Genetic alterations associated with heart disease

About genetic counseling

If you and your partner just found out that you are expecting a baby, you will be surprised to learn about the variety of prenatal tests available to you: blood, urine, monthly medical exams, dietary questionnaires, and family history tracking. Each test can help you assess your and your baby’s health and prevent potential health risks.

Contrary to your parents’ case, you have the option of genetic testing. These tests identify the likelihood of passing on certain genetic diseases or disorders to your child. If your medical history suggests that a genetic test would be of benefit, your doctor will likely refer you to a genetic specialist.

Some of the most common genetic disorders include:

Down’s Syndrome

Cystic fibrosis

Spina bifida, among others.

Similarly, many genetic disorders are associated with congenital heart defects, for which this table is attached.

Disease Percentage Types of heart disease
Autosomal dominant syndromes
Holt syndrome – Oram 80 – 90% CIA
Cornelia de Lange syndrome 30% CIV, CIA, PCA, E Ao, FE
Marfan syndrome 67 – 100% Aortic aneurysm, I AO, IM, IT
Noonan Syndrome 67% EP, CIA, CIV, PCA
Di George syndrome 50% Intra Ao arch, TF, truncus arteriosus
CHARGE Association 65 – 75% TF, DVSVD, CIA, CIV, PCA, Co Ao, AV channel
Cardiofacial syndrome 5 – 10% CIV
Tuberous sclerosis 30% Cardiac rhabdomyomas
Autosomal recessive syndromes
Carpenter syndrome 33% PCA, EP, CIV, TF, TGA
Mucopolysaccharidosis 50% Hypertrophic cardiomyopathy, IAo, IM, IT
Pompe disease 100% Hypertrophic cardiomyopathy, EF
Smith – Lemli – Opitz syndrome 100% CIA, PCA, CIA, TF
CIA: interatrial communication; CIV: ventricular septal defect; PCA: patent ductus arteriosus; E Ao: aortic stenosis; FE: endocardial fibroelastosis; I Ao: aortic regurgitation; MI: mitral regurgitation; IT: tricuspid regurgitation; PE: pulmonary stenosis; TF: tetralogy of Fallot; TGA: transposition of the great arteries.
Disease Percentage Types of heart disease
X-linked syndromes
Common Duchenne muscular dystrophy Dilated cardiomyopathy
Chromosomal diseases
Trisomy 21 (Down Syndrome) 50% AV Channel, CIV, PCA, CIA, TF
Trisomy 18 (Edwards syndrome) 90% CIV, CIA, PCA
Trisomy 13 (Patau syndrome) 80% PCA, CIV, CIA, Co Ao, E Ao, EP
Syndromes of unknown cause
Goldenhar syndrome 5 – 80% CIV, PCA, TF, Co Ao
VACTERL Association 10% CIV, CIA, TF
Williams syndrome 50 – 80% E supravalvular Ao, EP, CIV
AV: atrioventricular; CIV: ventricular septal defect; PCA: patent ductus arteriosus; CIA: interatrial communication; TF: tetralogy of Fallot; Co Ao: aortic coarctation; E Ao: aortic stenosis; PE: pulmonary stenosis; DVSVD: double outlet route of the right ventricle.

Therefore, a comprehensive cardiovascular evaluation is required to provide timely care in each case.