Tetralogy of fallot and aortic coarctation. A rare association

Abstract

A two-year-old child with tetralogy of Fallot (TF) associated with coarctation of the aorta (CoAo) was referred to our institution for investigation of a cardiac murmur and cyanosis that had existed since the child's first days of life. In the physical examination, arterial hypertension in the upper limbs and reduction of pulses in the lower limbs were detected. The laboratory examinations confirmed the diagnosis of TF and CoAo. The patient underwent surgery for total correction and had a good clinical outcome.Tetralogy of Fallot (TF) is considered the most common cyanotic malformation, with an incidence of 9.7% of all congenital heart disease 1 . It consists of a defect of the ventricular septum, pulmonary stenosis, dextroposition of the aorta, and right ventricular (RV) hypertrophy, which is secondary to its main characteristic, the anterior deviation of the infundibular septum.Coarctation of the aorta (CoAo) is also a common cardiovascular malformation, responsible for 5% to 8% of all congenital heart diseases 2,3 . The classical clinical signs include hypertension in the upper limbs with a difference in pulse and pressure in relation to the lower limbs, and cardiac murmur. The association of these two anomalies is rare. Few cases have been reported in the literature 4,5 ; therefore, this case has special interest. Case reportThe patient is a two-year-old child, born and raised in São Paulo, who was referred to the outpatient care unit of congenital heart diseases of INCOR, so that the cause of a cardiac murmur and cyanosis could be investigated. The child was on 2mg/kg/day of propranolol. The parents also reported that the child experienced dyspnea and frequently squatted during physical exercises.The physical examination revealed the blood pressure (BP) to be 145/70mmHg in the upper limbs and the systolic blood pressure (SBP) to be 70mmHg in the lower limbs, with a reduction of the distal pulses. There was mild precordial bulging with systolic thrill at the third and fourth left intercostal spaces, and an ejecting systolic murmur 3+/4+ along the left sternal border to the left infraclavicular region. There was also well-marked cyanosis of the perioral region and of the nail bed, intensified by crying and physical exercise.The electrocardiogram revealed sinus rhythm with RV overload. The vectorcardiogram also showed RV hypertrophy ( fig. 1). The chest roentgenogram revealed moderate cardiomegaly and reduction of pulmonary vascularity. The hemoglobin level was 16mmHg/dL, the hematocrit value 50%, and the oxygen saturation in room temperature 88%.Two-dimensional echocardiogram confirmed the diagnosis of TF (with infundibular and valvar pulmonary stenosis of significant hemodynamic repercussion and pressure gradient between RV and pulmonary trunk of 75mmHg) and CoAo (local gradient of 23mmHg). Cardiac catheterization was performed revealing the abnormalities of this combination ( fig. 2).

Coarctation of the aorta in the setting of tetralogy of Fallot: an uncommon cause of myocardial dysfunction

“…patients with tetralogy of Fallot or pulmonary atresia with ventricular septal defect is thought to be an exceedingly rare condition, with only 11 cases described in the medical literature. [1][2][3][4][5][6][7][8][9] In fact, the coexistence of these conditions seemingly contradicts many of the foetal haemodynamic theories regarding the development of coarctation. 10 This combination of defects can be quite challenging to diagnose and has resulted in early post-operative mortality in a patient following tetralogy repair.…”