Genomics Precision Diagnostic > Prenatal > Congenital Hearts Defects Precision Panel

Congenital Heart Defects Precision Panel

Congenital Heart Defects (CHD) are the most common type of birth defect. They include abnormalities in heart structure that occur before birth. These defects occur in the foetus while it is developing in the uterus during pregnancy.

Overview

Congenital Heart Defects (CHD) are the most common type of birth defect. They include abnormalities in heart structure that occur before birth. These defects occur in the foetus while it is developing in the uterus during pregnancy. Chromosomal abnormalities can be a cause of CHD, although other causes include excessive alcohol consumption during pregnancy, the use of medications, maternal viral infections such as Rubella or measles during the first trimester, the presence of CHD in a parent or sibling and maternal illness (diabetes mellitus, phenylketonuria). The inheritance of these diseases follows an autosomal dominant pattern, although exceptions can be found. CHD encompasses a variety of defects that are commonly grouped based on the nature of the structural heart defect, resulting blood flow patterns, observed familial recurrence risks and shared susceptibility genes. According to the resulting blood pattern they can be classified as:
1. Acyanotic conditions (“pink babies”): Have left-to-right shunt in which oxygenated blood from the lungs is shunted back into the pulmonary circulation. Examples of these include septal defects (Ventricular Septal Defect, Atrial Septal Defect), Patent Ductus Arteriosus, Coarctation of the Aorta etc.
2. Cyanotic conditions (“blue babies”): Have right-to-left shunt in which deoxygenated blood is shunted into the systemic circulation. Examples of these include Transposition Of Great Vessels, Tetralogy Of Fallot, Truncus Arteriosus, Tricuspid Atresia, Total Anomalous Pulmonary Venous Return etc.
The Igenomix Congenital Heart Disease Precision Panel can be used as a diagnostic and screening tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes.

Indication

The Igenomix Comprehensive Cardiology Precision Panel is indicated in those cases where there is a clinical suspicion or ultrasound finding with or without the following manifestations:
- Blue-tinted nails or lips
- Fast or troubled breathing (shortness of breath)
- Tiredness when feeding
- Sleepiness, tiredness and/or fatigue
- Tachycardia
- Ankle, leg or eye swelling
- Loss of consciousness during exertion

