Key result
The monozygotic twin pair shared identical valvular lesions including a posterior mitral valve cleft and aortosclerosis, which were absent in their dizygotic triplet sister.
Case Report (n=3)
This case report suggests that beyond genetic effects, intrauterine twinning processes might play a role in the development of congenital valvular heart disease such as mitral valve cleft.
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.
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Molnár et al. (2014) conducted a case report in Valvular heart disease (n=3). Monozygotic twinning vs. Dizygotic twinning was evaluated on Pattern of valvular heart lesions. The monozygotic twin pair shared identical valvular lesions including a posterior mitral valve cleft and aortosclerosis, which were absent in their dizygotic triplet sister.
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