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This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Alert me to new issues of the journal Add to Personal Folders Download to citation manager Author home page(s): Usman Ahmad Saulat H. Fatimi Permission Requests Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Ahmad, U. Articles by Khan, A. Search for Related Content PubMed Articles by Ahmad, U. Articles by Khan, A. Related Collections Great vessels Related Article

J Thorac Cardiovasc Surg 2007;134:819
© 2007 The American Association for Thoracic Surgery

Letter to the Editor

Reply to the Editor

^a Department of Surgery, Yale University, New Haven, Conn
^b Department of Surgery, Division of Cardiothoracic Surgery, Aga Khan University, Karachi, Pakistan

We thank Piacentini and associates for their interest in our article¹ and for their expert opinion on the topic. We would like to focus on three things.

The authors have discussed three new pedigrees of discrete subaortic stenosis (DSS), only one of which actually has true familial recurrence of DSS. The other two have family members affected by other forms of congenital heart defects, which may or may not have the same genetic basis. Their discussion, however, reiterates our conclusions that no single inheritance pattern can be pinpointed by reviewing the currently available evidence. Genetic heterogeneity and incomplete penetrance could also be important players. We agree with the authors concerning the autosomal recessive inheritance, and we think that given the currently available evidence there is a greater probability of autosomal recessive inheritance being at play in the familial causation. At the same time, most families with multiple affected members do not have consanguineous marriages, and this argues against involvement of recessive alleles. Hence no conclusion can be reached.

Second, as seen in acquired cardiovascular diseases, there may be differences in the relative contributions of the involved genes toward causing the phenotype in the various ethnic groups. Therefore, the pooling and comparison of data from different population subgroups may actually be misleading. However, owing to the scarcity of familial DSS patients at any one center, we still recommend a multicenter approach to get enough sample size for efficient genetic screening.

Last, it is important to reinforce the fact that screening of family members of apparently sporadic cases can lead to timely diagnosis and better follow-up of familial cases.

References

1. Fatimi SH, Ahmad U, Javed MA, Shamim S, Ahmad R. Familial membranous subaortic stenosis: review of familial inheritance patterns and a case report. J Thorac Cardiovasc Surg 2006;132:1484-1486.[Free Full Text]
   

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Alert me to new issues of the journal Add to Personal Folders Download to citation manager Author home page(s): Usman Ahmad Saulat H. Fatimi Permission Requests Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Ahmad, U. Articles by Khan, A. Search for Related Content PubMed Articles by Ahmad, U. Articles by Khan, A. Related Collections Great vessels Related Article