Leipzig: Mother and son undergo life-saving heart surgeries
Since birth, Michelle Bönisch has known that she suffers from Marfan syndrome. The genetic mutation is inherited in an autosomal dominant manner and only rarely occurs as a spontaneous mutation. Her grandfather, mother, and three siblings are also affected by the rare connective tissue disorder, and her five-year-old son Jonas is affected as well. The symptoms most commonly involve the skeleton, eyes, and cardiovascular system. Due to the genetic defect, the production of the protein fibrillin-1 is impaired. Fibrillin-1 is a key component of microfibrils, which form the structural framework of elastic fibers in connective tissue. As a result, the mutation weakens the connective tissue. Affected individuals are typically tall and have long arms, legs, and fingers, as well as joint hypermobility, eye problems, and cardiac abnormalities.
Dr. med. Florian Löffelbein, Senior Physician in Pediatric Cardiology at the Leipzig Heart Center, explains: "In the heart, the connective tissue disorder can, among other effects, cause the vessels close to the heart to dilate pathologically, placing them at high risk of rupture. In the event of a so-called dissection, for example of the aorta, a life-threatening situation arises that requires extremely rapid action. For this reason, we closely monitor affected children and adults in our specialized Marfan clinics. In doing so, we measure the extent of dilation of the main artery (the aorta). If the measurement falls within a critical range or increases rapidly, surgical intervention becomes unavoidable in order to prevent a life-threatening situation."
Priv.-Doz. Dr. med. Marcel Vollroth, Lead Senior Physician of Pediatric Cardiac Surgery at the Leipzig Heart Center, adds:
“As a rule, dilation of the main artery in children is usually not yet pronounced, and surgery is typically indicated only in adulthood. In Jonas’s case, however, the dilation was as severe and progressed as rapidly as in an adult patient, and moreover occurred in a critical segment of the aorta. As a result, we were compelled to perform the procedure already at this stage, just a few months after his mother’s operation.”
“In the so-called David procedure, patients are connected to a heart–lung machine, the heart is arrested, and the dilated aortic root is excised. The patient’s native aortic valve is preserved by placing a prosthesis over it. In the mother’s case, an additional mitral valve reconstruction was performed, during which normal valve closure was restored using artificial chordae tendineae. The procedure is highly complex and lasts several hours,” explains Priv.-Doz. Dr. med. Alexey Dashkevich, Lead Senior Physician at the Clinic for Cardiac Surgery.
Priv.-Doz. Dr. med. Marcel Vollroth adds:
“The David procedure is generally not performed in children and, if at all, usually only from adolescence onward. However, thanks to the exceptional expertise of the Leipzig Heart Center and the interdisciplinary collaboration between pediatric cardiac surgery, pediatric cardiology, and cardiac surgery, we were nevertheless able to successfully perform the operation on Jonas. Our experience, together with the team at the EMAH center—where children and adults are treated together—played a key role in this medical success.”
“Because I underwent the surgery myself in January, I naturally knew exactly what Jonas would be facing. I was incredibly nervous, but I was able to explain to him very clearly what would happen and what the next steps would be afterward. Looking back now, I am overjoyed that we got through both operations successfully. As a family, we received excellent care at the Leipzig Heart Center, and everyone was there for us. Now Jonas can finally run around and play again—he’s impossible to stop. And I can once again truly take care of Jonas. Everything is possible again now, and we are looking forward to our everyday life at home,” says mother Michelle, gratefully reflecting on the two surgeries.
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