Pierre Robin sequence with tetralogy of Fallot: An unusual finding

PubMed, 2008

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease, generally treated with total correction within the first two years of life. Occasionally, some unoperated cases can reach older ages. A 68-year-old woman with diabetes mellitus presented with swelling in legs and abdomen, weakness, exertional dyspnea, and orthopnea. On physical examination, she had mild cyanosis with clubbing. Her blood pressure was 110/60 mmHg and pulse rate was 79 beat/min. She had a systolic ejection murmur and bilateral rales on basal lung areas. Massive edema was noted in both lower limbs. Electrocardiography showed atrial fibrillation with normal ventricular response. Chest radiography showed an increased cardiothoracic ratio and bilateral minimal pleural effusion. Echocardiography showed biatrial dilatation (right atrium 62 mm, left atrium 49 mm) and thickening of left ventricular walls. There was right ventricular hypertrophy with decreased systolic function. A very large ventricular septal defect and severe pulmonary stenosis were noted. The patient did not accept any interventional procedure. To our knowledge, this is the oldest unoperated TOF case reported from our country.

Cureus, 2020

Tetralogy of Fallot (ToF) is considered the most frequent cyanotic congenital heart abnormality with a low adulthood survival rate if kept untreated. The majority of cases are symptomatic during infancy and mandate early treatment. Few instances of survival to asymptomatic middle-age patients have been reported, and they are decreasing due to early detection. We reported a case of a middle-aged man who was asymptomatic during his life and recently diagnosed with ToF. The patient underwent surgical repair with excellent outcomes. The case represents the possibility of diagnosing such cases in a relatively old patient despite medical development and advances.

Electronic Journal of General Medicine, 2010

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. This report describes the case of a fifty-one year old man who presents with an exertional dyspnea and polycythemia. Echocardiography showed perimembranous ventricular septal defect, hypertrophy of the right ventricle, overriding of the aorta and stenosis of the right ventricular outflow tract.

Circulation, 2017

A 59-year-old man presented to our hospital reporting 3 months of exertional dyspnea, ortopnea, paroxysmal nocturnal dyspnea, and lower leg edema. On physical examination, he had jugular venous distention, bibasilar rales, large tender liver, and peripheral edema. On cardiac auscultation, he had a regular heart rate with premature ventricular contractions, systolic ejection grade III/VI cardiac murmur in pulmonic area, and louder P 2 than A 2. Chest x-ray showed cardiac enlargement, and an ECG (Figure 1) was recorded; because of premature heartbeats on admission, a 24-hour Holter ECG was obtained (Figure 2). On the basis of ECG findings, what is the rhythm of the patient and what is the structural abnormality? Please turn the page to read the diagnosis.

Journal of the American Society of Echocardiography, 2000

American Heart Journal, 1973

Care history B. 2. W., a 37-year-old Romanian born Israeli, entered Michael Reese Hospital for a fifth and fmal admission on Nov. 2, 1970, for shortness of breath of 24 to 36 hours' duration. The patient's known medical history dates back to 1950 when at age 17 he was admitted to an Israeli hospital for work-up of "murmur and pathological ECG." In 19.54 at the age of 21, and possibly before, he had experienced precordial pain typical of angina pectoris which was relieved by nitroglycerin. Examination in 1967 in Israel revealed the patient to be obese and without signs of congestive heart failure. Cardiac examination revealed an accentuated first sound at the apex, normal A* and Pi, and a soft systolic murmur at the base. Blood pressure was 120/80 mm. Hg, and the pulse was 87 and regular. Electrocardiogram (ECG) was abnormal but nonspecific. The x-ray showed an enlarged left ventricle. Laboratory values were within normal limits except for a cholesterol of 285 mg. per 100 ml. and total lipids of 741 mg. per 100 ml. Cardiac catheterization and angiogram were proposed but the patient refused. The patient's first Michael Reese Hospital admission was from Jan. 9, 1968, to Jan. 20, 1968, for a seven day history of "fever, chills, productive cough, blood tinged greenish sputa, weakness, chest pain, myalgia, and arthralgia." The chest pain was different from his usual angina. It was much more severe, radiated to the left shoulder, and was associated with weakness, dizziness, and diaphoresis; it was partially relieved by sitting up. At that time the patient gave a history of dyspnea on exertion for many years and stated that he became "cyanotic" with exertion at times. Both his parents and two siblings were alive and well. He did not smoke. The vital signs were within normal limits and the liver edge was palpable three finger breadths below the right costal margin. The ECG showed regular sinus rhythm with premature ventricular contraction and an intraventricular conduction defect, left ventricular hypertrophy, and left atria1 enlargement. Chest x-ray was clear, but lung scan showed impaired perfusion at both bases posteriorly. The patient was anticoagulated and placed on digitalis and nitroglycerin p.r.n. The chest pain decreased. The second Michael Reese Hospital admission was Aug. 14, 1968, to Aug. 21, 1968, with the chief complaint of shortness of breath and coughing up of small amounts of blood. Several months before admission the patient had developed increasing shortness of breath to the point of near immobilization. The physical examination was unremarkable, except for cardiomegaly, decreased breath sounds, and dry riles at the left base. Blood pressure was 125/70. Laboratory data were normal except for a blood urea nitrogen of 25 mg. per 100 ml. and a creatinine of 1.2 mg. per 100 ml. The ECG was as before. Cardiac fluoroscopy showed an increase in transverse diameter. Pulsation of the heart was normal and only left ventricular enlargement was noted. The lung fields were clear. The patient improved with bed rest, digoxin, furosemide, and warfarin. The patient was admitted for a third time from Aug. 20, 1970, to Aug. 22, 1970, stating that he felt dizzy and thought his heart rate had increased suddenly. Soon thereafter he developed chest pain lasting for approximately 15 minutes which progressed to a syncopal episode of about five minutes' duration. When he awoke he was intensely diaphoretie, nauseated, and had mild chest pain radiating to the left arm. The pain decreased with nitroglycerin. His blood pressure was lSO/QO, pulse 90 and regular, respirations 16. The physical examination was unrevealing except for his obesity, a questionable SI, and a liver edge felt 2 cm. below the right costal margin. His fundi showed minimal arteriovenous nicking. There was no murmur. His heart sounds were distant. The ECG was unchanged. Serial transaminase and lactic dehydrogenase determinations were normal for three days. The patient re-From the Cardiovascular Institute of the Department of Medicine,

