Holt-Oram Syndrome With Multiple Cardiac Abnormalities.

Autor:	Spiridon MR; Cardiology Department, 'St. Spiridon' Emergency Hospital, Iasi, Romania., Petris AO; Cardiology Department, 'St. Spiridon' Emergency Hospital, Iasi, Romania.; Cardiology Department, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Gorduza EV; Medical Genetics Department, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Petras AS; Cardiology Department, 'St. Spiridon' Emergency Hospital, Iasi, Romania., Popescu R; Medical Genetics Department, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Caba L; Medical Genetics Department, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania.
Jazyk:	angličtina
Zdroj:	Cardiology research [Cardiol Res] 2018 Oct; Vol. 9 (5), pp. 324-329. Date of Electronic Publication: 2018 Oct 07.
DOI:	10.14740/cr767w
Abstrakt:	Holt-Oram syndrome (HOS) is a rare monogenic disorder characterized by upper limb abnormalities, congenital heart defects and/or conduction abnormalities. It is determined by mutations of TBX5 gene and is inherited in an autosomal dominant manner. Penetrance is complete, but variable expressivity is present, which gives sometimes diagnostic difficulties. Our case is a young adult with a personal history of preaxial polydactyly operated in infancy, multiple cardiac malformations (atrial septal defect, bicuspid aortic valve, left ventricular non-compaction) and radiologic findings consistent with HOS. Family history is negative for HOS. In conclusion, we present a case of HOS diagnosed in the adult period to highlight the diagnostic problems for the proband and the family and the importance of an early diagnostic. Competing Interests: The authors have no conflict of interest to declare.
Databáze:	MEDLINE
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