Congenital heart defects

Recruiting

• Conditions: Congenital malformation of circulatory system, unspecified,

• Registration Number: CTRI/2021/06/034215
• Lead Sponsor: Department of Biotechnology Ministry of Science and Technology Government of India

Brief Summary

heart defect (CHD) is the most prevalent birth defect leading to significant morbidity and mortality in children. Chromosomal abnormalities, copy number variations and monogenic defects constitute genomic alterations underlying CHD. Accurate evaluation, understanding of the disease phenotypes, and obtaining a diagnosis play a major role in prognostication and management of the condition in affected families. However, only a small proportion of patients receive a diagnosis despite extensive evaluation. In this study, we propose to perform detailed phenotyping, genetic workup and functional evaluation variants in families with abortuses (fetuses) and children with congenital heart defects by using chromosomal microarray and exome sequencing and whole genome sequencing in limited families. We aim to better understand the anatomy and embryology of CHD, the underlying genetic burden of the disease, ultimately aiding informed counseling and management.

Detailed Description

Not available

Study Timeline

• Study Start: 2021-06-15
• Last Update Posted: 2024-07-02

Recruitment & Eligibility

• Status: Open to Recruitment
• Sex: All
• Target Recruitment: 80

Inclusion Criteria

We plan to recruit 80 families affected with a congenital heart defect in aborted fetuses, neonates and children.

Exclusion Criteria

Not provided

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Molecular diagnosis and genetic counseling of participating familes with congenital heart disease	The study period is for a duration of three years. However we do not have specific time point as this is an observational study. An average time to generate a report for a patient will be 6 months.

Secondary Outcome Measures

Name	Time	Method
Adding novel variants and/or novel genes causing congenital heart defects to the literature	Three years

Trial Locations

Locations (1)

Kasturba Medical College and Hospital; 🇮🇳 Udupi, KARNATAKA, India

Kasturba Medical College and Hospital

🇮🇳Udupi, KARNATAKA, India

Shalini S Nayak

Principal investigator

9964043502

nayak.shalini@manipal.edu