BMJ Case Reports, 2014

A 17-year-old male patient presented with cyanosis, repeated squatting since childhood and haemoptysis since the past 1 month. He had central cyanosis with clubbing. Cardiovasular examination revealed ejection systolic murmur in the pulmonary area with single S2. ECG showed right ventricular hypertrophy (RVH) with right atrial enlargement and first-degree heart block. Two-dimensional echo showed ventricular septal defect, overriding aorta, RVH, right ventricular enlargement (RVE) and right atrial enlargement with infundibular and valvular pulmonary stenosis and 1.9 cm ostium secondum atrial septal defect. There was no evidence of atrioventricular canal defect. The patient was diagnosed with pentology of Fallots. Follow-up ECG showed complete heart block (CHB) that again reverted to first-degree heart block. A diagnosis of pentology of Fallot with intermittent CHB was made with an awake heart rate of 50/min. This case report shows association of CHB with tetralogy of Fallot. BACKGROUND

Pathology and laboratory medicine, 2021

In TOF the morphological abnormalities are-overriding of aorta, pulmonary obstruction, right ventricular hypertrophy and ventricular septal defect. Normally it is nonrestrictive means free communications between the ventricles but sometimes very rarely it can become restrictive when the tricuspid valve restrict the flow across the ventricular septal defect. Among children with CHD 10% of them report TOF. Chest radiographs usually show a normal-size heart silhouette, with an upturned apex and a concave main pulmonary artery segment, commonly known as "boot-shaped" heart. On the electrocardiogram, it is common to see signs of right atrial enlargement and right ventricular hypertrophy showing right axis deviation, prominent R waves anteriorly and S waves posteriorly, upright T wave in V1 (abnormal after 7 days of life up to 10 years of age) and a qR pattern in the right precordial leads. If the ration between pulmonary artery orifice diameter to aortic orifice diameter is <.3 primary repair is unsuccessful and in that case we must go for shunt surgeries which are palliative procedures till permanent repair can be done. This should add proper assessment of coronary artery origin. This is a case of adult tetralogy of fallot (TOF) coming to outpatient department of cardiology with complaints of chest discomfort and sometimes cyanotic spells. Age of the patient is 42 years male. Doppler Echocardiography was done. In the image overriding of aorta was found around 20% over interventricular septum. Left sided aortic arch was detected along with ventricular septal defect (VSD) with size 14 mm. Size of pulmonary orifice 10 mm and that of aortic orifice was 22 mm. Hence pulmonary artery orifice was found to get stenosed.

CHEST Journal, 2013

A n 84-year-old man presented to the ED with acuteonset shortness of breath. He denied cough, sputum production, hemoptysis, wheezing, pleuritic chest pain, fever, leg pain or swelling. He was active and in his normal state of health until the onset of this acute episode of dyspnea. He did not have a history of a recent hospitalization, surgery, or long travel. He denied chronic respiratory symptoms before the current episode. His medical history was unremarkable except for hypothyroidism for which he was taking levothyroxine. The patient had no history of pulmonary TB or fungal infection. He had a 5-pack-year smoking history and quit before age 40 years. He worked as a dental technician for. 40 years. Physical Examination Findings Physical examination revealed a cachectic elderly man in mild respiratory distress. His BP was 111/80 mm Hg; heart rate, 81/min; respiratory rate, 19/min; and pulse oximetry, 98% saturation on 2 L/min oxygen through nasal cannula. He had no clubbing, cyanosis, or lymphadenopathy. Chest auscultation was normal and revealed no adventitious sounds. The rest of his clinical examination was unremarkable. Diagnostic Studies Laboratory investigation revealed a normal blood cell count and basic chemistry panel. Troponin levels were elevated to 0.23 m g/L, and D-dimer was. 20.0 m g/mL fi brinogen equivalent units. ECG showed normal sinus rhythm with right bundle branch block. The admission chest radiograph is shown in Figure 1. CT scan and pulmonary angiogram were performed; representative sections are shown in Figure 2. Three sputum samples were negative for acid-fast bacillus. Tuberculin skin test was negative.

Pediatric cardiology, 2010

We present a large single-center series (&gt;2200 cases) operated for Tetralogy of Fallot (TOF). We analyzed the incidence of associated unusual and uncommonly described cardiac lesions and their diagnostic and therapeutic implications in TOF patients. This retrospective study was conducted by reviewing records of patients operated for TOF at a large tertiary care pediatric cardiac centre. From 2002 to 2008, a total of 2235 cases of TOF were evaluated with echocardiography, cardiac catheterization, and/or cardiac computed tomography followed by cardiac surgery. Known and well-described associations were excluded from the study. Unusual associations were tabulated. Several unusual associations having an incidence &gt;0.1% were detected. These included subaortic membrane (1%), pulmonary venous abnormalities (0.5%), small left ventricle (0.5%), interrupted inferior vena cava (0.5%), mitral valve abnormalities (0.4%), hemitruncus (0.4%), tricuspid valve abnormalities (0.4%), biventricul...