 (KCNH2)
  • Long QT syndrome 2, acquired, susceptibility to (KCNH2)
  • Long QT syndrome 3 (SCN5A)
  • Long QT syndrome 4 (ANK2)
  • Long QT syndrome 8 (CACNA1C)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
  • Myotonic dystrophy 1 (DPMK_CTG)
  • Naxos disease (JUP)
  • Restrictive cardiomyopathy [MONDO:0005201, panelapp] (TRIM63)
  • Short QT syndrome 1 (KCNH2)
  • Short QT syndrome 2 (KCNQ1)
  • Short QT syndrome 3 (KCNJ2)
  • Sudden infant death syndrome, susceptibility to (SCN5A)
  • Timothy syndrome (CACNA1C)
  • Ventricular arrythmias due to cardiac RYR2 calcium release deficiency syndrome (RYR2)
  • Ventricular fibrillation, familial, 1 (SCN5A)
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
  • Ventricular tachycardia, catecholaminergic polymorphic, 2 (CASQ2)
  • Ventricular tachycardia, catecholaminergic polymorphic, 4 (CALM1)
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with/-out muscle weakness (TRDN)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder Dig und/oder Sus
  • AD und/oder Dig
  • AR
  • XL
  • XL und/oder Mult
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
I46.1

Bioinformatik und klinische Interpretation

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