CCCardiol CroatCardiologia CroaticaCardiol. Croat.1848-543X1848-5448Croatian Cardiac SocietyCC 2021 16_9-10_30710.15836/ccar2021.307Congenital valve diseaseExtended AbstractGenetic and personalized approach to valvular heart diseasehttps://orcid.org/0000-0001-6188-0708Cvitkušić LukendaKatica1*https://orcid.org/0000-0003-3169-3658VučićDomagoj1https://orcid.org/0000-0002-8727-7357Knežević PravečekMarijana1https://orcid.org/0000-0002-0116-5929GabaldoKrešimir1https://orcid.org/0000-0003-4600-0498MiškovićDomagoj1https://orcid.org/0000-0001-6568-3306MiškićBlaženka1https://orcid.org/0000-0002-6758-1677LivunAna2General Hospital dr. Josip Benčević, Slavonski Brod, CroatiaUniversity Hospital Dubrava, Zagreb, CroatiaAddress for correspondence: Katica Cvitkušić Lukenda, Opća bolnica dr. Josip Benčević, Andrije Štampara 42, HR-35000 Slavonski Brod, Croatia. / Phone: +385-98-556-576 / E-mail: kcvitkusiclukenda@gmail.com092021169-1030730709072021050820212021Croatian Cardiac SocietyKEYWORDS: bicuspid aortic valvecalcified aortic valve diseasegenetic testingmitral valve prolapse
Valve diseases have a large share in the total morbidity and mortality of the adult population, and can be congenital or acquired. The last few decades have seen a predominance of degenerative (calcified) heart valve diseases due to a prolonged life expectancy in economically developed countries. The therapeutic approach has remained unchanged and in the case of severe dysfunction, the valve is replaced with a mechanical or biological prosthesis, balloon valvuloplasty or valve reconstruction. The findings in understanding the development of heart valves along with human genome sequencing have led to the discovery of a genetic basis in valvular diseases (1). Also, there are numerous evidence to suggest that heart valve diseases which develop in adulthood has its source in embryonic development. In this review authors will display the genetic basis of the two most common inherited valvular diseases: bicuspid aortic valve and mitral valve prolapse, as well as a review of the findings suggesting a genetic contribution to calcified aortic valve disease (2). In addition, this review will include a review of the guidelines and benefits of genetic testing, as well as highlight the need to include genetic counseling in families with proven or suspected malformations. Linking genetic information to the clinical phenotype (Table 1) and potential outcomes of surgical treatment leads to a personalized approach to each patient (3).
Gene mutations associated with valvular heart disease.
Location
Gene
Inheritance
Phenotype
Bicuspid aortic valve
Syndromic
17q24.3
KCNJ2
AD
Andersen syndrome
Nonsyndromic
9q34.320q13.3315q22.3111q24.2
NOTCH1GATA5SMAD6ROBO4
ADAD, ARADAD
AOVD1CHTD5AOVD2AOVD3
Mitral valve prolapse
Syndromic
15q21.19q22.333p24.17q21.3, 12q13.1,2q32.2,9q34.3
FBN1TGFBR1TGFBR2Collagen types I–III, V/ XI
ADADADAR,ADAD,AD
Marfan syndromeLoeys-Dietz syndrome 1Loeys-Dietz syndrome2OI 1,Ehlers-Danlos syndrome, cardiac valvular type
LITERATUREBlueGMKirkEPGiannoulatouEShollerGFDunwoodieSLHarveyRPAdvances in the Genetics of Congenital Heart Disease: A Clinician’s Guide. . 2017 February 21;69(7):859–70. 10.1016/j.jacc.2016.11.06028209227KoenigSNLincolnJGargV. Genetic basis of aortic valvular disease. . 2017 May;32(3):239–45. 10.1097/HCO.000000000000038428157139DizOMToroRCesarSGomezOSarquella-BrugadaGCampuzanoO. Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns. . 2021 June 16;11(6):562. 10.3390/jpm1106056234208491