Holt–Oram Syndrome Associated with Complex Congenital Heart Disease: A Rare Case Presentation and Literature Review

Ramush Bejiqi; Ragip Retkoceri; Arlinda Maloku; Aferdita Mustafa; Rinor Bejiqi

doi:10.3889/oamjms.2020.4287

Authors

Ramush Bejiqi Texas Health Science Center, University of Texas, San Antonio, Texas, USA; University of Gjakova “Fehmi Agani,” Medical School, Gjakova, Kosovo; Department of Cardiology, Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo
Ragip Retkoceri Department of Cardiology, Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo
Arlinda Maloku Department of Cardiology, Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo
Aferdita Mustafa Department of Cardiology, Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo
Rinor Bejiqi Polyclinic “Echoscan”, Prishtina, 10000 Kosovo

DOI:

https://doi.org/10.3889/oamjms.2020.4287

Keywords:

Atriodigital syndrome, TBX5 gene, Congenital heart disease, Hypoplastic tricuspid valve

Abstract

BACKGROUND: First described by Holt and Oram in 1960 in a four-generation family with atrial septal defects and thumb abnormalities, is an inherited disorder characterized by abnormalities of the upper limbs and heart. This syndrome is characterized by upper extremity malformations involving radial, thenar, or carpal bones. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. About 75% of individuals with Holt–Oram syndrome (HOS) have a congenital heart malformation which may include an atrial or ventricular septal defect or heart block. In rare cases, the syndrome can affect other organs and systems which can be life threatening.

CASE REPORT: Here, we present a newborn with clinical and radiologic features of HOS consisting of bilateral asymmetric hypoplastic thumbs, generalized brachydactyly, limited bilateral supination due to radioulnar synostosis, and associated with complex heart disease and hypoplastic tricuspid valve.

CONCLUSION: In our case HOS is associated with complex congenital heart defects including atrial septal defect, ventricular septal defect with hypoplastic tricuspid valve. Based on the listed literature we didn’t find any other case where tricuspid valve was affected.

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Author Biography

Ramush Bejiqi, Texas Health Science Center, University of Texas, San Antonio, Texas, USA; University of Gjakova “Fehmi Agani,” Medical School, Gjakova, Kosovo; Department of Cardiology, Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo

Ramush Bejiqi was born in 1961, in Rama Baje, Medvedja, Yugoslavia. He has graduated medicine 1981-1986 at the Medical Facality in Nish, Serbia, where he completed Master of Scineces in imunology and alergology (1986 â€“ 1988). He also finished his pediatric specialisation (5 years) in Nish, Serbia (1991 â€“ 1995), as well as subspecialization in cardiology (2 years) in Belgrade, Serbia (1995 â€“ 1997). He defended his PhD in area of congenital heart disease, titeled: â€œCongenital Heart Disease in Neonates with Central Cyanosisâ€ in Tirana, Albania (2010). He was trained in transthoracic echocardiography, transesophageal echocardiography, 3D, 4D; fetal echocardiography; interventional pediatric cardiology; and abdominal echosonography. He started his professional carrea in 1986-1991 at Medical Center, Leskovac, Medvedja, Serbia. From 1991 and onward he is employed at the Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo. From March, 2010 he is President of Pediatric Association of Republic of Kosovo. He is Member of European Association of Pediatric Cardiologist; Member of American College of Cardiology; Fellow of American College of Cardiology, New Orelans, USA; Member of Editorial Board of Medical Journal â€œMedicusâ€, Republic of Macedonia. In March 2011 he was elected as a Director of Pediatric Emergency in Prishtina; in September, 2011 he was elected as a Director of Board for developing Cardiac Surgery Center in Prishtina; and Director of 1st Pediatric School of Pediatric Association of Republic of Kosovo.

References

Holt-oram Syndrome. Genetics Home Reference. U.S. National Library of Medicine; 2014. Available from: http://ghr.nlm.nih.gov/ condition/holt-oram-syndrome. [Last accessed on 2018 Apr 18].

McDermott DA, Fong JC, Basson CT. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, et al, editors. Holt-oram Syndrome. GeneReviews®. Seattle, WA: University of Washington, Seattle; 2004.

Virdis G, Dessole M, Dessole S, Ambrosini G, Cosmi E, Cherchil PL, et al. Holt-oram syndrome: A case report and review of the literature. Clin Exp Obstet Gynecol. 2016;43(1):137-9. PMid:27048037

Barisic I, Boban L, Greenlees R, Garne E, Wellesley D, Calzolari E, et al. Holt-oram syndrome: A registry-based study in Europe. Orphanet J Rare Dis. 2014;9:156. https://doi. org/10.1186/s13023-014-0156-y PMid:25344219

McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, BruecknerM, et al. TBX5 genetic testing validates strict clinical criteria for holt-oram syndrome. Pediatr Res. 2005;58(5):981-6. https://doi.org/10.1203/01.pdr.0000182593.95441.64 PMid:16183809

Moskowitz IP, Kim JB, Moore ML, Wolf CM, Peterson MA, Shendure J, et al. A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development. Cell. 2007;129(7):1365-76. https://doi.org/10.1016/j. cell.2007.04.036 PMid:17604724

Sletten LJ, Pierpont ME. Variation in severity of cardiac disease in holt-oram syndrome. Am J Med Genet. 1996;65(2):128-32. https://doi.org/10.1002/ (sici)1096-8628(19961016)65:2<128:aid-ajmg9>3.0.co;2-o PMid:8911604

Sinha R, Nema C. Rare cardiac defect in holt-oram syndrome. Cardiovasc J Afr. 2012;23(2):e3-4.

Stoll C, Dott B, Alembik Y, Roth MP. Associated malformations among infants with radial ray deficiency. Genet Couns. 2013;24(2):223-34.