Complex heart congenital malformation associated with adrenal incidentalom-manifestation in adulthood

Introduction: Transposition of the great arteries is the 2nd most frequent cyanotic congenital heart disease (CHD), with a prevalence of 5-7% of all CHD. The mortality of these patients is 70% in the first year. If it is associated with other congenital malformations which create a communication between the 2 circulatory systems, such as VSD, the survival rate can be 50% in the first 3 years.
Case presentation: We report the case of a 25 years old patient, diagnosed at birth with transposition of great arteries and VSD, with Eisenmenger syndrome for 10 years, secondary polyglobulia, undergoing treatment with Bosentan and Sildenafil, presenting for sever coughing, haemoptysis, dyspnoea, oral cyanosis, headaches, vertigo and myalgia.
The clinical examination revealed cyanosis, digital clubbing, congestive sclerae, sistolo-diastolic murmur projected onto entire precordium, accentuation of the 2nd heart sound. The blood work showed polyglobulia (Hb 20 mg/dL, Ht 69%), secondary thrombocytopenia, iron deficiency anemia. ECG: sinus rhythm, 100 bpm, QRS axis -150 degrees, prominent P wave, 1st degree AV block, major RBBB, RVH. The echocardiography revealed the VSD with bidirectional shunt, the trans-position of the great vessels, preserved systolic function of LV and RV, important tricuspid regurgitation (the septal cusp of the valve, floats in the LV through the defect, during diastole), severe secondary pulmonary hypertension (sPAP 113 mmHg, mPAP 70 mmHg).
The abdominal CT recorded an enlargement of 3,5 cm of the suprarenal gland, with delimitation of hypodense necrosis areas.
Considering the symptomatology and the polyglobulia we realized a phlebotomy, with the evacuation of 400 mL of blood, after which the red cell and platelets values normalized. The ACTH, cortisol morning/night, free urinary cortisol and metanephrine values were normal, we sought an adrenal incidentaloma, which requires periodic follow-up for possible complications, at this time, surgery presents important perioperative risks. Right heart catheterization reveals pulmonary hypertension with increased pressures (mPAP 114 mmHg, sPAP 173 mmHg), with increased pulmonary vascular resistance (PVR 40uW, 60uWi and a PVR/ SVR of 1.4). The patient will continue the treatment with Bosentan and Sildenafil, with the recommendation of therapy with prostacyclins/prostacyclin mimic therapy, in a specialized medical center.
Conclusions: T he survival of the patient into adult-hood, long exceeding the life expectancy associated with the complex congenital heart pathology, was possible due to the communication between the 2 circulatory systems at the level of the ventricular defect. The development of pulmonary hypertension, due to the natural evolution of the disease, makes impossible the surgical repair of the malformation, the only therapeutic approach being vasodilatatory therapy. Also, the association of the adrenal incidentaloma, with an evolving potential, imposes the formation of a multi-disciplinary team (cardiologist, pulmonologist, endo-crinologist, radiologist anesthesiologist, and surgeon) to follow the evolution of the patient closely.

ISSN – online: 2734 – 6382
ISSN-L 1220-658X
ISSN – print: 1220-658X
The Romanian Journal of Cardiology is indexed by:
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CODE: 379
CME Credits: 10 (Romanian College of Physicians)