Bicuspid Aortic Foundation View From Here December 2006

December 2006

Bicuspid Aortic Valve Disease - What is it? Something simple? Something new?

What does it mean to be born with an aortic valve that has only two leaflets instead of three? On the surface, it seems deceptively simple. But the simplicity fades, the seriousness deepens when at some point, either before or after the bicuspid aortic valve has been found, there is aortic aneurysm or dissection in the chest. Sometimes the aorta also has another problem - there is a narrowing called coarctation. Today many individuals recognize other connective tissue abnormalities elsewhere in their bodies. And there is an increased risk of brain aneurysms also. Blood pressure may soar dangerously high, and cardiac arrhythmias sometimes develop. All this is in addition to the commonly recognized risks of infection or failure of the valve itself. No, it is not simple after all.

And no, it is not new.

Recently someone asked when the first papers about BAVD were published. The bicuspid aortic valve and its complications are not a phenomenon of modern life. Many of us will be surprised that the first image of a BAV was recorded not by sophisticated technology but drawn by the hand of Leonardo di Vinci several hundred years ago.

The very earliest works published are not online in PubMed, but listings of publications about BAVD from the later 1900's are there. Searching PubMed recently for "Bicuspid Aortic Valve" produced a list of 716 papers from 1952 until the present. The vast majority, 659 papers, from that list have been published since 1980. Since 1990, 545 of the listed papers were published, 79 of them between January and November of 2006 .

Following are a few papers that I have listed as milestones in the history of bicuspid aortic valve disease, as recorded in the medical literature.

Over 400 years ago - It is probably approaching 500 years since a BAV was included in a drawing by Leonardo di Vinci. The sketch is reproduced in Figure 1 of the following paper.
("The Bicuspid Aortic Valve", by Braverman, et.al., Figure 1, Current Problems in Cardiology, September, 2005)

1865 - BAV associated with stenosis, regurgitation, endocarditis
("Valvular disease of the heart", by TB Peacock, London: Churchill, 1865;2-33)

1928 - M. Abbott's paper cites an association between BAV and rupture of the ascending aorta, suggesting thinning of the aortic wall might be part of the same abnormality as the BAV.
("Coarctation of the aorta of the adut type. II. A statistical study and historical retrospect of 200 recorded cases, with autopsy, of stenosis or obliteration of the descending arch in subjects above the age of two years", by M. Abbott, American Heart Journal, 1928)

1952 - R. Reid publishes a paper entitled "Bicuspid aortic valve associated with aneurysmal dilatation of the ascending aorta".
("Bicuspid aortic valve associated with aneurysmal dilatation of the ascending aorta", The Medical Journal of Australia, November, 1952)

1972 - V. McKusick described BAV and medial necrosis of the aorta in connection with a father and son who were both bicuspid and died of aortic dissection.
("Association of congenital bicuspid aortic valve and erdheim's cystic medial necrosis", Lancet, 1972)

1974 - In the earliest of days, physicians could only listen to the chest and learn though autopsies. The statistics we have today about the incidence of BAVs are from autopsy studies published in 1886, 1970, 1972, and 1997 (from Clinical Significance of Bicuspid Aortic Valve by C Ward ). Technology has brought the ability to "see" into the chest, through x-rays, sound waves, and creation of a magnetic field. Echocardiography and BAV is first mentioned in 1974 in a paper by N Nanda and co-authors.
("Echocardiographic recognition of the congenital bicuspid aortic valve", by NC Nanda, et.al., Circulation, May, 1974)

1975 - Coractation of the aorta is mentioned in early papers regarding BAV. However, some other unusual things were being found in those with BAV. Among the papers published that mention this are those by CD Higgins, RB Jackson, and SJ Schang (and their co-authors) in 1975.

("Reversal of dominance of the coronary arterial system in isolated aortic stenosis and bicuspid aortic valve", by CD Higgins, et.al., Circulation, August, 1975)

("Subaortic stenosis, bicuspid aortic valve, single coronary artery and coarctation of the aorta", by RD Jackson, et.al., Collected Works on Cardio-Pulmonary Disease, December 1975)

("Anomalous coronary artery origin and bicuspid aortic valve", by SJ Schang, et.al., Vascular Surgery, March-April, 1975)

1978 - In December of this year, the British Heart Journal published a paper with the results of studying the inheritance of BAVD in 41 families.
("Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families."), by R Emanuel, et.al., British Heart Journal, December 1978)

1986 - Additional papers were published during the decade of the 1980's. Among them is this pathology paper about 6 young people with varying forms of aortic disease, including BAV. The risk of loss of life in the young, often athletic population remains a great concern to this day.
("Aortic root pathology and sudden death in youth: review of anatomical varieties", by G Thiene and SY Ho, Applied Pathology, 1986)

