We report the case of a patient with a pulmonary artery (PA) aneurysm secondary to a regurgitant quadricuspid pulmonary valve, in which both lesions were successfully repaired. The patient, a 16-year old boy, was known to have had pulmonary regurgitation and progressive dilation of the PA for years. He was operated on when he developed symptoms of effort, a dilated right ventricle and a PA of 55 mm. The quadricuspid pulmonary valve was an intraoperative finding. It had a dilated annulus, two normal cusps, a third with a 'sparrow-nest' configuration and the fourth was severely hypoplastic (which explained the valve regurgitation). The valve was repaired through tricuspidisation of the quadricuspid pulmonary valve (annular plication at the level of the hypoplastic cusp, freeing of excedentary tissue from the 'sparrow-nest' cusp and its reattachment to the plicated annulus). The aneurysm was treated through a reduction pulmonary arterioplasty. Early assessment showed the minimal regurgitation of the valve and a normal diameter PA. The outcome was uneventful, with a stable correction after 44 months of follow-up. To our knowledge, this is the first repair of a quadricuspid pulmonary valve, through tricuspidisation.
The concepts underlying hypertrophic cardiomyopathy (HCM) pathogenesis have evolved greatly over the last 60 years since the pioneering work of the British pathologist Donald Teare, presenting the autopsy findings of “asymmetric hypertrophy of the heart in young adults”. Advances in human genome analysis and cardiac imaging techniques have enriched our understanding of the complex architecture of the malady and shaped the way we perceive the illness continuum. Presently, HCM is acknowledged as “a disease of the sarcomere”, where the relationship between genotype and phenotype is not straightforward but subject to various genetic and nongenetic influences. The focus of this review is to discuss key aspects related to molecular mechanisms and imaging aspects that have prompted genotype–phenotype correlations, which will hopefully empower patient-tailored health interventions.
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