Spectrum of congenital heart disease in Down syndrome at Faisalabad institute of cardiology: A retrospective study.


  • Abdul Razzaq Mughal Faisalabad Institute of Cardiology, Faisalabad.
  • Zaigham Rasool Khalid Faisalabad Institute of Cardiology, Faisalabad.
  • Bismah Safdar Madina Teaching Hospital Faisalabad.
  • Safia Mughal




Congenital Heart Disease, Down Syndrome, Pulmonary Hypertension, Tetralogy of Fallot, Ventricular Septal Defect


Congenital heart disease (CHD) is the most common structural anomaly in Down syndrome children with a variable spectrum all over the world including Pakistan. Objectives: To determine the spectrum of congenital heart disease in Down syndrome at Faisalabad Institute of cardiology (FIC) Faisalabad. Study Design: Retrospective descriptive case series. Setting: Pediatric Cardiology Department of FIC, Faisalabad. Period: From January 2013 to June 2019. Material & Methods: All Consecutive patients of Down syndrome who underwent diagnostic Echocardiography at FIC were enrolled. Those having confirmed diagnosis of CHD were included in the study. Results: Out of 321Down syndrome children77.6% (n=249) had CHD and were enrolled for study. Male were 53.8% (n=134) while 46.2% were female (n=115). Majority of patients were below one year of age (57%, n=142). Acyanotic CHD was seen in 83.1 % of patients (n=207) while 16.9 % (n=42) had cyanotic CHD. Isolated cardiac defects was seen in 73.1% of patients (n=182) while 26.9 % had mixed cardiac lesions (n=67). Ventricular septal defect (VSD) was the most common (22.1%, n=55) solitary lesion followed by 14.5% cases of atrioventricular septal defect (AVSD), PDA (13.3%) and ASD (8.8%). Tetralogy of Fallot (TOF) was seen in 8.4%, AS in 1.2% while TGA, Tricuspid atresia, pulmonary valve stenosis, coarctation and Ebstein anomaly (0.8% each) were less common solitary defects. In mixed cardiac defects VSD with PDA was the most common (n=13, 5.22%) followed by VSD with ASD (n=12, 4.81%) and VSD with RVOTO (n=8, 3.21%). In AVSD cases, RVOTO was present in 2.81% (n=7), PDA with ASD was seen in 2% cases (n=5) while CcTGA, DORV, Pulmonary atresia were least common. Pulmonary Hypertension was present in 54.2% cases of left to right shunt lesions. Conclusion: Incidence of CHD in referred cases of Down syndrome is high (77.6%) at our setup. Acyanotic congenital heart defects are more common. VSD is the most common acyanotic CHD followed by AVSD while TOF is the most common cyanotic CHD.

Author Biographies

Abdul Razzaq Mughal, Faisalabad Institute of Cardiology, Faisalabad.

MBBS, FCPS (Paediatric Medicine), FCPS (Paediatric Cardiology)

Assistant Prof Paediatric Cardiology


Zaigham Rasool Khalid, Faisalabad Institute of Cardiology, Faisalabad.

MBBS, MCPS Surgery, FCPS Surgery, FCPS Cardiac Surgery

Assistant Professor Pediatric Cardiac Surgery,


Bismah Safdar, Madina Teaching Hospital Faisalabad.

MBBS. PGR for FCPS Pediatrics


Safia Mughal