James M. Hammel

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications

Myhre syndrome, a connective tissue disorder characterized by deafness, restricted joint movement, compact body habitus, and distinctive craniofacial and skeletal features, is caused by heterozygous mutations in SMAD4. Cardiac manifestations reported to date have included patent ductus arteriosus, septal defects, aortic coarctation and pericarditis. We present five previously unreported patients with Myhre syndrome. Despite varied clinical phenotypes all had significant cardiac and/or pulmonary pathology and abnormal wound healing. Included herein is the first report of cardiac transplantation in patients with Myhre syndrome. A progressive and markedly abnormal fibroproliferative response to surgical intervention is a newly delineated complication that occurred in all patients and contributes to our understanding of the natural history of this disorder. We recommend routine cardiopulmonary surveillance for patients with Myhre syndrome. Surgical intervention should be approached with extreme caution and with as little invasion as possible as the propensity to develop fibrosis/scar tissue is dramatic and can cause significant morbidity and mortality.

Descending Aortic and Innominate Artery Cannulation for Aortic Arch Repair With Mildly Hypothermic Continuous Cardiopulmonary Bypass in Infants and Children

A technique is described for exposure of the descending aorta, allowing separate arterial cannulation for perfusion of the upper and lower body during reconstruction of the aortic arch, maintaining continuous full-flow cardiopulmonary bypass to the entire body. This single technique is applicable to all aortic arch pathologies and allows an unhurried aortic reconstruction in an unobstructed field.

“Closed-Vein” Technique for Primary Sutureless Repair of Anomalous Pulmonary Venous Connection

Deep hypothermic circulatory arrest or low-flow bypass are commonly used in primary repair of total anomalous pulmonary venous connection, or individual veins may be dissected to allow clamp or snare application, in order to provide a bloodless field for anastomosis by the direct or sutureless marsupialization technique. In the described technical modification, the marsupialization of the opened atrium to the posterior pericardium is completed before opening the pulmonary venous confluence, allowing bloodless exposure during full-flow normothermic bypass. In addition, vein branch dissection is avoided.