Recurrent Subclavian Steal Syndrome: A Novel Case of Vasculopathy
Out Of The Blue: Inflammatory Myofibroblastic Tumour Identified During Repair Of Tetralogy Of Fallot With Absent Pulmonary Valve
IntroductionPrimary cardiac tumours are rare in infants, with an incidence of 0.13%.Reference Syed, Al Mutairi, Al Muhaya, Morsey, Al Hujailey and Al Najjar1 The most common include rhabdomyoma, myxoma, fibroma, and teratoma.Reference Mizia-Malarz, Sobol-Milejska, Buchwald and Woś2,Reference Tian, Cheng and Yung3 Cardiac inflammatory myofibroblastic tumour accounts for <5% of all primary cardiac tumours.Reference Mizia-Malarz, Sobol-Milejska, Buchwald and Woś2 It is typically considered a low-grade neoplasm; however, left untreated intracardiac tumour can lead to significant morbidity and mortality.
Tetralogy of Fallot with absent pulmonary valve is a rare variant characterised by right ventricular hypertrophy, malaligned ventricular septal defect, overriding aorta, absent or hypoplastic pulmonary valve leaflets, and resultant pulmonary insufficiency in utero. This creates pulmonary arterial dilation and can compromise the airways, leading to broncho- or tracheomalacia. Tetralogy of Fallot with absent pulmonary valve is a rare form of CHD that affects 0.002–0.004% of babies born in the United States each year.Reference Zhou, Li, He and Wang7,8 We present the first documented case of a patient with both tetralogy of Fallot with absent pulmonary valve and cardiac inflammatory myofibroblastic tumour.
Case descriptionWe present a female infant born at 39 weeks with tetralogy of Fallot with absent pulmonary valve. Prenatal echocardiography revealed significant pulmonary stenosis, free pulmonary insufficiency, and severely dilated main and branch pulmonary arteries. This was confirmed postnatally. A 3/6 harsh systolic ejection murmur heard loudest at the left upper sternal border as well as a 1-2/4 diastolic murmur were noted on exam. Initial oxygen saturations were in the 70% range with minimal improvement with non-invasive support, so the patient was intubated. CT showed no significant airway compression.
The infant was followed closely in outpatient cardiology clinic and continued to grow and develop well the first 2 months of life. Parents reported occasional noisy breathing but denied hypoxic spells, dyspnoea, diaphoresis, or difficulty feeding. Home pulse ox readings were consistently >90% SpO2. The infant was evaluated by otolaryngology for noisy breathing and was not found to have any signs of airway obstruction. Surgical repair with ventricular septal defect closure and transannular patch was scheduled for 2.5 months of life as she was greater than 4 kg, with severe pulmonary stenosis at the annulus.
Intraoperative transesophageal echocardiogram revealed findings concerning for a mass versus clot in the right atrium (Supplementary Video 1). The patient was placed on cardiopulmonary bypass, and the right atrium was carefully accessed. Upon direct exposure, a mass was attached to the right atrium between the appendage and the superior caval vein requiring a small patch of atrial wall be excised to fully remove the mass. The atrium was repaired with autologous pericardium. The ventricular septal defect was closed with a Gore-tex patch, and the right ventricular outflow tract obstruction was addressed with a transannular patch and resection of infundibular muscle. The patient's CT at birth, thorough exam with our otolaryngology colleagues, and echocardiographic measurements of branch pulmonary arteries with Z score between +3 and +4 did not suggest a need for plication or other manoeuvre to decrease the size of the branch pulmonary arteries as is sometimes required in this variant.
Histologic examination of the tumour was performed by both our institution and an outside consultant. The mass is described as polypoid, well circumscribed, moderately cellular, and composed of spindle cells with fusiform nuclei, small nucleoli, and eosinophilic cytoplasm. There are scattered mitoses of normal configuration, along with foci of necrosis. Neither atypical mitoses nor cytologic atypia are present. Immunohistochemistry demonstrates diffuse positive expression of actin and focal expression of epithelial membrane antigen. Stains for ALK1, cytokeratin cocktail, desmin, MYOD1, myogenin, CD30, CD31, CD34, CD163, and HHV8 are negative. The proliferation rate is 45%, as estimated from the Ki-67 nuclear labelling index.
On review of the prior echocardiograms, the mass was not evident on the study at birth, and the most recent study at 1 month of life was limited by patient movement. In retrospect, the mass was present in one clip but smaller and appeared to be a part of the atrial wall. The patient recovered smoothly from surgery and was discharged on post-operative day 3. She is now 15 months old with free pulmonary insufficiency, evidence of normal right ventricular pressures, and excellent biventricular function.
