Differential Diagnosis

The patient's presentation suggests a complex condition involving cardiovascular, gynecological, and orthopedic aspects. The key findings include high blood pressure, short stature, broad chest, widely spaced nipples, weak femoral pulses, and crampy lower limb pain on short walking. These symptoms point towards a condition that affects the aorta and possibly has genetic or developmental origins.

• Single Most Likely Diagnosis

  • Coarctation of the Aorta: This condition is characterized by the narrowing of the aortic isthmus, which is the part of the aorta that supplies blood to the lower part of the body. It fits with the patient's high blood pressure in the arms, weak femoral pulses, and lower limb pain on exertion. Coarctation of the aorta can also be associated with Turner syndrome, which could explain the patient's short stature, broad chest, and widely spaced nipples, as well as her amenorrhea and infertility.

• Other Likely Diagnoses

  • Turner Syndrome: While often associated with coarctation of the aorta, Turner syndrome itself is a genetic condition in females characterized by the partial or complete absence of one X chromosome. It leads to short stature, ovarian dysgenesis (resulting in infertility and amenorrhea), and other physical features such as a broad chest and widely spaced nipples.
  • Hypertensive Heart Disease: Given the patient's very high blood pressure, there could be secondary effects on the heart, including left ventricular hypertrophy.

• Do Not Miss Diagnoses

  • Aortic Dissection: Although less likely given the patient's age and the nature of her symptoms, aortic dissection is a life-threatening condition that requires immediate attention. It could present with severe pain and differences in blood pressure between limbs.
  • Takayasu Arteritis: A large vessel vasculitis that can cause narrowing or dilation of the major arteries, including the aorta, and could explain the patient's symptoms, including high blood pressure and weak pulses in the lower limbs.

• Rare Diagnoses

  • Williams Syndrome: A genetic disorder characterized by a distinctive "elfin" face, intellectual disability, and a friendly, outgoing personality. It can also involve cardiovascular abnormalities, including supravalvar aortic stenosis.
  • Noonan Syndrome: Another genetic disorder that can affect the heart, similar to Turner syndrome but can occur in both males and females. It might present with short stature, heart defects, and developmental delays.

Given the options provided:

• A: True, coarctation of the aorta is more common in males.
• B: True, the patient's cardiac defect (coarctation of the aorta) is of post-ductal type.
• C: True, in coarctation of the aorta, blood pressure in the lower limbs is typically lower than in the upper limbs.
• D: True, a mid-diastolic murmur heard best on the back can be characteristic of coarctation of the aorta, due to the flow across the narrowed segment.
• E: False, while magnetic resonance angiography (MRA) of the aorta or other imaging might be necessary for diagnosis, MRA of the brain is not mandatory unless there are specific neurological symptoms or concerns about cerebral vascular involvement.