A 35 year-old female was referred to Masih Daneshvari Hospital with shortness of breath and ascites. She was a single woman with progressive dyspnea, peripheral edema and abdominal swelling from 6 months ago that was controlled with high dose diuretics. ECG showed atrial fibrillation(AF) rhythm with relatively rapid ventricular response and digoxin and warfarin were prescribed for her. On physical examination, she was a petite 35 year-old female with significant short stature, low weight (133 cm tall, body weight = 21 kg and body surface area = 0.9 m2) and unusual dysmorphic craniofacial features but without mental retardation. After cardiac evaluation including comprehensive trans-thoracic and tissue-Doppler echocardiography, constrictive pericarditis was suggested and further hemodynamic studies confirmed the diagnosis with no significant pulmonary hypertension (Peak PAP = 36 mmHg). Spiral chest CT-scan showed extensive pericardial calcification more frequently in the anterior and inferior aspects of the heart. Moreover, dilated IVC and enlarged liver were noted on the CT scan. Considering her characteristic phenotype (short stature, triangular face, peculiar high pitched voice, thin extremities and hepatomegaly) and pericardial constriction, she fulfilled some of the diagnostic criteria of Mulibrey nanism and we decided to do further work-up for her. Skull x-ray showed a J-shaped sella turcica. X ray of the long bones showed slender long bones. Also, small bell shaped thoracic cage with thin ribs and rounded heart shadow were noted on the chest x ray (Figure 1-3).
Ophthalmologic examination revealed patches of diffuse severe chorioretinal atrophy in both retinae.
Her familial history was unremarkable and she was the only member in her family suffering from severe progressive growth failure or nanism. She had primary amenorrhea from puberty and her menstruation was established monthly with hormone-replacement therapy with regular use of Ethinyl estradiol and Medroxyprogestrone. Pelvic ultrasound showed intact uterus and ovaries.
After complete clinical evaluation, she fulfilled most of the diagnostic criteria for Mulibrey nanism syndrome including dysmorphic features (characteristic triangular face with high broad forehead and low nasal bridge, large head relative to stature, thin extremities with proximal relative shortness and narrow shoulder), high pitched voice, severe growth failure, characteristic radiological findings (low, shallow or J-shaped sella turcica), hepatomegaly and retinal abnormalities.
She was scheduled for total pericardiectomy. After sternotomy and opening up the pericardium, a thick parietal pericardium and especially stony hard visceral pericardium tensely adhered to right ventricle were noted. Total pericardiectomy and decortication of LV were performed for her and samples were sent for pathological analysis. Specimen of pericardium showed fibrohyalinized tissue without granuloma or malignancy. PCR of visceral pericardium was negative for MTB (Mycobacterium tuberculosis) complex. Her post-op course was uneventful and she was discharged on the 7th post-op day continuing digoxin and warfarin due to persistent AF rhythm.
Three months after surgery, she was well with normal sinus rhythm (NSR) on ECG. Echocardiographic examination showed resolution of constrictive physiology with normal LV function and we discontinued warfarin and digoxin.