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular diagnosis for an accurate clinical diagnosis.
Early initiation of treatment with a multidisciplinary team for appropriate surgical repair and interventional procedures to prevent further complications such as endocarditis, pulmonary hypertension, respiratory tract infections, arrhythmias, heart failure and sudden cardiac death.
Appropriate prenatal diagnosis and close communication between obstetric, genetic and paediatric providers for optimization of neonatal outcomes.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*A2ML1*	Noonan Syndrome	AD,MU,P	100%	23 of 23
*ABL1*	Congenital Heart Defects And Skeletal Malformations Syndrome	AD	99.93%	8 of 8
*ACTC1*	Atrial Septal Defect Ostium Secundum Type, Dilated Cardiomyopathy, Left Ventricular Noncompaction, Familial Hypertrophic Cardiomyopathy	AD	99.93%	72 of 74
*AFF4*	Chops Syndrome	AD	99.42%	6 of 6
*ARVCF*	22q11.2 Deletion Syndrome	–	99.95%	2 of 2
*B3GAT3*	Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, With Or Without Congenital Heart Defects	AR	99.86%	15 of 15
*BAZ1B*	Williams Syndrome	–	99.05%	5 of 5
*BCOR*	Oculofaciocardiodental Syndrome	X,XD,G	99.87%	NA of NA
*BMPR2*	Pulmonary Hypertension, Pulmonary Venoocclusive Disease	AD	99.99%	590 of 600
*BRAF*	Cardiofaciocutaneous Syndrome, Leopard Syndrome, Noonan Syndrome	AD	100%	80 of 80
*CBL*	Noonan Syndrome	AD	100%	46 of 47
*CDK13*	Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	AD	92.37%	31 of 32
*CHD7*	Charge Syndrome, Omenn Syndrome	AD	96.25%	823 of 896
*CHST3*	CHST3-Related Skeletal Dysplasia, Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, With Or Without Congenital Heart Defects	AR	99.97%	38 of 38
*COMT*	22q11.2 Deletion Syndrome	AD	99.98%	5 of 5
*CRELD1*	Atrioventricular Septal Defect	AD	100%	14 of 14
*CRKL*	Distal 22q11.2 Microdeletion Syndrome		99.93%	5 of 6
*DGCR2*	Velocardiofacial Syndrome	AD	99.94%	3 of 3
*DGCR6*	Velocardiofacial Syndrome	AD	94.78%	NA of NA
*DGCR8*	Velocardiofacial Syndrome	AD	99.98%	2 of 2
*DYNC2H1*	Jeune Syndrome	AR,MU,D	99.78%	214 of 221
*EHMT1*	Kleefstra Syndrome	AD	98.58%	58 of 75
*ELN*	Familial Thoracic Aortic Aneurysm And Aortic Dissection, Supravalvular Aortic Stenosis, Williams Syndrome, Williams-beuren Syndrome	AD	99.99%	95 of 96
*ESS2*	Velocardiofacial Syndrome	AD	99.91%	NA of NA
*FBN1*	Familial Thoracic Aortic Aneurysm And Aortic Dissection, Marfan Lipodystrophy Syndrome, Marfan Syndrome, Shprintzen-Goldberg Syndrome, Weill-Marchesani Syndrome	AD	100%	2836 of 2845
*FGFRL1*	Wolf-Hirschhorn Syndrome	AD	99.94%	1 of 1
*FLT4*	Congenital Heart Defects, Tetralogy Of Fallot	AD	100%	119 of 120
*GATA4*	8p23.1 Microdeletion Syndrome, Atrial Septal Defect Ostium Secundum Type, Atrioventricular Septal Defect, Testicular Anomalies With Or Without Congenital Heart Disease, Tetralogy Of Fallot, Ventricular Septal Defect	AD	94.69%	108 of 130
*GATA5*	Congenital Heart Defects, Familial Bicuspid Aortic Valve, Tetralogy Of Fallot	AD,AR	87.02%	26 of 32
*GATA6*	Atrial Septal Defect Ostium Secundum Type, Atrioventricular Septal Defect, Conotruncal Heart Malformations, Truncus Arteriosus Communis, Pancreatic Hypoplasia- Diabetes-Congenital Heart Disease Syndrome, Tetralogy of Fallot	AD,AR	84.19%	66 of 84
*GDF1*	Asplenia With Cardiovascular Anomalies, Congenital Heart Defects, Tetralogy Of Fallot	AD,AR	75.72%	11 of 14
*GJA5*	Familial Atrial Fibrillation, Chromosome 1q21.1 Deletion Syndrome, Tetralogy Of Fallot	AD	99.88%	13 of 13
*GP1BB*	22q11.2 Deletion Syndrome	AR	74.08%	26 of 50
*HAND1*	Congenital Heart Disease, Hypoplastic Left Heart Syndrome	–	99.89%	9 of 9
*HAND2*	Familial Isolated Dilated Cardiomyopathy	–	99.19%	5 of 6
*HDAC8*	Cornelia De Lange Syndrome, Wilson-Turner Syndrome	X,XD,G	99.78%	NA of NA
*HIRA*	22q11.2 Deletion Syndrome	–	99.99%	5 of 5
*JAG1*	Tetralogy Of Fallot	AD	99.98%	640 of 641
*JMJD1C*	22q11.2 Deletion Syndrome	–	99.09%	27 of 27
*KIFBP*	Goldberg-Shprintzen Syndrome	AR	99.27%	NA of NA
*KMT2A*	Cornelia De Lange Syndrome, Wiedemann-Steiner Syndrome	AD	98.14%	144 of 149
*KRAS*	Cardiofaciocutaneous Syndrome, Noonan Syndrome, Toriello-Lacassie-Droste Syndrome	AD	100%	38 of 38
*LZTR1*	Noonan Syndrome	AD	99.99%	136 of 136
*MAP2K1*	Cardiofaciocutaneous Syndrome, Noonan Syndrome	AD	100%	31 of 31
