Showing posts with label autopsy. Show all posts
Showing posts with label autopsy. Show all posts

Thursday, September 1, 2022

September Awareness 2022 - Thoracic Aortic Disease - "Gradually, then Suddenly"

"Gradually, then suddenly." 

- The Sun Also Rises,
 Ernest Hemingway, 1926

What is happening in the walls of our largest artery, the aorta, gradually and silently, until one day, suddenly, there is a crisis? What about the pressure on a weakened aortic wall? 

My thoughts, as this September Awareness 2022 begins, are with a woman who lives in the eastern US.  She began this year deeply grieving the sudden death of her husband, reviewing his medical background, and bravely seeking answers, thinking of others in their family.

Sudden Aortic Death
It is an unspeakable tragedy when a long and happy life journey together ends without warning, without even a moment for any last expressions of love. 

Early in the morning, she heard the normal sounds of her husband arising, the routine start of a new day. But then, there was a great noise, the sounds of something falling on the stairs. She rushed to see what was wrong.

He never called to her, he never said her name. With her first glimpse of him, collapsed below her at the bottom of the stairs, she heard a little moan. By the time she reached him, he was already gone.

There were paramedics, but then instead of a rush to the emergency room, the wait for the medical examiner to come to their home.  Yes, he is among those who never reach a hospital alive.

The medical examiner called the next day to tell her what was found by autopsy: death was due to natural causes. What were those natural causes?  Cardiac tamponade due to aortic dissection. His heart could no longer beat, compressed rapidly into stillness by his own blood filling the sack around it.

Athletic,  Still Active and Youthful at 80!
Throughout his life, he was healthy and very athletic, excelling in rigorous sports. He remained very active and engaged in the community in his 80th year.

He had been seeing a cardiologist for about 6 years, because of his aorta.

They were told that he did not have an aortic aneurysm, "just an enlarged aorta". His wife interpreted that as "don't worry". He faithfully had annual visits with the cardiologist over those last 6 years.

After his death, his cardiologist told his widow that his aorta had only grown one centimeter in 6 years, and was not that large. He also mentioned his age as a consideration in terms of any intervention.

Some Details
He had a trileaflet aortic valve. He had a "funnel chest" that was never corrected by surgery. There is a bicuspid aortic valve in his blood relationship. 

What about his blood pressure? He was taking one blood pressure medication. He took blood pressure readings at home for awhile, and then later stopped.

What was his blood pressure during the days preceding and on the morning of his aortic crisis?

When the Thief Strikes
I hope it was some comfort to spend time with me, for her to tell me about this wonderful man so abruptly stolen from her. I think of her, together all those decades, coping through those first days, weeks, and now months without him.

There are many aortic specialty centers in that part of the United States where this family is. She cannot go with him for another opinion. The cruelty of this disease has done its worst.

She can, however, encourage their family, his living blood relatives, to seek out evaluation and care at one of them. Sadly, they now have a family history of a fatal aortic dissection to list on medical forms, due to the loss of a vibrant man, still youthful regardless of his number of birthdays. 

Yes, they know now that no matter what it is called, "enlarged aorta" or "aneurysm", it can kill. 

May rigorous pursuit of answers
prevent thoracic aortic disease
from gradually,
 then suddenly,
doing its worst.
~ Arlys Velebir
                         Bicuspid Aortic Foundation


Monday, February 7, 2022

When Sunset Comes too Soon - Remembering a Woman with BAV

Pacific Sunset 

This is written in remembrance of Julie . . . a wife, mother, grandmother, and so much more... I am calling her Julie here, not her real name, to preserve her privacy and that of her family.

She passed away suddenly, unexpectedly, about a month ago, on a day in early January 2022, not very long after saying goodbye to her own fragile, elderly mother in December.

She had no inkling that her own life would not be such a long one, that it would end suddenly that January day. Seemingly neither did anyone else. 

Her husband of over forty years was right there with her when her heart stopped, never to beat again despite all efforts. His love for her and their family enabled him, despite the tremendous shock and grief, to obtain the best private autopsy available. 

Among the findings listed, the pathologist examining her heart found her severely calcified stenotic bicuspid aortic valve and the enlarged left ventricle that had worked so hard to push her blood out to her body.

No one, not Julie, not any of the physicians she had ever seen, knew this about her.

There is one mention in her medical records, in 2018, of a heart murmur - seemingly heard just that once. No echocardiogram was done.

Other than being a "little tired" sometimes, so easily dismissed, there were no symptoms that might have prompted further investigation of her heart.

The autopsy report includes advice to her family to be screened since other blood relatives may be affected - a lifesaving gift to this family from their dearly beloved mother and courageous father, who must carry on without his soulmate. Along with Julie's BAV AS (aortic stenosis), all of the findings the autopsy reveals will help her family understand as much as possible about what caused her sudden death that day. 

It is not the first time I have spoken with someone shocked and grief-stricken by the sudden death of their loved one, where the bicuspid aortic valve, not the aorta is implicated.  Sometimes, as in Chuck Doherty's Sudden Death, Age 34, the presence of a bicuspid aortic valve was known to them and their physicians, but for others like Julie and her family, it remained unknown until after death.

