HOLT-ORAM SYNDROME: RARE CASE SERIES

2021 ◽  
pp. 46-47
Author(s):  
Mahendar Reddy Muskula ◽  
Roshin P ◽  
Ajay J ◽  
Sanjeev Chetty
Keyword(s):  
Congenital Heart Defects ◽  
Upper Limb ◽  
Rare Case ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Case Series ◽  
Rare Disorder ◽  
Autosomal Dominant Disorder ◽  
Limb Malformations

The upper limb malformations in association with congenital heart defects occurring as autosomal dominant disorder are seen in Holt-Oram syndrome. It is a very rare disorder which can be detected with early prenatal ultrasound checkups. Here we are reporting two cases of holt-oram syndrome

scholarly journals A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

2011 ◽  
Vol 19 (7) ◽  
pp. 820-826 ◽  
Author(s):  
Judith B A van de Meerakker ◽  
Klaartje van Engelen ◽  
Inge B Mathijssen ◽  
Ronald H Lekanne dit Deprez ◽  
Jan Lam ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Autosomal Dominant Condition ◽  
Chromosome 9Q ◽  
Dominant Condition ◽  
Atrial Rhythm

Maternal Graves’ disease and fetal tetralogy of Fallot: a case series

2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Sushitha Surendran ◽  
Jason N. Johnson
Keyword(s):  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Current Knowledge ◽  
Heart Defects ◽  
Case Series ◽  
Thyroid Function Test ◽  
Thyroid Storm ◽  
Graves Disease ◽  
Normal Thyroid Function

Abstract Background Congenital heart defects have been reported with the use of antithyroid medication with ventricular septal defects (VSD) being the most common. As per the current practice guidelines maternal Graves’ disease (GD) is not an indication for fetal echocardiogram. Case presentation We described three neonates with tetralogy of Fallot (TOF) born to mothers with GD. Only one of the mothers was on antithyroid medication. Two of these neonates were diagnosed postnatally when they failed the pulse oximeter congenital cardiac screening and diagnosis was established by postnatal echocardiogram. Two of the mothers had radioactive iodine ablation and were on levothyroxine during pregnancy. The dose of levothyroxine was increased during pregnancy. There was no other complication during pregnancy. The third mother had hyperthyroidism and developed a thyroid storm during pregnancy requiring inpatient admission and treatment with propylthiouracil (PTU), metoprolol and methimazole. All babies had normal thyroid function test postnatally and eventually had successful repair of TOF defect. Conclusion We report the largest known case series of children with TOF born to mothers with GD. Apart from the isolated reports of fetal TOF in mothers with GD, there is no clear association between fetal TOF and maternal GD and antithyroid medication. Based on the review of the literature and our case series, there may be an increased incidence of congenital heart defects in maternal GD irrespective of antithyroid medication use. This case series may add to the current knowledge base and support routine fetal echocardiogram screening for all mothers with GD.

scholarly journals Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

2017 ◽  
Vol 49 (4) ◽  
pp. 613-617 ◽  
Author(s):  
Xia Wang ◽  
Wu-Lin Charng ◽  
Chun-An Chen ◽  
Jill A Rosenfeld ◽  
Aisha Al Shamsi ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Germline Mutations ◽  
Skeletal Malformations

scholarly journals Williams-Beuren Syndrome:A Rare Case from Western India

2016 ◽  
Vol 1 (1) ◽  
pp. 1
Author(s):  
Pankaj K. Gadhia ◽  
Salil N. Vaniawala
Keyword(s):  
Williams Syndrome ◽  
Congenital Heart Defects ◽  
Rare Case ◽  
Congenital Heart ◽  
Clinical Presentation ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Western India ◽  
Renal Anomalies ◽  
Live Births

Williams-Beuren Syndrome (WBS) also known as Williams Syndrome (WS) is a rare multisystem genetic disorder having incidence of 1 in 20,000 to 50,000 live births. WS caused by deletion of 26 - 28 contiguous genes including elastin (ELN) on chromosome 7q11.23. It is characterized by congenital heart defects, skeletal and renal anomalies. We report herein two rare cases of WS (One male and one female) from Western India varying clinical presentation. The confirmation was carried out by cytogenetic analysis and FISH test.

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