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Condition report · Cardiovascular

Inherited Congenital Heart Defects

Single-gene conditions that cause structural heart differences present at birth, such as holes between the heart chambers or narrowed vessels. Some also carry a risk of heart rhythm problems later in life.

A condition report looks for rare variants known to cause the conditions it covers.

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The 11 conditions we analyse

Holt-Oram Syndrome

Autosomal dominant

A condition caused by changes in TBX5 that combines differences of the hands and arms with heart defects, most often holes between the heart chambers and conduction problems.

What a diagnosis changes

Knowing about it supports heart imaging, ECG monitoring for conduction problems, and family counselling.

Genes analysed

Also known as

atrio digital syndrome; atriodigital dysplasia; atriodigital dysplasia type 1; Cardiac-limb syndrome; heart-hand syndrome; heart-hand syndrome type 1; HOS; HOS 1; ventriculo-radial syndrome

Includes 1 related subtype ↓
  • heart-hand syndrome type 3
MONDO:0007732OMIM 142900Orphanet 392MedGen 120524

Atrial Septal Defect

A hole between the upper chambers of the heart; inherited forms are caused by genes such as NKX2-5, GATA4, TBX20, MYH6 and ACTC1, and NKX2-5 forms also carry a risk of progressive heart block.

What a diagnosis changes

Knowing about it supports heart imaging and, for NKX2-5, regular ECG checks.

Genes analysed

Also known as

ASD; atrial septum defect; auricular septal defect; congenital atrial septal defect; interatrial septal defect; interauricular communication

Includes 15 related subtypes ↓
  • atrial septal defect 1
  • atrial septal defect 2
  • atrial septal defect 3
  • atrial septal defect 4
  • atrial septal defect 5
  • atrial septal defect 6
  • atrial septal defect 7
  • atrial septal defect 8
  • atrial septal defect 9
  • atrial septal defect, coronary sinus type
  • atrial septal defect, ostium primum type
  • atrial septal defect, ostium secundum type
  • atrial septal defect, sinus venosus type
  • Lutembacher syndrome
  • patent foramen ovale
MONDO:0006664Orphanet 1478MedGen 6753

GATA4-Related Congenital Heart Disease

Autosomal dominant

Congenital heart defects caused by changes in GATA4, sometimes with an underdeveloped pancreas or diabetes.

Genes analysed

Also known as

structural congenital heart disease, multiple types - GATA4

Includes 3 related subtypes ↓
  • atrial septal defect 2
  • atrioventricular septal defect 4
  • ventricular septal defect 1
MONDO:0100009

GATA6-Related Congenital Heart Disease

Autosomal dominant

Congenital heart defects caused by changes in GATA6, often with an underdeveloped pancreas or diabetes.

What a diagnosis changes

Knowing about it supports checks for diabetes and pancreatic function alongside heart care.

Genes analysed

Also known as

GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes

Includes 2 related subtypes ↓
  • atrial septal defect 9
  • atrioventricular septal defect 5
MONDO:0100540

Pancreatic Hypoplasia, Diabetes and Congenital Heart Disease Syndrome

Autosomal dominant

A condition, usually caused by changes in GATA6, that combines an underdeveloped pancreas, diabetes and congenital heart defects.

Genes analysed

Also known as

congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease; HDCA; heart defects, congenital, and other congenital anomalies; hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease; Yorifuji Okuno syndrome

MONDO:0010802OMIM 600001Orphanet 2255MedGen 444022

TAB2-Related Congenital Heart Disease

Autosomal dominant

Congenital heart disease caused by changes in TAB2, with variable valve disease, joint hypermobility, low muscle tone and hearing loss.

Genes analysed

Also known as

cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation; CHTD2; congenital heart malformation caused by mutation in TAB2; TAB2 congenital heart malformation; TAB2-related syndromic congenital heart disease

MONDO:0014000OMIM 614980Orphanet 664401MedGen 767193

MYH6-Related Congenital Heart Defects

Autosomal dominant

Heart defects caused by changes in MYH6, such as atrial septal defect, tetralogy of Fallot or hypoplastic left heart.

Genes analysed

MONDO:0800442

TFAP2B-Related Congenital Heart Disease (Char Syndrome)

Autosomal dominant

A condition caused by changes in TFAP2B that causes patent ductus arteriosus, sometimes with distinctive facial features and hand differences.

Genes analysed

Also known as

TFAP2B-related PDA and Char syndrome spectrum disorder

Includes 2 related subtypes ↓
  • Char syndrome
  • patent ductus arteriosus 2
MONDO:1010098

Supravalvular Aortic Stenosis

Autosomal dominant

A narrowing of the aorta just above the heart valve, caused by changes in ELN, which can also affect other arteries.

What a diagnosis changes

Knowing about it supports heart and blood vessel imaging and screening of relatives.

Genes analysed

Also known as

supravalvar aortic stenosis; supravalvular aortic stenosis (disease); SVAS

MONDO:0008504OMIM 185500Orphanet 3193MedGen 2001

NOTCH1-Related Heart Disease

Autosomal dominant

A range of heart conditions caused by changes in NOTCH1, including bicuspid aortic valve, left-sided heart defects and Adams-Oliver syndrome.

Genes analysed

Includes 2 related subtypes ↓
  • Adams-Oliver syndrome 5
  • aortic valve disease 1
MONDO:1060150

X-Linked Cardiac Valvular Dysplasia

X-linked recessive

A condition caused by changes in FLNA in which the heart valves are thickened and leaky, mainly affecting males.

Genes analysed

Also known as

congenital valvular dysplasia; CVD1; myxomatous valvular dystrophy, X-linked; valvular heart disease, congenital; XMVD

MONDO:0010753OMIM 314400Orphanet 1864Orphanet 555877MedGen 78083

Limitations

  • Supravalvular aortic stenosis is often part of Williams syndrome, which is caused by a deletion on chromosome 7 that needs copy-number analysis and may be missed.

Other cardiovascular conditions

All conditions →

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