Smith-Magenis syndrome and new cardiac findings

chromosome 17

This article discusses Smith-Magenis syndrome along with new functional cardiac findings and a review of the literature.

It is known that some patients with Smith-Magenis syndrome (SMS) have congenital heart disease (CHD), but detailed examination of the cardiac function in SMS patients has not been performed. The authors examined 24 unrelated patients with SMS (13 females, 11 males). The mean age of the studied patients was 12 years. Only one patient had a point mutation in the RAI1 gene, and all others had a typical 17p11.2 deletion. All examined patients had a two-dimensional color Doppler echocardiogram. The internal diameter in diastole and systole of the left ventricle (LV), interventricular septum diastolic and systolic thickness, aortic root and left atrium were assessed in all studied patients. CHD was found in 6 patients (atrial septal defect – 2, tetralogy of Fallot – 2, ventricular septal defect – 1, persistent left superior vena cava – 1). Different rhythm abnormalities were found in 3 patients. Peak systolic velocity and peak diastolic early velocity were significantly reduced in SMS patients when compared to the control group. Statistically significant differences were found also in the LV diameter during systole, mass of the LV, ejection fraction and especially in the mass of LV regarding body surface area. The last index in SMS patients was only 55.6 (in the control group it was 82.7). At the same time there were no significant differences regarding size of the aorta and aortic annulus. This data may be important for preventing myocardial dysfunction in SMS patients.

Onesimo R. et al. “Smith-Magenis syndrome: report of morphological and new functional cardiac findings with review of the literature”. “Amer. J. Med. Genet.” 2021, v. 185 (7), 2003-2011.

Newly published articles are selected for inclusion on the Chromosome Disorder Outreach research pages by Dr. Iosif Lurie, M.D. Ph.D. Medical Geneticist CDO Medical Advisor. For more information on any article please contact info@chromodisorder.org