Common Syndromes Associated with CHD

Down Syndrome (DS) /Trisomy 21

CHD is quite common in babies with Down syndrome. About 40-50% of DS babies have heart defects. The commonest defects are
a. Atrioventricular Septal Defect/ Atrioventricular Canal
Defect (AVCD): 45%
b. Ventricular Septal Defect (VSD): 35%
c. Secundum Atrial Septal Defect: 8%
d. Patent ductus arteriosus: 7%
e. Tetralogy of Fallot: 4%
or any combination of multiple defects. So every baby with DS should be screened by Echocardiography to rule out or diagnose
CHD.
* Commonest cardiac defect found in NN Fatema‘s study is AVCD with or without additional ASD & VSD.

Congenital Rubella Syndrome (CRS)

CRS has been characterized by a triad of deafness, cataracts, and cardiovascular malformation. The incidence is Branch Pulmonary Artery Stenosis (78%), PDA (49%) and combined (13%). Some special facial features are already identified those are microcephaly and micrognathia. Newly identified features from the author‘s personal study and experience are as follows:

• Triangular face
• Prominent forehead
• A special whorl of hair on right side of forehead named “Rubella Whorl”.

*Commonest cardiac defect found in NN Fatema‘s study is PDA.

Noonan Syndrome (NS)

NS is the clinically homogenous but genetically heterogeneous condition. 85% of NS are associated with congenital cardiac defects. Among them 60% have PS, 25 % have ASD and 15 % have peripheral pulmonary artery stenosis.

*Commonest cardiac defect found in NN Fatema‘s study is combination of ASD and PS.

Turner Syndrome

Turner syndrome is a genetic disorder that affects about 1 in every 2,000 baby girls and only affects females. 23% of Turner syndrome is associated with cardiac defects among them bicuspid aortic valve (12.5%), CoA (6.9%), AS (3.2%) and PAPVD are common.

*Commonest cardiac defect found in NN Fatema‘s study is CoA

Marfan Syndrome

Marfan syndrome is a genetic disorder (autosomal dominant) that affects the body‘s connective tissue. Common
cardiac defects in Marfan syndrome are mitral valve prolapse (MVP), aortic valve prolapse (AVP), MR, AR, dilated
aorta, aortic aneurysm, aortic dissection etc.

* Commonest cardiac defect found in NN Fatema‘s study is MVP.

Williams Syndrome (WS)/ William Beuren Syndrome

Williams syndrome is a rare congenital multisystem disorder that affects many parts of the body especially cardiovascular system, connective tissue and central nervous system. 80 % of WS are associated with cardiovascular abnormalities. Supravalvar AS is found in 45-75%, PA in 37-75%, coronary artery abnormality in 5%, other systemic arterial stenosis (20%) of patients. Other structural cardiac anomalies are also found e.g VSD (4-9%), aortic valve abnormality (50%, bicuspid aortic valve (25-39%), MVP (9-27%), MR (15%).

* Commonest cardiac defect found in NN Fatema’s study is AS.

DiGeorge Syndrome/ 22q11.2 Deletion Syndrome

DiGeorge syndrome is a disorder caused by a defect in chromosome 22. It results in the poor development of several body systems. 75% of patients of DiGeorge syndrome are associated with cardiac defects. Most commonly are conotruncal cardiac defects e.g tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect. These conotruncal heart defects are frequently associated in this syndrome with additional cardiovascular anomalies of the aortic arch, pulmonary arteries, infundibular septum, and semilunar valves complicating cardiac anatomy.

* Commonest cardiac defect found in NN Fatema‘s study is TOF.

Pierre Robin Sequence (or Syndrome)

Pierre Robin sequence (or syndrome) is a condition in which an infant has a smaller than normal lower jaw, a tongue that falls back in the throat, and difficulty breathing. It is present at birth. CHD occurs in about 20 percent of patients with Pierre Robin syndrome. Ventricular septal defect, patent ductus arteriosus, and atrial septal defect are the most common congenital cardiac lesions in this syndrome.

* Commonest cardiac defect found in NN Fatema‘s study is VSD.

Round Face Syndrome

Special features noticed and named by the author which is observed in the patient of Double Outlet Right Ventricle (DORV) with Ventricular Septal Defect (VSD) and Pulmonary Stenosis (PS) i.e Extreme TOF. These are round facies with frontal prominence, round eyeball, and plumpy cheek.