Stress related cardiomyopathy or Takotsubo LV dysfunction has been described in phaeochromocytoma related cardiomyopathy.
16 y female, admitted in A&E on 23 June 2013 with severe epigastric pain, vomiting and dyspnoea. History of episodes of palpitations and exertional syncopal attacks for 2 years, for which she had been investigated. Her symptoms were attributed to panic attacks. There was no known family history of Endocrinopathy. On admission, BP was 184/117 with heart rate 140/min, cold peripheries, R/R 26/min and tender epigastrium. ECG showed sinus tachycardia with T wave changes. Chest X-ray showed mild pulmonary edema. She became more dyspnoeic and referred to ITU for management of possible Phaeo crisis with alpha blockade, then transferred to ward on Phenoxybenzamine 20+30 mg and Propranolol LA 160 mg. Echo revealed known bicuspid aortic valve with mild to moderate impaired LV function on 24th June 2013. CT Abdomen /pelvis revealed 7.0×5.9 cm left adrenal mass with area of necrosis and normal right adrenal. MRI abdomen right adrenal mass 1.9×2.8×1.9 cm and left 6.9×5.0×5.2 cm, heterogeneous with areas of central necrosis MIBG scan showed bilateral phaeochromocytoma, left adrenal with weak uptake and right adrenal with tense uptake. Echocardiography repeated in 4 weeks showed normal LV function.
Considering the possibility of MEN 2, she was screened with thyroid ultrasound, calcium and calcitonin levels which were all normal. She underwent uncomplicated bilateral laproscopic adrenalectomy, commenced on replacement therapy with hydrocortisone 10/5/5 and fludrocortisone 50 μg. She was reviewed by clinical geneticist. Sequence analysis of RET, VHL, SDHB, SDHC, SDHD, SDHAF2, TMEM127 and MAX genes did not detect pathogenic mutation. Repeat MRI neck, thorax abdomen and pelvis did not show any evidence of recurrent disease, no evidence of malignancy.
This is uncommon presentation of phaeochromocytoma in young patient with normal genetics and impaired cardiac function which was reversed with treatment. Acute medical physicians need to be aware of this well described clinical presentation of phaeochromocytoma.
02 Nov 2015 - 04 Nov 2015