DiscussionTetralogy of Fallot with absent pulmonary valve is a rare variant. Interestingly, only 50% of infants born with tetralogy of Fallot with absent pulmonary valve present with respiratory symptoms, and severity ranges from stridor to respiratory failure. Those without respiratory symptoms can be closely followed by outpatient cardiology until elective surgical repair at 4 to 6 months, similar to other tetralogy of Fallot patients. Cardiac inflammatory myofibroblastic tumours are rare without a clear predilection for a specific atrium, ventricle, or valve. Cardiac inflammatory myofibroblastic tumours do not metastasize or invade the heart and have the potential for regression both spontaneously or in response to steroids. The presenting symptoms are closely related to the size and location of the tumour and may present similarly to CHD. Symptoms commonly reported in infants include respiratory distress, diaphoresis, cyanosis, murmur, tachycardia, and decreased oral intake. Cardiac inflammatory myofibroblastic tumour is a difficult diagnosis to make and requires histological examination for definitive diagnosis. Histologically, it is characterised as a polypoid mass with spindle cells in a myxoid stroma consisting of lymphocytes and occasional plasma cells. Immunohistochemical analysis demonstrates that tumour cells express actin and vimentin, inconsistently express epithelial membrane antigen, CD31 and CD163, and do not express ALK1, S100, or CD34.Reference Syed, Al Mutairi, Al Muhaya, Morsey, Al Hujailey and Al Najjar1–Reference Elkiran, Karakurt, Erdil, Disli and Dagli6
Whenever possible, complete resection of cardiac inflammatory myofibroblastic tumour is the definitive treatment.Reference Elkiran, Karakurt, Erdil, Disli and Dagli6 When complete resection is not an option, partial resection while preserving cardiac function is the goal. Alternative or complementary treatments to partial resections included steroids, radiation therapy, chemotherapy (protein kinase inhibitor), and heart transplant. There is only one documented recurrence after resection, with no re-recurrence 18 months after repeat resection.Reference Tian, Cheng and Yung3 Failure to treat these benign neoplasms can be catastrophic due to direct coronary invasion, venous thromboembolism, or sudden death.Reference Tian, Cheng and Yung3,Reference Bilotta, Perrone and Maresi4 When managed surgically, cardiac inflammatory myofibroblastic tumours have a very favourable outcome.
ConclusionThis is the first documented case of a patient with both tetralogy of Fallot with absent pulmonary valve and cardiac inflammatory myofibroblastic tumour. Had our patient's CHD been less severe, surgical management of her CHD would have occurred later, and the cardiac inflammatory myofibroblastic tumour would have likely gone unnoticed until it progressed enough to cause symptoms.
Tetralogy Of Fallot News, Research And Latest Updates
Keep abreast with the latest news related to Tetralogy of Fallot there are 135 news items on Tetralogy of Fallot that covers updates, breakthroughs and in-depth reports.We provide you with a free downloadable secure widget for your website to carry news related to Tetralogy of Fallot."She Needs N8m For Surgery": Family Cries For Help As Daughter Is Diagnosed With Heart Disease
A Nigerian girl has been diagnosed with a rare heart condition, and she needs urgent surgery.
The girl, Mercy Ankar, is eight years old, but the condition was discovered when she was around two.
The girl is diagnosed with Tetralogy of Fallot, and her parents are seeking financial help. Photo credit: Lois Ugbede.Source: Original Information sent to Legit.Ng by journalist Lois Ugbede, who interacted with the family, shows that Mercy was diagnosed with Tetralogy of Fallot (TOF).
Mercy diagnosed at Garki Hospital, AbujaSome documents that were sent to Legit.Ng showed that Mercy was diagnosed at the Garki Hospital, Abuja. Dr. Kayode Alabi, a pediatric cardiologist, signed the diagnosis.
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Dr Alabi said:
"One of my patients has a hole in the heart. We have been trying to see how we can help her to have surgery, but it's been very difficult due to financial reasons. As the child is growing, if nothing is done about it, it can affect the child, and if care is not taken it can kill the child."
Parents cry to public for helpMeanwhile, Mercy's parents, John Ankar and his wife, Alice Ankar, do not have the financial capacity to pay for the needed surgery.
Alice, Mercy's mother, said:
"Her sickness is a result of a birth defect we discovered it when she was about two years and the cardiologist said that her hole is too wide and she must undergo heart surgery. As a result of this issue, my income could not match the expenses because she is placed permanently on treatment so right now I don't have any source of income again."
On his part, her father said the condition was discovered when they took her to the hospital for a different ailment.
His words:
"When we gave birth to her, she had a problem with her right hand so we took her to the defence medical centre in Abacha Barracks. The Dr there then started telling us that this baby has a problem with the heart so they now referred us to the National Hospital to take care of the hand. We later came across a corper doctor serving with Federal Medical Centre Jabi when we went for this medical outreach in our church. So when he saw the girl, he told us to bring the girl to Federal Medical Centre. I think that was where he was serving then. That was when they now told us that this is her problem. Then she was around one or two years. Since then they said she needs surgery but we said we don't have the money so she has been permanently treatment since then to manage the condition."
The parents are appealing to those willing to help to send financial assistance to this account: 0010934915, Ankar Atim John, Jaiz Bank. The family can be contacted on 0706 575 0165 and 0803 650 4176.
What is tetralogy of fallout?According to Mayo Clinic:
"Tetralogy of Fallot is a rare condition caused by a combination of four heart defects that are present at birth (congenital). These defects, which affect the structure of the heart, cause oxygen-poor blood to flow out of the heart and to the rest of the body. Infants and children with tetralogy of Fallot usually have blue-tinged skin because their blood doesn't carry enough oxygen."
Missing baby found alive
In a related story, Legit.Ng reported that a missing child was found where he was dumped by the lady who stole him.
Chinedu was abducted from his mother's hair-dressing salon by a lady who was said to have come there to learn work.
The baby's father, Chikezie Chuks, confirmed to Legit.Ng in a telephone chat that his child has been found in good health.
Source: Legit.Ng
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