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J Thorac Cardiovasc Surg 2006;132:1484-1486
© 2006 The American Association for Thoracic Surgery

Brief Communication

Familial membranous subaortic stenosis: Review of familial inheritance patterns and a case report

^a Department of Surgery, Division of Cardiothoracic Surgery, Aga Khan University, Karachi, Pakistan
^b Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan
^c Baqai Medical College, Baqai University of Health Sciences, Karachi, Pakistan.

Received for publication August 9, 2006; accepted for publication August 28, 2006.

^_* Address for reprints: Usman Ahmad, MBBS, Department of Surgery, Division of Cardiothoracic Surgery, Aga Khan University Hospital, Stadium Rd, 74800 Karachi, Pakistan. (Email: usman.ahmad@aku.edu).

The first 20% of the full text of this article appears below.

Discrete subaortic stenosis (DSS) accounts for 8% to 20% of all cases of left ventricular outflow tract (LVOT) obstruction.¹ Familial incidence of DSS, although very rare, signifies the importance of screening in family members. Thus far, a clear inheritance pattern has not been reported in any single pedigree. We have described a family with 2 affected children (out of 3) and have also reviewed the inheritance patterns observed in the reported familial cases of DSS. Most cases of DSS present with systolic murmurs and with time progress to systolic dysfunction. Therefore we also explored the relationship between age and the peak LVOT pressure gradient in the familial cases.

Clinical Summary

Patient 1
A 3-month-old infant presented with recurrent pulmonary infections, congestive heart failure, and failure to thrive. On examination, he had a machinery murmur. Echocardiography revealed a large patent ductus arteriosus, mild pericardial effusion, severe left ventricular hypertrophy (LVH), moderate-to-severe subaortic stenosis, a normal aortic valve, and the presence of a subaortic membrane (Figure E1, A). The peak pressure gradient was 70 mm Hg, and the mean pressure gradient was 45 mm Hg. The child underwent . . . [Full Text of this Article]

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				G. Piacentini, B. Marino, and M. C. Digilio Familial recurrence of discrete membranous subaortic stenosis J. Thorac. Cardiovasc. Surg., September 1, 2007; 134(3): 818 - 819. [Full Text] [PDF]

				U. Ahmad, S. H. Fatimi, M. A. Javed, and A. Khan Reply to the Editor J. Thorac. Cardiovasc. Surg., September 1, 2007; 134(3): 819 - 819. [Full Text] [PDF]