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Abstract

January - March 2023 | Vol. 16 | Issue 1 | 04-06
Early Onset Marfan Syndrome in a Neonate with a Novel Pathogenic Variant in the Non-Hotspot Region of the FBN1 Gene
Gayatri Nerakh1, Bhargavi Dhulipudi2, Sai Kiran Deshabhotla3
1 Department of Fetal Medicine and Medical Genetics, Fernandez Foundation, Hyderabad, Telangana, India 2 Department of Cardiology, Rainbow Children Heart Institute, Hyderabad, Telangana, India 3 Department of Neonatology, Fernandez Foundation, Hyderabad, Telangana, India
Address for Correspondence Email: maildrgayatri@gmail.com
 
Abstract
Early onset Marfan syndrome (eoMFS) is a rare form of classic Marfan syndrome. It is distinct from the classic Marfan syndrome in severity. The present case report is of a neonate with increased length, facial dysmorphism and arachnodactyly without any joint contractures. On transthoracic echocardiography (TTE) there was annulo-aortic ectasia. Exome sequencing revealed a de novo novel splice site pathogenic variant c.4336+2T>C in intron 35 of the FBN1 gene. The child was started on beta blocker therapy. On follow up, the child developed progressive increment in aortic root dimension with new onset mild aortic regurgitation and mitral regurgitation. Beta blocker was stopped and angiotensin receptor blocker (ARB) was started. The child responded well with ARB and kept on medical follow up. The current case highlights that the identification of more novel variants in non-hotspot regions of the FBN1 gene would help in understanding the genotype-phenotype correlations in eoMFS. This case also highlights the relevance of timely molecular diagnosis which helps in appropriate management and prognostication in such a scenario.
 
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