Introduction: Children with genetic syndrome asso-ciated with congenital aorthopathy and metabolic syndrome require lifelong follow-up regardless of the initial treatment strategy (medical, interventional or surgical) consisting of clinical evaluation, re-evaluati-on of the patient’s medicinal therapies and treatment objectives, as well as aortic imaging, being essential to reduce overall cardiometabolic risk and improve long-term prognosis. Studying the contribution of metabolic syndrome and congenital aorthopathy to global cardi-ometabolic risk in Holt-Oram syndrome.
Methods: We report the case of a 16-year-old male admitted to the Cardiology Clinic for clinic-paraclini-cal re-evaluation being supervised by the cardiologist, cardiac surgeon and orthopedist from the first days of life, having a personal history of pathological surgery in the first year of life for correction of cardiac defect and elongation of upper limbs through the Ilizarov apparatus.
Results: Clinical data in the bone system: bone hypo-plasia in the upper limbs (radius, carpal bones and ten-dons) in the vertebral column – thoracic scoliosis, in the cardiovascular system: at percussion – the area of absolute matism – moving to left, at palpation – apexian shock – V / V space, on the left medioclavicular line, at auscultation – rhythmic heartbeats, bradycardic, systolic blast at all auscultation points with irradiati-on and maximum intensity in the interscapular regi-on. Anthropometric parameters: mass – 74 kg, height 166 cm, BMI – 26.9 (94th percentile), Z score of BMI – 1.54, AC – 100 cm (90th percentile). Hemodynamic parameters: ventricular rate – 57 b/min; AHT, LH – 130/80 mm Hg, AHT, RH – 135/80 mm Hg, AHT IL-100/70 mm Hg, palpable pulse in the bilateral femoral arteries and diminished distally bilaterally. Other organ systems – no particularities. From paraclinical data: li-pid spectrum indices: CT – 3.9 mmol / l, Tr – 1.92 mmol / l, HDLc – 0.96, glucose index: basal glycaemia – 4.2 mcmol / l; Dopller color echocardiography – dilated LV cavity, left ventricular wall thickening, left ventricular pump function retained. Congenital heart malforma-tion, Co Ao resection with anastomosis T-T, residual PG – 46 mmHg. According to the echocardiographic data and the anthropomentric parameters were calcu-lated: LV Mass – 248.8 g (95th percentile); LVMI– 56.6 g / m2.7 (95th percentile); Score Z – 2.1; LVPWd – 0.46, concentric left ventricular hypertrophy being confir-med; Aorta: the Z score at the aorta ring level – 1.34, at the Ao ascending level 3.64, confirming dilatation of the ascending aorta diameter. Adjacent paraclinical ex-plorations – no particularities.
Conclusions: Particularity of the case: presence of genetic syndrome with aortic affectation, surgery – in the first months of life – anastomosis TT, but presence of residual GP, presence of cardiac remodeling, on the one hand recoarctation, on the other hand the presen-ce of excess fat, the need of cardiac surgeon evaluation to determine the necessity and timing of surgery, the need to apply and continue supportive cardiac therapy, the need for endocrinologist assessment, diet setting, activity aiming at reducing body weight and reducing pathological overload of the heart.