Biomarkers in Cardiology – Part 1 – In Heart Failure and Specific Cardiomyopathies

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Special Article • Arq. Bras. Cardiol. 103 (06) • Dec 2014 • https://doi.org/10.5935/abc.20140184 copy

Biomarkers in Cardiology – Part 1 – In Heart Failure and Specific Cardiomyopathies

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Cardiovascular diseases are the leading causes of mortality and morbidity in Brazil. The primary and secondary preventions of those diseases are a priority for the health system and require multiple approaches to increase their effectiveness. Biomarkers are tools used to more accurately identify high-risk individuals, to speed the diagnosis, and to aid in treatment and prognosis determination. This review aims to highlight the importance of biomarkers in clinical cardiology practice, and to raise relevant points of their use and the promises for the coming years. This document was divided into two parts, and this first one discusses the use of biomarkers in specific cardiomyopathies and heart failure.

Biological markers; Heart Failure; Cardiomyopathies; Evidence-Based Practice

Hypertrophic Cardiomyopathy (HCM)
Panel targeted to HCM (beta-myosin heavy chain gene, myosin binding protein C gene and troponin T gene)
– The patient clinically diagnosed with HCM based on clinical and family history, as well as on the electrocardiographic/echocardiographic phenotype;
– In family members, after confirming the specific mutation in the index case.
Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy (ARVD/CM)
Panel targeted to ARVD/CM (Mutations in PKP2, DSC2, DSG2, DSP, JUP and TMEM43 genes)
– Any patient clinically suspected of having ARVD/D based on clinical and family history, as well as on the electrocardiographic/echocardiographic phenotype;
– In family members after identifying an ARVD/D-associated mutation in an index case.
Dilated Cardiomyopathy (DCM)
Comprehensive panel or targeted to DCM (LMNA and SCN5A genes and others)
– Patients with DCM and significant cardiac conduction defect (such as first-, second- and third-degree heart block) and/or family history of early sudden death;
– Genetic testing with investigation of specific mutations in family members after identifying a DCM-associated mutation in an index case.
Progressive Cardiac Conduction Defect (CCD)
Panel targeted to CCD (specific mutations in SCN5A or Lamin A/C genes)
– As part of the diagnostic algorithm in patients with isolated CCD or CCD with congenital heart disease, in the presence of documented family history of CCD.
– In family members after identifying a CCD-associated mutation in an index case.

Long QT Syndrome (LQTS)
Panel targeted to LQT1-3 (mutations in KCNQ1, KCNH2 and SCN5A genes)
– Any patient to whom a cardiologist has established a strong diagnostic suspicion of LQTS based on clinical and family history, as well as on the electrocardiographic phenotype (12-lead ECG at rest and/or exercise test or dobutamine stress test); any asymptomatic patient with QT prolongation in the absence of other clinical condition that can prolong that interval (such as electrolyte abnormalities, hypertrophy, block, considered idiopathic) based on ECG with 12 serial leads defined as QTc >480 ms (pre-puberty) or >500 ms (adults);
– In family members after identifying a LQTS-associated mutation in an index case.
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Panel targeted to CPVT1 or 2 (mutations in RYR2 and CASQ2 genes)
– Any patient clinically suspected of having CPVT based on clinical and family history, as well as on the electrocardiographic phenotype (bicycle or treadmill exercise test or dobutamine stress test);
– In family members after identifying a CPVT-associated mutation in an index case.
Brugada Syndrome (BrS)
Panel targeted to BrS (Specific mutation in the SCN5A gene)
– Comprehensive panel for BrS (SCN5A gene mutations): recommended for any patient clinically suspected of having BrS based on clinical and family history, as well as on the electrocardiographic phenotype (12-lead ECG at rest and/or dobutamine stress test). Genetic testing is NOT indicated in the context of an isolated type 2 or type 3 Brugada ECG pattern.
– In family members after identifying a BrS-associated mutation in an index case.
Short QT Syndromes (SQTS)
Panel targeted to SQTS (Specific mutations in KCNQ1, KCNJ2 and KCNH2 genes)
– Any patient to whom a cardiologist has established a strong diagnostic suspicion of SQTS based on clinical and family history, as well as on the electrocardiographic phenotype.
– In family members after identifying an SQTS-associated mutation in an index case.

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