Statistics from Altmetric.com
The schematic of a family tree shows the facial appearance of three women (fig 1). The woman in panel A is in her mid 50s and her two daughters (panels B and C) are both in their 30s. All three women are well and in full time employment. On examination the woman shown in panel A has a soft systolic murmur in the pulmonary area. She has a past history of heart valve surgery performed at the age of 19 years and correction of unilateral ptosis as a child. The woman shown in panel B also has a soft systolic murmur at the upper left sternal edge. She has a daughter (D) who is well and of normal phenotype. The woman in panel C has a normal cardiovascular examination. All three women are just under 5 feet (1.5 m) in height.
What is the likely unifying …