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Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints and abnormally curved spines. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms is variable.
The aortic valve is a valve in the heart of humans and most other animals, located between the left ventricle and the aorta. It is one of the four valves of the heart and one of the two semilunar valves, the other being the pulmonary valve. The aortic valve normally has three cusps or leaflets, although in 1–2% of the population it is found to congenitally have two leaflets. The aortic valve is the last structure in the heart the blood travels through before stopping the flow through the systemic circulation.
Aortic dissection (AD) occurs when an injury to the innermost layer of the aorta allows blood to flow between the layers of the aortic wall, forcing the layers apart. In most cases, this is associated with a sudden onset of severe chest or back pain, often described as "tearing" in character. Vomiting, sweating, and lightheadedness may also occur. Damage to other organs may result from the decreased blood supply, such as stroke, lower extremity ischemia, or mesenteric ischemia. Aortic dissection can quickly lead to death from insufficient blood flow to the heart or complete rupture of the aorta.
Aneurysm of the aortic sinus, also known as the sinus of Valsalva, is a rare abnormality of the aorta, the largest artery in the body. The aorta normally has three small pouches that sit directly above the aortic valve, and an aneurysm of one of these sinuses is a thin-walled swelling. Aneurysms may affect the right (65–85%), non-coronary (10–30%), or rarely the left coronary sinus. These aneurysms may not cause any symptoms but if large can cause shortness of breath, palpitations or blackouts. Aortic sinus aneurysms can burst or rupture into adjacent cardiac chambers, which can lead to heart failure if untreated.
A thoracic aortic aneurysm is an aortic aneurysm that presents primarily in the thorax.
Aortic valve replacement is a procedure whereby the failing aortic valve of a patient's heart is replaced with an artificial heart valve. The aortic valve may need to be replaced because:
Tirone Esperidiao David, is a Brazilian-born Canadian cardiac surgeon and professor of surgery at the University of Toronto. He is an attending cardiac surgeon at the Peter Munk Cardiac Centre, Toronto General Hospital. He is known for his 2007 development of a valve sparing aortic root replacement procedure to preserve the aortic valve in patients with aortic root aneurysms such as in Marfan syndrome; it is now known as the "David Operation".
Valvular heart disease is any cardiovascular disease process involving one or more of the four valves of the heart. These conditions occur largely as a consequence of aging, but may also be the result of congenital (inborn) abnormalities or specific disease or physiologic processes including rheumatic heart disease and pregnancy.
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta. Aneurysms and dissections also can occur in arteries other than the aorta. Because aneurysms in children tend to rupture early, children are at greater risk for dying if the syndrome is not identified. Surgery to repair aortic aneurysms is essential for treatment.
Valve-sparing aortic root replacement is a cardiac surgery procedure which is used to treat Aortic aneurysms and to prevent Aortic dissection. It involves replacement of the aortic root without replacement of the aortic valve. Two similar procedures were developed, one by Sir Magdi Yacoub, and another by Tirone David.
The Bentall procedure is a type of cardiac surgery involving composite graft replacement of the aortic valve, aortic root, and ascending aorta, with re-implantation of the coronary arteries into the graft. This operation is used to treat combined disease of the aortic valve and ascending aorta, including lesions associated with Marfan syndrome. The Bentall procedure was first described in 1968 by Hugh Bentall and Antony De Bono. It is considered a standard for individuals who require aortic root replacement, and the vast majority of individuals who undergo the surgery receive mechanical valves.
The Ross procedure, also known as pulmonary autograft, is a heart valve replacement operation to treat severe aortic valve disease, such as in children and young adults with a bicuspid aortic valve. It involves removing the diseased aortic valve, situated at the exit of the left side of the heart, and replacing it with the person's own healthy pulmonary valve (autograft), removed from the exit of the heart's right side. To reconstruct the right sided exit, a pulmonary valve from a cadaver (homograft), or a stentless xenograft, is used to replace the removed pulmonary valve. Compared to a mechanical valve replacement, it avoids the requirement for thinning the blood, has favourable blood flow dynamics, allows growth of the valve with growth of the child and has less risk of endocarditis.
