| Day . | Events . |
|---|---|
| 1 | Patient referred due to polycythaemia (Hb 20.7 g/dL). Physical exam shows clubbing and low resting saturation (87%) is found. Echocardiography shows no structural heart disease. Chest radiography reveals multiple nodular opacities |
| 4 | CT scan shows multiple AVMs connecting pulmonary arteries and veins, no AVMs found in the liver |
| 12 | Ambulatory follow-up to discuss results with patient, blood sampling for genetic testing. Brain magnetic resonance imaging reveals multiple vasculo-ischaemic lesions in frontal and cerebellar lobes, no intracranial AVMs detected |
| 89 | Percutaneous closure of four pulmonary AVMs |
| 193 | Follow-up angiography CT shows no remaining shunting, and the patient’s resting oxygen saturation improved to 95%, while his haemoglobin level lowered to 17.7 g/dL. Whole exome sequencing identified a specific mutation (c.1411C > T, p.Gln471*) in the ENG gene, confirming the definite diagnosis of HHT |
| Day . | Events . |
|---|---|
| 1 | Patient referred due to polycythaemia (Hb 20.7 g/dL). Physical exam shows clubbing and low resting saturation (87%) is found. Echocardiography shows no structural heart disease. Chest radiography reveals multiple nodular opacities |
| 4 | CT scan shows multiple AVMs connecting pulmonary arteries and veins, no AVMs found in the liver |
| 12 | Ambulatory follow-up to discuss results with patient, blood sampling for genetic testing. Brain magnetic resonance imaging reveals multiple vasculo-ischaemic lesions in frontal and cerebellar lobes, no intracranial AVMs detected |
| 89 | Percutaneous closure of four pulmonary AVMs |
| 193 | Follow-up angiography CT shows no remaining shunting, and the patient’s resting oxygen saturation improved to 95%, while his haemoglobin level lowered to 17.7 g/dL. Whole exome sequencing identified a specific mutation (c.1411C > T, p.Gln471*) in the ENG gene, confirming the definite diagnosis of HHT |
| Day . | Events . |
|---|---|
| 1 | Patient referred due to polycythaemia (Hb 20.7 g/dL). Physical exam shows clubbing and low resting saturation (87%) is found. Echocardiography shows no structural heart disease. Chest radiography reveals multiple nodular opacities |
| 4 | CT scan shows multiple AVMs connecting pulmonary arteries and veins, no AVMs found in the liver |
| 12 | Ambulatory follow-up to discuss results with patient, blood sampling for genetic testing. Brain magnetic resonance imaging reveals multiple vasculo-ischaemic lesions in frontal and cerebellar lobes, no intracranial AVMs detected |
| 89 | Percutaneous closure of four pulmonary AVMs |
| 193 | Follow-up angiography CT shows no remaining shunting, and the patient’s resting oxygen saturation improved to 95%, while his haemoglobin level lowered to 17.7 g/dL. Whole exome sequencing identified a specific mutation (c.1411C > T, p.Gln471*) in the ENG gene, confirming the definite diagnosis of HHT |
| Day . | Events . |
|---|---|
| 1 | Patient referred due to polycythaemia (Hb 20.7 g/dL). Physical exam shows clubbing and low resting saturation (87%) is found. Echocardiography shows no structural heart disease. Chest radiography reveals multiple nodular opacities |
| 4 | CT scan shows multiple AVMs connecting pulmonary arteries and veins, no AVMs found in the liver |
| 12 | Ambulatory follow-up to discuss results with patient, blood sampling for genetic testing. Brain magnetic resonance imaging reveals multiple vasculo-ischaemic lesions in frontal and cerebellar lobes, no intracranial AVMs detected |
| 89 | Percutaneous closure of four pulmonary AVMs |
| 193 | Follow-up angiography CT shows no remaining shunting, and the patient’s resting oxygen saturation improved to 95%, while his haemoglobin level lowered to 17.7 g/dL. Whole exome sequencing identified a specific mutation (c.1411C > T, p.Gln471*) in the ENG gene, confirming the definite diagnosis of HHT |
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