*MAP2K2*	Cardiofaciocutaneous Syndrome, Neurofibromatosis-noonan Syndrome	AD	100%	37 of 37
*MAPK1*	Distal 22q11.2 Microdeletion Syndrome	–	96.91%	1 of 1
*MRAS*	Noonan Syndrome	AD	100%	3 of 3
*MYRF*	Cardiac-Urogenital Syndrome	AD	99.83%	27 of 27
*NF1*	Neurofibromatosis-Noonan Syndrome	AD	97.97%	3082 of 3166
*NIPBL*	Cornelia De Lange Syndrome	AD	99.32%	409 of 426
*NKX2-5*	Atrial Septal Defect With Or Without Atrioventricular Conduction Defects, Atrial Septal Defect, Ostium Secundum Type, Conotruncal Heart Malformations, Truncus Arteriosus Communis, Familial Bicuspid Aortic Valve, Familial Progressive Cardiac Conduction Defect, Hypoplastic Left Heart Syndrome, Tetralogy Of Fallot, Ventricular Septal Defect	AD,AR	99.98%	112 of 116
*NKX2-6*	Conotruncal Heart Malformations, Truncus Arteriosus Communis, Tetralogy Of Fallot	AR	99.83%	8 of 8
*NOTCH1*	Adams-Oliver Syndrome, Aortic Valve Disease, Familial Bicuspid Aortic Valve	AD	99.83%	178 of 179
*NOTCH2*	Acroosteolysis Dominant Type	AD	99.88%	91 of 91
*NR2F2*	Congenital Heart Defects, Partial Atrioventricular Septal Defect	AD	97.37%	16 of 18
*NRAS*	Noonan Syndrome, Schimmelpenning– Feuerstein-Mims Syndrome	AD	100%	15 of 15
*NSD1*	5q35 Microduplication Syndrome, Sotos Syndrome, Weaver Syndrome	AD	99.80%	451 of 459
*NSD2*	Wolf-Hirschhorn Syndrome	AD	99.91%	NA of NA
*PPP1CB*	Noonan Syndrome-like Disorder With Loose Anagen Hair	AD	99.87%	12 of 12
*PRDM16*	1p36 Deletion Syndrome, Familial Isolated Dilated Cardiomyopathy, Left Ventricular Noncompaction, Dilated Cardiomyopathy	AD	98.81%	20 of 20
*PRDM6*	Patent Ductus Arteriosus	AD	99.63%	4 of 4
*PRKD1*	Congenital Heart Defects And Ectodermal Dysplasia	AD	97.39%	8 of 9
*PTPN11*	Leopard Syndrome, Noonan Syndrome	AD	100%	150 of 151
*RAD21*	Cornelia De Lange Syndrome, Mungan Syndrome	AD,AR	99.80%	16 of 17
*RAF1*	Dilated Cardiomyopathy, Leopard, Noonan Syndrome	AD	100%	64 of 64
*RASA2*	Noonan Syndrome	–	99.82%	5 of 5
*RBM10*	Tarp Syndrome	X,XR,G	100%	NA of NA
*RBPJ*	Adams-Oliver Syndrome	AD	99.98%	8 of 8
*RIT1*	Noonan Syndrome	AD	99.85%	27 of 27
*RRAS*	Noonan Syndrome	–	95.86%	3 of 3
*RRAS2*	Noonan Syndrome	AD	99.80%	6 of 6
*RREB1*	22q11.2 Deletion Syndrome		99.92%	8 of 8
*SEC24C*	22q11.2 Deletion Syndrome	–	99.98%	NA of NA
*SETD5*	Cornelia De Lange Syndrome	AD	99.77%	37 of 37
*SHOC2*	Noonan Syndrome-like Disorder With Loose Anagen Hair	AD	99.98%	8 of 8
*SKI*	1p36 Deletion Syndrome, Shprintzen-Goldberg Craniosynostosis Syndrome	AD	99.66%	39 of 39
*SMC1A*	Cornelia De Lange Syndrome, Wiedemann-Steiner Syndrome	X,XR,XD,G	100%	NA of NA
*SMC3*	Cornelia De Lange Syndrome	AD	100%	30 of 30
*SOS1*	Noonan Syndrome	AD	100%	103 of 104
*SOS2*	Noonan Syndrome	AD	99.48%	6 of 7
*STAG2*	Xq25 Microduplication Syndrome	X,XR,G	99.09%	NA of NA
*TAB2*	Congenital Heart Defects, Polyvalvular Heart Disease Syndrome	AD	99%	13 of 13
*TBX1*	22q11.2 Deletion Syndrome, Conotruncal Heart Malformations, Truncus Arteriosus Communis, DiGeorge Syndrome, Tetralogy Of Fallot, Velocardiofacial Syndrome	AD,AR	88.70%	35 of 42
*TBX20*	Atrial Septal Defect Ostium Secundum Type	AD	99.98%	33 of 34
*TBX5*	Holt-Oram Syndrome	AD	100%	143 of 152
*TFAP2B*	Char Syndrome, Patent Ductus Arteriosus	AD	100%	19 of 19
*TKT*	Short Stature, Developmental Delay, And Congenital Heart Defects	AR	99%	6 of 6
*TLL1*	Atrial Septal Defect Ostium Primum Type, Atrial Septal Defect Ostium Secundum Type	AD	99.96%	8 of 8
*TMEM94*	Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	AR	98%	NA of NA
*UFD1*	22q11.2 Deletion Syndrome	–	99.98%	NA of NA
*VPS33A*	Mucopolysaccharidosis-like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	AR	97.86%	1 of 1
*WDPCP*	Bardet-Biedl Syndrome, Congenital Heart Defects	AR	99.30%	8 of 8
*ZFPM2*	Tetralogy Of Fallot	AD	99.40%	44 of 46
*ZIC3*	X-linked Visceral Heterotaxy	X,XR,G	99.98%	NA of NA

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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Congenital Heart Defects Precision Panel

Congenital Heart Defects (CHD) are the most common type of birth defect. They include abnormalities in heart structure that occur before birth. These defects occur in the foetus while it is developing in the uterus during pregnancy.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

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