Case Of 75-Year-Old Survivor With Unrepaired Tetralogy Of Fallot

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The New England Journal of Medicine

A 75-year-old man presented to the cardiology clinic with complaints of exertional dyspnea, clubbing of the fingers and cyanosis. He was diagnosed with congenital heart disease at birth, however, the diagnosis of TOF was not until his adolescence. He was asymptomatic for most of his childhood and only experienced cyanosis and dyspnea when physically overworked. Although, he became symptomatic in his 50s with cyanosis and progressive dyspnea on exertion.

Chest radiograph showing a prominent RV, concavity in the main pulmonary artery area and a lifted apex with diminished pulmonary vascular markings. MPA, main pulmonary artery; RV, right ventricle.

He was first assessed at the hospital at 70 years of age, when he was brought in for aggravated chronic heart failure because of new onset atrial fibrillation. At presentation, he appeared cachectic and fatigued, however, was alert. He clubbing of the fingers and toes, central cyanosis, pectus carinatum and mild kyphosis. His pulse was 77 beats per minute and respiratory rate 22 breaths per minute. Blood pressure was 100/66 mm Hg and oxygen saturation 88% while the patient was breathing 2 L of oxygen via a nasal cannula. The partial pressure of oxygen and carbon dioxide was 53 mm Hg and 30 mm Hg.

Electrocardiography of the patient showed incomplete right bundle branch block with QRS duration of 100 m.s, biventricular hypertrophy, right axis deviation and atrial fibrillation. In addition, subpulmonic stenosis, right ventricular hypertrophy and aorta overriding a large ventricular septal defect. The findings were consistent with the diagnosis of tetralogy of fallot.

Parasternal long-axis echocardiographic view, showing ascending aorta overriding the interventricular septum. LV, left ventricle; LA, left atrium; IVS, interventricular septum; RV, right ventricle; AO, ascending aorta.
Parasternal short-axis echocardiographic view, showing the four aortic cusps.
Parasternal long-axis echocardiogram with color flow Doppler imaging, showing severe aortic regurgitation, with the regurgitant jet directed into the right ventricle. IVS, interventricular septum; RV, right ventricle; AO, ascending aorta; AR, aortic regurgitation.

Tetralogy of fallot is a rare congenital abnormality that is caused by a combination of four heart defects. The defects affect the structure of the heart and cause oxygen-poor blood to flow from the heart to the rest of the body. Children with this defect often have blue-tinged skin because the blood doesn’t carry enough oxygen. Depending on the severity of symptoms, the condition is often diagnosed during infancy or soon after. However, in this case, it was not detected until later in life.

The patient refused any surgical treatment or invasive procedures because of his religious beliefs. Therefore, he was treated with acenocoumaral, spironolactone, digoxin and furosemide. He was discharged from the hospital after a week.

References

Stanescu, C. M., & Branidou, K. (2008). A case of 75-year-old survivor of unrepaired tetralogy of Fallot and quadricuspid aortic valve. European Journal of Echocardiography9(1), 167-170.

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Dr. Aiman Shahab is a dentist with a bachelor’s degree from Dow University of Health Sciences. She is an experienced freelance writer with a demonstrated history of working in the health industry. Skilled in general dentistry, she is currently working as an associate dentist at a private dental clinic in Karachi, freelance content writer and as a part time science instructor with Little Medical School. She has also been an ambassador for PDC in the past from the year 2016 – 2018, and her responsibilities included acting as a representative and volunteer for PDC with an intention to make the dental community of Pakistan more connected and to work for benefiting the underprivileged. When she’s not working, you’ll either find her reading or aimlessly walking around for the sake of exploring. Her future plans include getting a master’s degree in maxillofacial and oral surgery, settled in a metropolitan city of North America.

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