ß 2007 Wiley-Liss, Inc. American Journal of Medical Genetics Part A 143A:2062–2064 (2007) Research Letter Cardiac Findings in Weill–Marchesani Syndrome Javad Kojuri, 1 * Mohammad Reza Razeghinejad, 2 and Amir Aslani 1 1 Cardiology Department, Nemazee Hospital, Shiraz Medical School, Shiraz, Iran 2 Ophthalmology Department, Khalili Hospital, Shiraz Medical School, Shiraz, Iran Received 30 September 2006; Accepted 16 April 2007 How to cite this article: Kojuri J, Razeghinejad MR, Aslani A. 2007. Cardiac findings in Weill – Marchesani syndrome. Am J Med Genet Part A 143A:2062 – 2064. To the Editor: Weill-Marchesani syndrome (WMS) is a rare inherited disorder of connective tissue first described by Weill in 1932 [Weill, 1932] and further delineated by Marchesani [1939]. It is characterized by short stature, brachydactyly, joint stiffness, broad skull, heart defects and characteristic eye abnormalities including shallow orbits, microspherophakia, ectopia lentis, high myopia, and glaucoma [Faivre et al., 2003a; Harasymowycz and Wilson, 2004; Razeghinejad and Safavian, 2006]. Two modes of inheritance have been reported: autosomal domi- nant (OMIM #608328) and autosomal recessive (OMIM #277600) [Faivre et al., 2003a]. The diagnosis is based on the clinical manifestations since there is no biochemical test or histological marker [Dietlein et al., 1998; Asaoka et al., 2003]. Recently, mutations in ADAMTS10 (in autosomal recessive cases) and in FBN1 (in autosomal dominant cases) have been reported in some WMS patients [Dagoneau et al., 2004]. Mutations in ADAMTS10 are responsible for major impairment of the extracellular matrix not only in skin development but also in growth, lens, and heart development [Dagoneau et al., 2004]. Since only limited published data exist regarding cardiac manifestations in WMS, we evaluated electrocardio- graphic and echocardiographic features of six patients with WMS. Six patients with WMS, belonging to four indepen- dent families, were referred by an ophthalmologist for evaluation of the cardiovascular system. Patients 3, 4, and 5 are siblings. Parents were not related. All patients fulfilled the criteria [Megarbane et al., 2000] for WMS including short stature, brachydactyly, limitation of joint movement, enlarged interphalan- geal joints, severe myopia, and glaucoma. Table I summarizes the clinical features of each patient (editorial note: full facial photographs could not be obtained because of cultural/religious sensitivities). There were no cardiac problems, brachydactyly or short stature in the parents. A 12-lead electrocardiogram was recorded from each patient. Baseline cardiac rhythm, PR interval, QRS duration, QRS axis, QTc interval (corrected QT interval) and ST-T changes were determined. Both a junior and a senior investigator examined each ECG and recorded the results separately. Any discrepancies between the junior and senior investigators were resolved by joint re-review of the findings. Participating patients underwent transthor- acic echocardiography. The most noteworthy ECG abnormality was prolonged QTc (QTc > 0.46 sec) which was detected in three patients (50%) (Table II). The most common echocardiographic abnormality was mitral valve prolapse (MVP) which was detected in three patients (50%), two of whom also had prolonged QTc (Table III). The criterion for the diagnosis of MVP was systolic displacement of the mitral valve leaflets by more than 2 mm above the plane of the annulus in the parasternal view [Freed et al., 2002]. Patient 2 had severe congenital valvular aortic stenosis (maximum gradient ¼ 107 mmHg) and was scheduled for aortic valve replacement. Tricuspid and pulmonary valve, aortic root diameter, and left ventricular ejection fraction were normal. ECG studies have not been previously reported in WMS syndrome. Although there are many other causes of long QT interval, such as electrolyte disturbances (notably hypokalemia); antiarrhythmic agents and various non-antiarrhythmic drugs (tricyclic antidepressants, antimicrobial, antifungal, and antihistaminic agents), these patients had not been known to use such medications, nor were electrolyte imbalances present. Because QT interval prolongation can be associated with serious *Correspondence to: Amir Aslani, M.D., Cardiology Department, Namazee Hospital, P.O. Box: 71935-1334, Shiraz, Iran. E-mail: happylife12@yahoo.com DOI 10.1002/ajmg.a.31861