Klinische FragestellungPränatal auffälliges Herz, Differentialdiagnose

NGS +

[[Sanger]]

Angeborene Herzerkrankungen (KHK) sind die häufigste Form von Geburtsfehlern. Die Inzidenz von KHK beträgt etwa 7,4-10/1000 bei Lebendgeborenen, bei Frühgeburten ist sie wahrscheinlich zehnmal höher und in früheren Schwangerschaftsstadien sicher noch höher. Die kardiovaskuläre Entwicklung ist ein komplexer Prozess, an dem viele genetische und meist noch unbekannte Umweltfaktoren beteiligt sind. Die monogenen KHKs werden oft im Zusammenhang mit de novo-Genmutationen beobachtet, bzw. sie folgen allen Vererbungsmustern. Die DNA-Diagnoseausbeute ist nicht bekannt. Daher stellt ein negatives Ergebnis keinerlei Ausschluss der klinischen Diagnose dar.

Referenz: https://pubmed.ncbi.nlm.nih.gov/31941532/

• Alias: Prenatally unusual heart ultrasound findings
• Allelic: 46XX sex reversal 5 (NR2F2)
• Allelic: 46XY sex reversal 9 (ZFPM2)
• Allelic: Alagille syndrome 1 (JAG1)
• Allelic: Alagille syndrome 2 (NOTCH2)
• Allelic: Blepharocheilodontic syndrome 2 (CTNND1)
• Allelic: Brachydactyly, type A2 (BMP2)
• Allelic: Cardiomyopathy, dilated, 1EE (MYH6)
• Allelic: Cardiomyopathy, dilated, 1R (ACTC1)
• Allelic: Cardiomyopathy, hypertrophic, 11 (ACTC1)
• Allelic: Cardiomyopathy, hypertrophic, 14 (MYH6)
• Allelic: Craniometaphyseal dysplasia, AR (GJA1)
• Allelic: Craniosynostosis 7, susceptibility to (SMAD6)
• Allelic: Cutis laxa, AD (ELN)
• Allelic: Diaphragmatic hernia 3 (ZFPM2)
• Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
• Allelic: Erythrokeratodermia variabilis et progressiva 3 (GJA1)
• Allelic: FG syndrome 2 (FLNA)
• Allelic: HFE hemochromatosis, modifier of (BMP2)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Hydroxykynureninuria (KYNU)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Hypothyroidism, congenital nongoitrous, 5 (NKX2-5)
• Allelic: Keratosis palmoplantaris striata II (DSP)
• Allelic: Laing distal myopathy (MYH7)
• Allelic: Left ventricular noncompaction 4 (ACTC1)
• Allelic: Leukemia, Philadelphia chromosome+, resistant to imatinib (ABL1)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Myopia 6 (SCO2)
• Allelic: Neurodev. disorder, intention tremor, pyramidal signs, dyspraxia, ocular anomalies (SMG9)
• Allelic: Oculodentodigital dysplasia AD + AR (GJA1)
• Allelic: Palmoplantar keratoderma with congenital alopecia (GJA1)
• Allelic: Radioulnar synostosis, nonsyndromic (SMAD6)
• Allelic: Sick sinus syndrome 3 (MYH6)
• Allelic: Skin fragility-woolly hair syndrome (DSP)
• Allelic: Syndactyly, type III (GJA1)
• Allelic: Testicular anomalies with/-out congenital heart disease (GATA4)
• Allelic: Wolff-Parkinson-White syndrome (PRKAG2)
• Adams-Oliver syndrome 5 (NOTCH1)
• Aortic valve disease 1 (NOTCH1)
• Aortic valve disease 2 (SMAD6)
• Arrhythmogenic right ventricular dysplasia 8 (DSP)
• Atrial septal defect 2 (GATA4)
• Atrial septal defect 3 (MYH6)
• Atrial septal defect 4 (TBX20)
• Atrial septal defect 5 (ACTC1)
• Atrial septal defect 6 (TLL1)
• Atrial septal defect 7, with/-out AV conduction defects (NKX2-5)
• Atrial septal defect 8 (CITED2)
• Atrial septal defect 9 (GATA6)
• Atrioventricular septal defect 3 (GJA1)
• Atrioventricular septal defect 4 (GATA4)
• Atrioventricular septal defect 5 (GATA6)
• Atrioventricular septal defect, partial, with heterotaxy syndrome (CRELD1)
• Atrioventricular septal defect, susceptibility to, 2 (CRELD1)
• CHARGE syndrome (CHD7)
• Cardiac valvular dysplasia 1 (PLD1)
• Cardiac valvular dysplasia, XL (FLNA)
