Where Are the BAV Children Now?

Sometimes the Bicuspid Aortic Foundation receives email like the following. It makes us feel very sad and concerned. Please note that the letter below is based on real experience. However,  some wording has been changed and all identifying information removed. Any resemblance to actual persons, living or deceased, is accidental only.

Dear Bicuspid Aortic Foundation,

My daughter was diagnosed with a bicuspid aortic valve when she was 15 years old. I still have the report of her first echocardiogram, which says she had mild to moderate aortic insufficiency. She had a second echo three years later. That was the last echo she had.

My problem is that my beautiful daughter has always been quite active and has never felt any obvious problems from her heart. She never took this issue seriously, I guess, until lately. She feels fatigued, her legs and ankles swell so badly, sometimes she is unable to pull her jeans over her legs. She has pressure in her chest. Generally, she just feels very badly. I am so concerned. She is now 36 years old, and her children need her. 

Sincerely,

A Worried Mother

In 2007, physicians from London's heart hospital wrote about two men with BAV, raising a similar concern in this paper: An undiagnosed bicuspid aortic valve can result in severe left ventricular failure .

The first man was described as follows: "A 48 year old builder presented with shortness of breath at rest and mild icterus. He had been prescribed antibiotics for a presumed chest infection when he visited his general practitioner six months earlier. A heart murmur was noted during that consultation but not followed up. He later recalled that as a child he underwent annual review for a heart murmur. At age 16 he was reassured and discharged from clinic." What happened to this man? He could not wait for a scheduled surgery date, because his liver and kidneys began to fail. He survived the surgery (the BAV taken out was so calcified, the opening was described as a "pin hole"), but his left ventricle had not recovered its function when the paper was written. Permanent heart damage, at the age of 48. A tragedy.

The second man's story begins "A 46 year old postman was admitted with increasing shortness of breath on minimal exertion (New York Heart Association functional class III). In early childhood, he had been diagnosed with a heart murmur and followed up in a tertiary centre. At age 10 he was either discharged or stopped attending appointments." What happened to him? "He underwent urgent aortic valve replacement during that admission. The ascending aorta measured 5 cm intraoperatively and was therefore also replaced."

From the authors' discussion, "Our cases highlight the potential complications of a bicuspid valve, which could have been prevented by regular monitoring and earlier surgery. Avoiding urgent and emergency surgery has advantages in terms of surgical mortality (perioperative mortality for first time aortic valve replacement in the United Kingdom: emergency surgery 12%; urgent 5%; elective 1.9%; personal communication, Bruce Keogh, Society of Cardiothoracic Surgeons and AD Cunningham, Central Cardiac Audit Database) and the longer term effects of ventricular impairment. Bicuspid valves are present in many people who were reassured in early life or lost to follow-up and in many “healthy” middle aged men whose hearts have never been examined."

This baby grew up to have an experience

similar to the builder described above, with

one  important difference - his heart fully

 recovered after valve replacement surgery.

The message is an important one for adults - if you remember being told about a heart murmur or bicuspid aortic valve as a child, don't wait for symptoms. Get checked as soon as possible, before your heart is permanently damaged or your aorta causes an emergency.

And for parents of children with BAV or even seemingly innocent heart murmurs, do all you can to be sure they are not "lost to follow up". It just might make all the difference between disability, even death, and continuing a normal, active life.

Best wishes from the Bicuspid Aortic Foundation