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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.

DiseaseOMIM NumberInheritanceGene Name/Symbol
ANGIOEDEMA, HEREDITARY, TYPE I; HAE1106100ADC1NH
AORTIC VALVE DISEASE 1; AOVD1109730ADNOTCH1
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9609040ARPKP2
ARTERIAL TORTUOSITY SYNDROME; ATS208050ARSLC2A10
ATELOSTEOGENESIS, TYPE II; AO2256050ARSLC26A2
BARTH SYNDROME; BTHS302060XLTAZ
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1604377ARSCO2
CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4615280ADMAP2K2
CARDIOMYOPATHY, DILATED, 1A; CMD1A115200ADLMNA
CARDIOMYOPATHY, DILATED, 1DD; CMD1DD613172ADRBM20
CARDIOMYOPATHY, DILATED, 1E; CMD1E601154ADSCN5A
CARDIOMYOPATHY, DILATED, 1G; CMD1G604145ARTTN
CARDIOMYOPATHY, DILATED, 1S; CMD1S192600ADMYH7
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA615821ADDSP
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2115195ADTNNT2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4115197ADMYBPC3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7613690ADTNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8608751ADMYL3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT125310ADNOTCH3
COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1607426ARCOQ2
COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7616276ARCOQ4
HOLT-ORAM SYNDROME; HOS142900ADTBX5
LOEYS-DIETZ SYNDROME 1; LDS1609192ADTGFBR2
LONG QT SYNDROME 1; LQT1192500ADKCNQ1
LONG QT SYNDROME 2; LQT2613688ADKCNH2
LONG QT SYNDROME 8; LQT8618447ADCACNA1C
NOONAN SYNDROME 1; NS1163950ADPTPN11
SENGERS SYNDROME212350ARAGK
Based on 2020 Data

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.