The prevalence of congenital heart disease in children with Down syndrome in Kerala is the highest reported (63.4 %). Ventricular septal defect is the most common heart disease in the present study. The results highlight the changing attitudes of families towards the surgical correction of congenital heart disease in children with Down syndrome. Prevalence of hypothyroidism in Down syndrome in Kerala is 13.6 %.

The extracardiac features along with specific type of conotruncal defect and associated cardiovascular anomaly should alert the clinician for 22q11 deletion testing. However, if deletion analysis is not possible, specific extracardiac features (six dysmorphic facial features, thin long fingers and hypocalcemia) can help to identify an increased risk of 22q11 deletion in patients with conotruncal defect.

Case records of female patients with karyotype proven turner syndrome were analyzed. 11 patients had classic Turner karyotype (Group 1) and 13 patients had karyotype suggestive of one of the variants of Turner syndrome (Group 2). There was a median difference of 3 years between the age of presentation and the age of diagnosis in Group 2. Out of the thirteen patients in Group 2, 4 had no clinical stigmata of Turner Syndrome; the rest (n=9) had one or more of the typical clinical stigmata of Turner Syndrome. One patient with a complex mosaic karyotype also had an intracranial medulloblastoma. One patient in each group had coarctation of the aorta. 5 patients in Group 1 and 3 patients in Group 2 had primary hypothyroidism and received levothyroxine. The median Thyroid Stimulating Hormone levels were significantly higher among patients in group 1 than in group 2.

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A cutoff value of 8.32 fL for MPV can be an indicator of high risk of chromosome 22q11 deletion in individuals with syndromic conotruncal defects. Individuals with chromosome 22q11 deletion should be given irradiated blood especially during cardiac surgery. Further investigation should clarify the etiology behind variation in frequency of high MPV in different conotruncal lesions.