According to the CDC, heart disease is the leading cause of death in the US.
We all know our family medical history is very important. We know that if there is a history of heart disease in your family, you should mention it to your doctor as you may have a predisposition for the condition as well. This is because many cardiac disorders are inherited.
Even today, with so many medical advances, the majority of inherited cardiac disorders remain without cure. There is no way to prevent cardiac disease if you are a carrier of specific gene mutations that are predisposing you to such disease. There is also no way to know at what age, if ever, one may be afflicted. In fact, you could have no symptoms at all until they are suddenly brought on by things like medication or excessive exercise.
If you or your partner have a family history of heart attack or sudden death at a young age, family members with pacemakers or internal cardiac defibrillators, arrhythmia, and cardiac surgery you may consider carrier screening. Carrier Screening will determine whether PGT should be considered as is an option during your family planning. With Preimplantation Genetic Testing (PGT), there is a way to prevent your children from being carriers of the same gene mutation.
Most couples that have had PGT for cardiac disease at RGI have had family history for premature or sudden death. To date, RGI has tested for Cardiac diseases caused by 28 genes as demonstrated in the table below.
|Disease||OMIM Number||Inheritance||Gene Name/Symbol|
|ANGIOEDEMA, HEREDITARY, TYPE I; HAE1||106100||AD||C1NH|
|AORTIC VALVE DISEASE 1; AOVD1||109730||AD||NOTCH1|
|ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9||609040||AR||PKP2|
|ARTERIAL TORTUOSITY SYNDROME; ATS||208050||AR||SLC2A10|
|ATELOSTEOGENESIS, TYPE II; AO2||256050||AR||SLC26A2|
|BARTH SYNDROME; BTHS||302060||XL||TAZ|
|CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1||604377||AR||SCO2|
|CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4||615280||AD||MAP2K2|
|CARDIOMYOPATHY, DILATED, 1A; CMD1A||115200||AD||LMNA|
|CARDIOMYOPATHY, DILATED, 1DD; CMD1DD||613172||AD||RBM20|
|CARDIOMYOPATHY, DILATED, 1E; CMD1E||601154||AD||SCN5A|
|CARDIOMYOPATHY, DILATED, 1G; CMD1G||604145||AR||TTN|
|CARDIOMYOPATHY, DILATED, 1S; CMD1S||192600||AD||MYH7|
|CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA||615821||AD||DSP|
|CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2||115195||AD||TNNT2|
|CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4||115197||AD||MYBPC3|
|CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7||613690||AD||TNNI3|
|CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8||608751||AD||MYL3|
|CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT||125310||AD||NOTCH3|
|COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1||607426||AR||COQ2|
|COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7||616276||AR||COQ4|
|HOLT-ORAM SYNDROME; HOS||142900||AD||TBX5|
|LOEYS-DIETZ SYNDROME 1; LDS1||609192||AD||TGFBR2|
|LONG QT SYNDROME 1; LQT1||192500||AD||KCNQ1|
|LONG QT SYNDROME 2; LQT2||613688||AD||KCNH2|
|LONG QT SYNDROME 8; LQT8||618447||AD||CACNA1C|
|NOONAN SYNDROME 1; NS1||163950||AD||PTPN11|
Please see our latest contribution on this topic in Annals of Heart ISSN: 2578-6520 (2/15/2021) by RGI’s Anver Kuliev, Tatiana Pakhalchuk, Maria Prokhorovich and Svetlana Rechitsky.
Written By: Anver Kuliev, PhD., Research Director, RGI.