Aortic Valve Replacement in Osteogenesis Imperfecta-Technical and Practical Considerations for a Successful Outcome

Abstract

Osteogenesis imperfecta is a connective tissue disorder that is rarely associated with isolated aortic insufficiency. Surgery on such patients carries high morbidity and mortality, which are mostly associated with bleeding tendencies secondary to increased tissue and capillary fragility. We report a 42-year-old male with isolated aortic incompetence, who underwent aortic valve replacement (AVR) with a mechanical prosthesis. The postoperative course was uneventful, and the patient was discharged home on the seventh postoperative day (POD 7). He remains well on follow-up 6 months later. We highlight the importance of a meticulous surgical technique, together with a strategy for management of anticipated perioperative complications to ensure a successful outcome.

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

“…The valvular regurgitations varied in degree of severity, going from mild to severe forms. Moreover, valvular regurgitations were the most common type of cardiovascular complication reported in the 24 case studies: Eleven patients had aortic regurgitation (Aoki, Kuraoka, Ohtani, & Kuroda, ; Badmanaban, Sachithanandan, & MacGowan, ; Concistre et al, ; Dimitrakakis, Challoumas, & von Oppell, ; Iha et al, ; Joshi, Thakur, Finn, & Sadlier, ; Najib et al, ; Roubelakis, Moorjani, Gallagher, & Ohri, ; Soga, Takaya, Mori, Nishii, & Hirata, ; Suzuki, Sezai, Unosawa, Hao, & Tanaka, ). Six patients had mitral regurgitation (Alfirevic & Insler, ; Hajsadeghi, Jafarian Kerman, Pouraliakbar, & Mohammadi, ; Miranda, Araji, Gutierrez‐Martin, & Tellez, ; Soma et al, ; Tagliasacchi, Martinelli, Bardaro, & Chierchia, ; van der Kley et al, ). Eight patients had both aortic and mitral regurgitations (Bonita, Cohen, & Berko, ; Eskola, Niemela, Kuusinen, & Tarkka, ; Huang, Dinh, Kuchle, & Zhou, ; Minol, Zeus, Blehm, & Veulemans, ; Scognamiglio, Santoro, Fusco, Russo, & Sarubbi, ; Sumi et al, ; Vandersteen et al, ; Wakiyama, Okada, Kitamura, & Imai, ). …”

“…Folkestad et al (2016) found that 1.3% of individuals with OI had an arterial dissection or aneurysm, compared to 0.8% in their reference population. Other cardiovascular complications found were: Arterial stenosis (Alfirevic & Insler, ; Bonita et al, ), Endocarditis of the valves (Balasubramanian et al, ; Itoda et al, ; Pfannmueller, Borger, Battellini, & Mohr, ; Vandersteen et al, ), Valve insufficiency (Pfannmueller et al, ), Aortic insufficiency (Itoda et al, ; Roubelakis et al, ), and; Ventricle hypertrophy (Alfirevic & Insler, ; Badmanaban et al, ; Eskola et al, ; Huang et al, ; Iha et al, ; Suzuki et al, ) (Table S1). …”

Valvular Heart Disease in Osteogenesis Imperfecta: Presentation of a Case and Review of the Literature

“…Because of the low incidence of severe aortic regurgitation and an even lower incidence of mitral regurgitation in this population, there are only a limited number of reports in the literature on the surgical management of incompetent valves in OI. This report brings the number of reports of surgical intervention to 38 cases involving cardiac valves and/or root disease 7,9–14 . Overall, these patients predominantly received mechanical valve prostheses with only five documented attempts at valve repair.…”

“…The annulus is often myxomatous, so that suturing and proper positioning of the prosthesis can be challenging, increasing the likelihood of perivalvular leakage and dehiscence. Meticulous surgical technique to minimize tissue manipulation is critical to successful outcome 8,9,14,28 . The improved outcomes in the more recent cases are related to the heightened awareness of these issues as well as the overall improvement in cardiac surgical techniques.…”

Living Donor Liver Transplantation for an Infant with Osteogenesis Imperfecta and Intrahepatic Cholestasis: Report of a Case

“…Although there has been no report of LT for the patient with OI, multiple obstacles have been known in vascular or orthopedic surgery; bleeding tendency, cervical and rib fragility, and hyperthermia associated with the conventional inhalation anesthesia (6, 7). And another problem was lactic acidosis under the intravenous anesthesia with propofol (8).…”