• Cardiac, facial + digital anomalies with developmental delay (TRAF7)
• Cardiac-urogenital syndrome (MYRF)
• Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (SCO2)
• Cardiomyopathy, dilated, 1S (MYH7)
• Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
• Cardiomyopathy, hypertrophic 6 (PRKAG2)
• Cardiomyopathy, hypertrophic, 1 (MYH7)
• Cardiovascular anomalies [panelapp] (CTNND1)
• Ciliary dyskinesia, primary, 3, with or without situs inversus (DNAH5)
• Cleft palate, cardiac defects + mental retardation (MESI2)
• Congenital cardiac malformations [panelapp] (HYAL2)
• Congenital heart defects + ectodermal dysplasia (PRKD1)
• Congenital heart defects + skeletal malformations syndrome (ABL1)
• Congenital heart defects, multiple types, 4 (NR2F2)
• Congenital heart defects, multiple types, 5 (GATA5)
• Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
• Congenital heart defects, nonsyndromic, 2 (TAB2)
• Congenital myopathy 7A, myosin storage, AD (MYH7)
• Congenital myopathy 7B, myosin storage, AR (MYH7)
• Conotruncal anomaly face syndrome (TBX1)
• Conotruncal heart malformations (NKX2-6)
• Conotruncal heart malformations, variable (NKX2-5)
• Cor triatriatum [panelapp] (HYAL2)
• Deafness, congenital heart defects + posterior embryotoxon (JAG1)
• DiGeorge syndrome (TBX1)
• Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
• Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MYRF)
• Glycogen storage disease of heart, lethal congenital (PRKAG2)
• Hajdu-Cheney syndrome (NOTCH2)
• Heart and brain malformation syndrome (SMG9)
• Heart valve disease [MONDO:0002869] [panelapp] (ADAMTS19)
• Heart-hand syndrome, Slovenian type (LMNA)
• Heterotaxy (SHROOM3)
• Heterotaxy syndrome (LEFTY2)
• Heterotaxy, visceral, 1, XL (ZIC3)
• Heterotaxy, visceral, 2, AD (CFC1)
• Heterotaxy, visceral, 4, AD (ACVR2B)
• Heterotaxy, visceral, 5 (NODAL)
• Heterotaxy, visceral, 6, AR (CFAP53)
• Heterotaxy, visceral, 7, AR (MMP21)
• Holt-Oram syndrome (TBX5)
• Hypoplastic left heart syndrome 1 (GJA1)
• Hypoplastic left heart syndrome 2 (NKX2-5)
• Impaired intellectual developm. + distinctive facial features +/- cardiac defects (MED13L)
• Intellectual developmental disorder, cardiac defects + dysmorphic facies (TMEM94)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Left ventricular noncompaction 5 (MYH7)
• Malouf syndrome (LMNA)
• Mental retardation, AD 50 (NAA15)
• Mult. joint dislocat., short stature, craniofacial dysmorph., with/-out cong. heart def. (B3GAT3)
• Non-syndromic heart valve disease [panelapp] (ADAMTS19)
• Noonan syndrome 14 (SPRED2)
• Pancreatic agenesis + congenital heart defects (GATA6)
• Persistent truncus arteriosus (GATA6)
• Persistent truncus arteriosus (NKX2-6)
• Pulmonary hypoplasia, abn. diaphragma, an-/microphthalmia, cardiac defects [panelapp] (WNT7B)
• Right atrial isomerism [Ivemark] (GDF1)
• Short stature, facial dysmorphism + skeletal anomalies with/-out cardiac anomalies (BMP2)
• Sifrim-Hitz-Weiss syndrome (CHD4)
• Structural heart defects + renal anomalies syndrome (TMEM260)
• Supravalvar aortic stenosis (ELN)
• Tetralogy of Fallot (GATA4, GATA6, JAG1, NKX2-5, ROBO1, ZFPM2)
• VACTERL association, XL (ZIC3)
• Velocardiofacial syndrome (TBX1)
• Ventricular septal defect 1 (GATA4)
• Ventricular septal defect 2 (CITED2)
• Ventricular septal defect 3 (NKX2-5)
• Vertebral, cardiac, renal + limb defects syndrome 1 (HAAO)
• Vertebral, cardiac, renal + limb defects syndrome 2 (KYNU)
• Vertebral, cardiac, renal, and limb defects syndrome 3 (NADSYN1)
• Vertebral, cardiac, tracheoesophageal, renal, limb defects (WBP11)