IllnessPrenatally abnormal heart, differential diagnosis

NGS +

[[Sanger]]

Congenital heart disease (CHD) is the most common form of birth defects. The incidence of CHD is about 7.4-10/1000 in live births, probably ten times higher in preterm births and certainly even higher at earlier stages of pregnancy. Cardiovascular development is a complex process involving many genetic and usually still unknown environmental factors. The monogenic CHDs are often observed in association with de novo gene mutations, or they follow all inheritance patterns. The DNA- diagnostic yield is not known. Therefore, a negative result does not represent any exclusion of the clinical diagnosis.

Reference: 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)