Lars Georg Svensson is a cardiac surgeon and the chairman of the heart and vascular institute at Cleveland Clinic. He is the Director of the Aorta Center, Director of the Marfan Syndrome and Connective Tissue Disorder Clinic, and is a professor of surgery at Cleveland Clinic Lerner College of Medicine and Case Western Reserve University. He is also the Director of Quality Outcomes and Process Improvement for the Department of Thoracic and Cardiovascular Surgery and Affiliate Cardiac Surgery Program at Cleveland Clinic.
Hugh Bentall FRCS was a British surgeon who pioneered open-heart surgery.
Giuseppe Di Benedetto is an Italian cardiac surgeon born in Eboli on 8 January 1946, He holds the Italian national record for the use of carbon dioxide laser to perform revascularization trans-myocardial otherwise inoperable; specialized in congenital diseases of cardiovascular system, is one of the few surgeons in the world that practice successfully the surgery of aortic arch.
Hans-Joachim Schäfers is a German surgeon, as well as cardiac, thoracic, and vascular surgeon and university professor. He is director of the department of Thoracic and Cardiovascular Surgery at the Saarland University Medical Center in Homburg/Saar, Germany. He is known for his activities in aortic valve repair, aortic surgery, and pulmonary endarterectomy.
Marjan Jahangiri FRCS, FRCS (CTh) is Professor of Cardiac Surgery at St. George's Hospital, University of London. She was the first woman to be appointed professor of cardiac surgery in the United Kingdom and Europe.
John D. Puskas is an American researcher, author, inventor and cardiovascular surgeon. As of 2022, he is Professor, Cardiovascular Surgery, Icahn School of Medicine at Mount Sinai, and chairman, Department of Cardiovascular Surgery at Mount Sinai Morningside, Mount Sinai Beth Israel and Mount Sinai West. He holds 11 U.S. patents and co-founded the International Coronary Congress and the International Society for Coronary Artery Surgery. He is credited by ResearchGate with 330 publications and 15,234 citations and as of 2022 Scopus reports an h-index of 62. Puskas is known for advancing coronary artery bypass (CABG) surgery by refining surgical techniques for all-arterial, off-pump CABG and inventing finer instruments to be used for advanced coronary bypass surgical procedures. He is credited with performing the first totally thoracoscopic bilateral pulmonary vein isolation procedure. He is the co-editor of State of the Art Surgical Coronary Revascularization, the first textbook solely devoted to coronary artery surgery.
Joseph Lamelas is a Cuban-American cardiothoracic surgeon, working in Miami, Florida, who developed the "Miami method", a technique for minimally invasive approach to aortic valve replacement and repair. Lamelas is the Chief of Cardiac surgery and Professor of Surgery at the University of Miami Leonard M. Miller School of Medicine. He is board certified in general surgery, cardiac surgery and thoracic surgery, and surgical critical care, and is a member of the American Association for Thoracic Surgery (AATS) and the Society of Thoracic Surgeons (STS).
Joseph E. Bavaria, M.D., FACS, FRCS (Edin) ad hom, is an American cardiothoracic surgeon a professor of surgery at the University of Pennsylvania and Director of its Thoracic Aortic Surgery Program. Bavaria is known as a leading figure in clinical trials for catheter-based aortic valve replacement (TAVR), thoracic aortic surgery, and aortic endograft procedures (TEVAR). He wrote more than 600 research papers and founded the Penn Aortic Center. Bavaria served as the 52nd president of the Society of Thoracic Surgeons (STS) from 2016 to 2017, the 3rd President of the Thoracic Surgery Foundation (TSF) (2019-2022), the Chairman of The Society of Thoracic Surgeons/ACC TVT Registry Steering Committee (2017-2020) and an International Councilor of the European Association for Cardio-Thoracic Surgery (EACTS) (2021-2024) Bavaria has performed more than 9,000 surgeries throughout his career as of 2019.
References
- ↑ "Duke Cameron". Archived from the original on December 23, 2022. Retrieved December 23, 2022.
