You are seeing a 24-year-old man (A) referred by his GP as he is concerned about his risk of Fabry disease which runs in his family, as shown in the pedigree in Figure below
What is his risk of having the condition?
Fabry disease is an X-linked condition. Therefore it will not be passed on from a father to his son (as he will receive the Y chromosome from his father).
You are looking after a 38-year-old man on the ward who was admitted with a STEMI and treated with PCI. His total cholesterol has been found to be 11.8 mmol/L with LDL 7.3 mmol/L, and he has corneal arcus, tendon xanthomata, and a paternal family history of premature cardiovascular disease.
What is the most likely causative gene?
The clinical scenario is typical of familial hypercholesterolaemia. Although PCSK9 and APOB are causes, the most common cause is mutations in the low-density lipoprotein receptor. Sterol 27-hydroxylase causes cerebrotendinous xanthomatosis, and the low-density lipoprotein receptor adaptor protein 1 causes recessive hypercholesterolaemia.
You are seeing a 28-year-old man in clinic. He has long QT sydrome due to a mutation in the KCNH2 gene. He has two sons and a daughter. One son and his daughter have been tested and found to have the same mutation as him.
What is the chance that his younger son also has this mutation?
He is affected with a dominantly inherited condition. Therefore there is 1 in 2 chance for each child.
You are referred a 28-year-old man following a private medical assessment which included echocardiography. This is reported as showing increased trabeculation.
Which one of the following would not be associated with this being a pathological finding?
The right ventricle is a common site for trabeculations occurring as a normal variant. All the other findings would raise concern that the trabeculations might represent pathological non-compaction.
You are reviewing a 17-year-old girl who has been transferred from the paediatric service. She had pulmonary stenosis treated in infancy. She has learning difficulties and facial dysmorphism.
Which one of the following is not in the differential diagnosis?
Holt–Oram syndrome causes septal defects, AV node disease, and radial ray abnormalities, but not pulmonary stenosis. In addition, it is not associated with learning difficulties.
Click to expand