Genes Evaluated
ACTA2, ACTC1, AGL, APOB, APOE, BMPR2, CACNB2, CAV3, CFTR, COL3A 1, DES,DSC2, DSG2, DSP, ENG, F9, FBN1, FHL 1, FKRP, FKTN, KCNH2, KCNQ1, LDLR, MECP2,MYBPC3, MYH11, MYH6, MYH?, MYLK, NF1, PCSK9, PHOX2B, PKP2, PLN, PRKAG2, PTPN11,RAF1, RET, RYR1, RYR2, SCN4A, SCNN1A, SCNN1 B, SERPINA1, SGCD, SLC22A5, SMAD3,SMAD4, S0S1, STAT3, TAZ, TGFBR1, TGFBR2, TINF2, TMEM43, TNNC1, TNNT2, TPM1 ,TSC1, TSC2, TTN, TTR, ZEB2
Comprehensive Approach
These genes cover a wide range of cardiovascular and pulmonary disorders, including structural heart diseases (e.g., Marfan Syndrome, Loeys-Dietz Syndrome), cardiomyopathies (e.g., Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy), arrhythmias (e.g., Long QT Syndrome, ARVC), lipid metabolism disorders (e.g., Familial Hypercholesterolemia), and conditions affecting the pulmonary system (e.g., Pulmonary Arterial Hypertension, Cystic Fibrosis). Identifying mutations in these genes can help guide clinical management, including lifestyle modifications, medications, surgical interventions, and targeted therapies.
Gene Associations and Corresponding Disorders:
- ACTA2: Familial Thoracic Aortic Aneurysm and Dissection.
- ACTC1: Familial Hypertrophic Cardiomyopathy.
- AGL: Glycogen Storage Disease Type 111 (with potential cardiomyopathy).
- APOB: Familial Hypercholesterolemia.
- APOE: Cardiovascular disease risk and Hyperlipoproteinemia.
- BMPR2: Pulmonary Arterial Hypertension.
- CACNB2: Cardiac arrhythmias, including Long QT Syndrome.
- CAVJ: Long QT Syndrome, Familial Hypertrophic Cardiomyopathy.
- CFTR: Cystic Fibrosis (affecting lungs and pancreas).
- COLJA 1: Ehlers-Danlos Syndrome Type IV (Vascular Type).
- DES: Desmin-related Myopathy, Cardiomyopathy.
- ENG: Hereditary Hemorrhagic Telangiectasia.
- F9: Hemophilia B (affecting blood clotting).
- FBN1: Marfan Syndrome.
- FHL 1: Emery-Dreifuss Muscular Dystrophy.
- FKRP, FKTN: Congenital Muscular Dystrophies with cardiomyopathy.
- KCNH2, KCNQ1: Long QT Syndrome.
- LDLR: Familial Hypercholesterolemia.
- MECP2: Rett Syndrome (rarely associated with cardiac issues).
- MYBPCJ, MYH6, MYH7: Familial Hypertrophic Cardiomyopathy.
- MYH11: Familial Thoracic Aortic Aneurysm and Dissection.
- MYLK: Familial Thoracic Aortic Aneurysm and Dissection.
- NF1: Neurofibromatosis Type 1 (with possible cardiovascular involvement).
- PCSK9: Familial Hypercholesterolemia.
- PHOX2B: Congenital Central Hypoventilation Syndrome.
- PKP2: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC).
- PLN: Dilated Cardiomyopathy.
- PRKAG2: PRKAG2 Cardiac Syndrome (with hypertrophic cardiomyopathy and glycogen storage). PTPN11: Noonan Syndrome (with congenital heart defects).
- RAF1: Noonan Syndrome (with congenital heart defects).
- RET: Multiple Endocrine Neoplasia Type 2 (with possible cardiovascular issues).
- RYR1: Malignant Hyperthermia, Central Core Disease.
- RYR2: Catecholaminergic Polymorphic Ventricular Tachycardia.
- SCN4A: Periodic Paralysis.
- SCNN1A, SCNN1 B: Liddle Syndrome (hypertension).
- SERPINA1: Alpha-1 Antitrypsin Deficiency (affecting lungs and liver).
- SGCD: Limb-Girdle Muscular Dystrophy (with cardiomyopathy).
- SLC22AS: Primary Carnitine Deficiency.
- 5MAD3, 5MAD4: Loeys-Dietz Syndrome.
- 5051: Noonan Syndrome.
- 5TAT3: Hyper-lgE Syndrome (Job Syndrome).
- TAZ: Barth Syndrome (cardiomyopathy and neutropenia).
- TGFBR1, TGFBR2: Loeys-Dietz Syndrome.
- TINF2: Dyskeratosis Congenita.
- TMEM43: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC).
- TNNC1, TNNT2, TPM1: Familial Hypertrophic Cardiomyopathy.
- T5C1, T5C2: Tuberous Sclerosis Complex (with possible cardiac rhabdomyomas). TTN: Dilated Cardiomyopathy.
- TTR: Hereditary Amyloidosis (including Familial Amyloid Polyneuropathy and Familial Amyloid Cardiomyopathy).
- ZEB2: Mowat-Wilson Syndrome (with potential cardiovascular anomalies).