Situs inversus totalis is a very rare anomaly. Even more, cases of situs inversus totalis plus hypertrophic osteoarthropathy. A woman presented with cyanosis, clubbing of fingers and distal edema. Chest examination revealed heart sounds at the right side and a heart murmur. Abdominal examination showed liver dullness in the left side. The X-rays showed dextrocardia and liver in the left side. The Upper digestive barium test showed the stomach in the right side, the barium enema showed caecum on the left. Treatment for heart failure improved the patient’s condition and she remained well. When she became pregnant, developed heart failure again and required admission. She was compensated and continued her pregnancy. 3 years later she developed heart and respiratory refractory failure, was admitted again and after few days she died. We report this case of situs inversus totalis in association with hypertrophic osteoarthropathy because of the rarity of this anomaly.
Situs inversus totalis is a congenital anomaly occurring in 1 in 10,000 - 50,000 live births [
The systematic search of the literature did not disclose cases of situs inversus totalis plus hypertrophic osteoarthropathy. This case probably is the first report. In view of this, we herewith present this case.
A merchant, native ethnicity, 22-year-old woman was referred as outpatient to our hospital for assessment of her heart condition. She had a long-lasting history, around 10 years, of increased volume in up and lower limbs with intermittent pain, cyanosis, clubbing of fingers and toes, distal edema and fatigue. Prior history did not disclose features suggesting malnutrition, diabetes, hypertension, abdominal surgery or trauma or chronic medication. The patient neither smoked nor ingested alcoholic beverages. On physical examination, body temperature was 37˚C, pulse rate 78 bpm and blood pressure 120/80 mm Hg. There was intense peripheral cyanosis; the apex beat was in the right fifth intercostals space, midclavicular line. Heart sounds were abnormal, with a holosystolic murmur (grade 4/4). Examination of the respiratory system did not reveal abnormal, in the abdomen liver dullness was on the left side. There was pitting edema especially at the lower extremities, which were also noted to be remarkably large. Clubbing of the fingers was evident in all limbs (
The laboratory findings were: hematocrit of 45%, hemoglobin of 14 g/dl, white blood cells of 8500/mm3, blood urea of 12 mg/dL, creatinine of 0.7 mg/dL and urine examination was normal.
Other findings were: Dextrocardia and cardiomegaly seen on chest X-ray (
Based in the clinic and imagenology diagnostic, we initiated treatment with furosemide, enalaprile and digoxine to control the heart failure; joints pain was attenuated by ibuprofen. The patient became stabilized and
after a few days she was discharged, remaining well and periodically controlled as outpatient.
Four year later the patient became pregnant, she was controlled more frequently, remaining stabilized until the second trimester of pregnancy, when presented heart failure again and was admitted again for treatment. After 33 weeks gestation she delivered a healthy female newborn by cesarean section, without complications. The patient continued her daily life uneventfully, with periodical medical controls; 3 years later and without new events taking place, she developed heart failure again that did not respond to treatment and died a few days later.
At all times the possibilities of treatment were limited due to the poor economic conditions of the patient’s
family, who could not afford surgical or other options.
Occasionally some humans (1/10,000 - 500,000 live births) have a congenital anomaly call situs inversus [
Pierre-Marie-Bamberger syndrome or else hypertrophic pulmonary osteoarthropathy (HPOA) constitutes a clinical syndrome characterized by clubbing of fingers and toes, arthritis and periostosis of the long distal bones. The lesions are usually bilateral and symmetric causing swelling and extreme pain of the affected limbs. It may occur as a primary condition, which is familial and affects mainly males [
riovenous shunt like lung carcinoma, mesothelioma, pulmonary tuberculosis, congenital cyanotic heart disease, hepatic and colorectal carcinoma, inflammatory bowel disease, cirrhosis, pulmonary fibrosis and empyema [7, 8].
We didn’t had the surgical option in order to treat the congenital heart diseases, first because the patient and her family didn’t had the economic sufficiency to pay this kind to surgery, secondly the capacity to treat and controlled this kind of cases probably is limited in Bolivia.
The medical treatment only attenuate the symptoms, but not was the cure, but we tried to give her the best
quality of life, even more she can had a baby in this situation.
This case of situs inversus totalis is very rare, furthermore if we thing in the other multiples hearth abnormalities she had and the kind of presentation as HPOA. As far as known it probably is the first case report, at least in Bolivia.