May these deaths inspire us all to continue pressing for diagnosis in the living and greater understanding of those with BAV.

This Heart Month 2022,

 we remember Julie,

 a very special woman,

born with a bicuspid aortic valve, 

whose sun has set too soon. 

~Arlys Velebir,  Bicuspid Aortic Foundation

 





Thursday, May 12, 2016

What Happened to Amy?




This is Amy's story. Only her name has been changed, to protect privacy.



Where is Amy?

"It's just not like her, Amy would have let us know if she couldn't come!" And so a "welfare check" was requested. Her home was silent. There was no response to the doorbell, the knocks, the calls of her name. Something was terribly wrong!

They found Amy inside her home, lifeless. Apparently there had been no opportunity to even call for help.

What Happened to Amy?

Her family members were notified. The police arranged for her body to be taken directly to a local mortuary. Deeply shocked, her adult children needed answers. Their mother had been an active, independent, and apparently healthy woman. She did not even have high blood pressure. They thought she would be with them for many years to come. How could this happen, without warning?

 They needed answers.

In the place where Amy lived, no one offered to find those answers. After all, there was no evidence of a crime, no villain for the police to pursue. The death was clearly due to "natural causes". But, why? Is it really "natural" to die like this, without warning, when someone is so healthy?

Why Did Amy Die?

Amy's daughter told me that not knowing was unbearable to her family, much worse than the thought of an autopsy would be. Despite their tremendous shock at her sudden death, Amy's family found the strength and the financial resources to request a private autopsy. The local medical examiner was not available, and so Amy's family found their way to someone they describe as special, a compassionate, caring physician who carefully examined their mother's body and helped them understand.  What that physician found inside would have been a gruesome sight.

Quite simply, Amy bled to death. Unknown to her, she had an aortic aneurysm in her chest just above a bicuspid aortic valve in her heart. Because there was an autopsy, Amy's death certificate is accurate, stating that death was caused by the rupture of an aortic aneurysm in the presence of a bicuspid aortic valve (BAV).

Courage to Press for Answers

Sometimes families cannot bear the thought of an autopsy on their loved one.  There also may be veiled opposition, if the death occurs in a hospital, from a medical establishment that fears malpractice lawsuits. Sadly, the days of Dr. M.E. Abbott and Sir William Osler, who learned from autopsies and published extensively about aortic disease in the chest, are gone. As with Amy's family, it is the survivors' legal right to have an autopsy, but they may have to pay for it.

Knowledge - a Gift of Life 

Amy's family was left with the sad, painful task of sorting through her things, closing her home. She was an avid reader, and they found many articles about keeping healthy, preventing disease. Among them may have been the usual warnings about preventing stroke and "heart disease". Like many with BAV, Amy's arteries in her heart were perfectly clean. She was not at risk of a heart attack. Sadly, there was nothing about BAV and aortic aneurysm, the condition that suddenly robbed her of life. Amy would not have even heard about what snatched her life away. If her family had not arranged a private autopsy, the reason for her death and the potential threat to their own lives would never have been known by anyone at all.

Knowledge like this comes at an unspeakable price. It is a price too high, too great to pay. It should not happen.  There is a well known medical center not far from where Amy lived that could have performed her aneurysm surgery. They do this surgery frequently, perhaps almost every day.

Amy's blood relatives are educating themselves, being checked for BAV and/or aortic aneurysm. No one needs to tell them why now.

They know.

The Uncounted

The Bicuspid Aortic Foundation remains extremely concerned about the uncounted deaths due to BAV and aneurysm complications. Amy could easily have been one of those uncounted deaths, if her family had not had the courage and ability to seek the truth. Sudden deaths are too often simply recorded as due to natural causes, perhaps assumed to be due to a heart attack, but without any proof. 

The lack of understanding and recognition of aortic dissection/rupture deaths in the presence of BAV, as well as sudden aortic valve related deaths has consequences not just for those who die, but for the living.

Other blood relatives may be at risk. But there are also consequences for the entire BAV population. Because these people are uncounted, they are not found in the statistics, not included in the medical papers published about patients who receive treatment. How can we understand those most at risk, those who may never even reach a hospital, if we don't learn from them? We don't even know why they died! And so, the statistics upon which treatment of the living is based can not include these unknowns, perhaps the most vulnerable, the most fragile. Must they continue to die?


 Who Will Speak for Me?
Amy began this year, 2016, as we all did, with plans and hopes for her future. They were never to be realized, because she had been born with a bicuspid aortic valve, and over time an aneurysm developed. Today her voice is silenced. Who will speak for her, and the others we lose? 


At the Bicuspid Aortic Foundation we can help give them a  voice and bring into focus these most vulnerable. We are enlisting the aid of pathologists to do so.
They are the physicians who speak for the dead, and in doing so, may save the living. We are also encouraging families where sudden death has occurred to take courage and inspiration from Amy's story, and seek the answers they need.


In giving a voice to Amy,
And others we have lost,
May we help the living
And in their memory, 
Create a Climate of Hope.

- Arlys Velebir