Table 2 Description of the clinical and symptomatic characteristics of the patients with BH and CS.

1

Man

30

House painter by occupation. At the age of 28 he began to have dyspnea and chest tightness. He was evaluated by a cardiologist for recurrent oppressive chest pain, and was sent for evaluation to our center. On admission, at 29 years of age, he reported chest tightness. The echocardiographic study showed that he had aortic insufficiency, dilated left cavities, and decreased systolic function. The computed tomography also found severe destroxone convex scoliosis, aneurysm in the aortic root and ascending aorta. At the age of 30, he underwent Bentall and De Bono surgery. He was evaluated for suspected MFS; the only positive Ghent criterion was aortic dilation. He is currently alive, with 9 years of evolution. LVEF of 58%.

2

Man

66

A farmer, who began to have dyspnea when he was 53 years old and sought medical attention 6 years later. He was found to have a marfanoid habitus and aortic insufficiency attributed to aortic dilatation. A CT scan showed dilatation of the aortic root. The sinuses of Valsalva of 52 mm and an abdominal aortic aneurysm of 33 mm. He only met one of the Ghent criteria (aortic dilatation) and only met 6 on the systemic score. He had no other antecedents. His clinical characteristics showed a deep high-arched epicanthus palate, wrinkled ears, severe scoliosis and pectus carinatum. He underwent surgery using the Bentall and De bono technique. He is currently 66 years old and is stable. LVEF 62%.

3

Man

36

A financial stockbroker who practices at Parco. At the age of 25, on a trip to Israel, he presented acute abdominal pain that radiated to the pelvic cavity. A CT scan showed an abdominal aneurysm, that was treated with an endoprosthesis. He was evaluated for suspected MFS. The only relevant history was the death of his mother due to aortic rupture, but she died without a diagnosis. The patient only met one Ghent criterion (aortic dilatation) and was positive for mutation in the FBN-2 gene. The patient’s clinical data included epicanthus, elf ears, CCA in the hands and feet, and a diagnosis of BH syndrome was concluded. Six years later, he presented a right femoral iliac dissection that was treated with an endoprosthesis. It was complicated by compartment syndrome treated with fasciotomy and finally had to be resolved with supracondylar amputation. Currently, he is stable. LVEF 64% without aortic dilatation in the thorax.

1

Man

Foreign farmer with no significant degenerative or cardiovascular history in 2014. At the age of 72 years, he began to have intense dominant pain, with straining and tenesmus. An ultrasound was performed in a private hospital, which showed an abdominal aneurysm. He was referred to our Institute and a CT scan was performed, which showed a ruptured infrarenal abdominal aneurysm with hemoperitoneum (Crawford-IV). Emergency surgery was performed. An 18 × 30 mm aortic graft was placed. The patient is alive and has a postoperative evolution of 10 years and two months.

2

Man

Foreign farmer with a history of arterial hypertension of 10 years of evolution and dyslipidemia, alcoholism and positive smoking. His condition began at the age of 52. In 2015, after his work- day, he had intense precordial pain 7/10. In his place of origin, they performed a computed tomography that showed aortic dilatation and dissection. He was sent to our Institute and the MRI showed aortic dissection Stanford IIIB De DeBakey. Aortic dilatation of the descending thoracic abdominal aorta of 75 mm. The left ventricle showed concentric hypertrophy. Surgery was performed with aortic-thoracic abdominal replacement and revascularization of abdominal trunks. He died 24 h later with refractory metabolic acidosis and acute kidney injury III.

3

Woman

Woman with housework occupation. In 2011 at the age of 40 she had dyspnea and was studied by a cardiologist who diagnosed her with significant aortic insufficiency and proposed aortic valve replacement. However, the patient postponed the surgery. In 2016 the dyspnea had increased, she was found to have severe aortic insufficiency and a computed tomography found a bivalve aorta and dilation of the ascending aorta. Bentall and Bono surgery was performed. Current surgical survival is of 8 years and 4 months.

4

Woman

Woman with housework occupation, with body mass index of 60, ischemic heart disease, tri-valvular disease. In 2014, angioplasty in right coronary artery was performed and in 2017 she presented aortic stenosis, AVR with mechanical prosthesis St Jude Masters HP 21, LVEF 52%. However, in 2024 she presented asymptomatic LVEF 58%. Also presented diabetes mellitus as a comorbidity.

5

Man

Man with a body mass index of 37. In 2018, he was sent to our Institute presenting an ascending aortic aneurysm with aortic insufficiency, 4-cavity dilatation eccentric hypertrophy LV, severe mild mitral insufficiency, PAP 74 mmHg, surgery AVR, LVEF 44%. In 2019, gout was present, asymptomatic cardiovascular LVEF 50%, systolic dysfunction GLS 14.5. He also presented diabetes mellitus, arterial hypertension, dyslipidemia and hyperuricemia such as comorbidities and a positive smoking.

6

Man

Man with body mass index of 62 that presented ventricular dysfunction, severe aortic and mitral insufficiency, generalized hypokinesia, LVEF 30%. In 2014, he underwent surgery due to aortic dissection, Stanford A, DeBakey 1 plus severe tricuspid regurgitation and mechanical AVR St. Jude. He also has some comorbidities such as hypertension, and a positive smoking habit.