1988 - The bicuspid aortic valve continued to appear on the scene with other aortic abnormalities, as noted in a paper by J. Lindsay, Jr. in 1988.
("Coarctation of the aorta, bicuspid aortic valve and abnormal ascending aortic wall", J. Lindsay, Jr., American Journal of Cardiology, January, 1988)

1990 - A paper from the University of Chicago Hospital reported on a bicuspid aortic valve and dissection of an aortic aneurysm in a 22 year old man who underwent surgery but died on the eighth post operative day.
("Dissecting thoracic aortic aneurysm in a 22-year-old man", by KB O'Dell and SN Hakim,
Annals of Emergency Medicine, March, 1990)

1995, 1996, 2003 - The publications of Dr. Wouter Schievink and co-authors document the finding of BAV along with abnormalities of the head and neck vessels, which originate from a common source, neural crest cells.
("A syndrome of spontaneous cerebral and cervical artery dissections with angiolipomatosis. Report of two cases.", by W Schievink et.al,, Journal of Neurosurgery, May, 2003)

("Intracranial aneurysms and cervicocephalic arterial dissections associated with congenital heart disease.", by W Schievink, et.al., Neurosurgery, October, 1996)

("Familial aorto-cervicocephalic arterial dissections and congenitally bicuspid aortic valve", by W Schievink and B Mokri, Stroke, October 1995)

1998 - I will always be very grateful to someone I have never met. His name is Dr. John Burks, and along with others he published a paper in 1998 about bicuspid aortic valves in two young men who were his patients. In 2001, I was searching for information following the diagnosis of my husband's ascending aortic aneurysm. When I searched the Internet for "bicuspid aortic valve" and "aneurysm", the abstract of Dr. Burks' paper came up. From the abstract alone, I realized that my husband's aneurysm was related to being born with a bicuspid aortic valve, even though the BAV had been replaced in 1990. Following my husband's aneurysm surgery, I wrote to thank Dr. Burks and requested a copy of the entire paper. I count this paper among my treasures.
("Ascending aortic aneurysm and dissection in young adults with bicuspid aortic valve: implications for echocardiographic surveillance", by JM Burks, et.al., Clinical Cardiology, June, 1998)

2002 - At the Aortic Surgery Symposium in 2002, Dr.Claudio Russo presented a review of bicuspid aortic valve patients who had valve replacement surgery between 1975 and 1985 at his hospital in Milan, Italy. The fate of these individuals was followed through 2001. Of the 50 BAV patients studied, 5 had acute aortic dissection and there were 7 sudden deaths. Very large (greater than 6 cm) ascending aneurysms were discovered in 3, who underwent surgery. It also mentions that many of the acute aortic syndrome events or unexplained deaths occured 10 to 15 years after the valve was replaced. This paper recommends dealing with the ascending aorta when AVR is done for BAV, regardless of the size of the ascending aorta. Very importantly, it establishes the need for careful monitoring following replacement of the bicuspid aortic valve.
("Aortic complications after bicuspid aortic valve replacement: long-term results", by CF Russo, et.al., The Annals of Thoracic Surgery, 2002)

2002 - Also in 2002, a BAVD paper was published from the University of Toronto.
("Clinical and Pathophysiological Implications of a Bicuspid Aortic Valve" by P Fedak, et.al., Circulation 2002)

2004 - A paper from Cincinnati Children's Hospital presents a study of the inheritance of BAVD. In the conclusion section, the first sentence states "The high heritability of BAV suggests that in this study population BAV determination is almost entirely genetic."
("Bicuspid aortic valve is heritable", by L Cripe, et.al., Journal of the American College of Cardiology, July 7, 2004)

2006 - The American College of Cardiology/American Heart Association Guidelines for Mangement of Valvular Heart Disease published earlier this year include bicuspid aortic valve and ascending aortic aneurysm. This is mentioned in a paper entitled "Approach to the patient with bicuspid aortic valve and ascending aorta aneurysm" from Northwestern University Fineberg School of Medicine in Chicago , published in Current Treatment Options of Cardiovascular Medicine, December 2006 - bringing us up to the present!

2007 and Beyond - What does the future hold?

Bicuspid aortic valve disease continues to adversely affect individuals and families. It apparently has done so for centuries. We cannot change the past - the lives lost, the injury suffered - but we can change the future, beginning from today!

As 2006 draws to a close and you consider where your charitable dollars can make a difference, I invite you to join in our mission. Educational events and materials for patients, families, and physicians are being planned for 2007. A donation in any amount will help make them a reality.

Together, we can alter the course of history. Together we can save lives.

Please visit our Donations page for additional details about making a donation.

In helping those with BAVD and other forms of familial TAAD,
you are creating a climate of hope.

Sincerely,
Arlys Velebir
Chair, Board of Directors
Bicuspid Aortic Foundation

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