Valvular heart disease is a multifactorial disorder. Twin studies may help to better understand both genetic and environmental determinants contributing to the development of valve lesions. We describe the case of a 45-year-old female asymptomatic triplet with multiple valvular heart lesions, with a somewhat different pattern between the dizygotic twin pairs compared with the monozygotic twin pair. After thorough assessment of medical history and physical examination, the triplet underwent two- and three-dimensional transthoracic and transesophageal echocardiographic examinations to assess the pathomechanism and severity of their heart valve lesions. The monozygotic twin pair (second-born twin B and third-born twin C) showed the same pattern of valvular lesions: mild mitral, tricuspidal, and aortic regurgitation of the same pathomechanism (posterior mitral valve cleft and aortosclerosis). Interestingly, the examination of first-born twin (twin A), who was dizygotic to twins B and C, revealed mild protosystolic mitral and mild tricuspidal regurgitation, but neither aortic insufficiency nor mitral cleft or indentation could be detected. Beyond the genetic effect, we presume that the intrauterine twinning process might also play a role in the development of congenital valvular heart disease. In order to verify this, further investigation should be performed on larger twin populations. Nevertheless, when one twin is affected, the other asymptomatic twin should also be examined for valvular heart disease.

Geleophysic dysplasia is an extremely rare acromelic skeletal dysplasia resembling lysosomal storage disease. It is characterised by characteristic facial phenotype, short stature, micromelia, joint contracture, and early cardiac valvular involvement. It has been described worldwide in <40 patients. Herein, we describe the cardiac features in three Saudi sisters with proved autosomal recessive geleophysic dysplasia who showed different levels of severity of their cardiac involvement.