. 2021 Jun 8;116(6):1174–1212. [Article in Portuguese] doi: 10.36660/abc.20210367

Table 8.3. Recommendations for genetic assessments for patients with cardiomyopathies and HF.

Recommendations	Class	LE	Comment	Table 2018	Ref.
Genetic counseling for patients and family members with inherited cardiomyopathies and previously identified mutations.	I	C	NEW: Advances in molecular genetic assessment techniques enable the early identification of inherited cardiomyopathies, supporting the subclassification of clinical syndromes and individualized treatment.	New	121–125
Screening test to 1^st degree relatives of patients with inherited cardiomyopathies.	I	C		New	121–125
Sequencing of the transthyretin gene in patients diagnosed with transthyretin cardiac amyloidosis.	I	C		New	121–125
Molecular genetic assessment to investigate the etiology and evaluate the prognosis of patients with inherited cardiomyopathy phenotype.	IIa	C		New	121–125
Routine molecular genetic assessment for HF patients.	III	C		New	121–125
The incorporation of next-generation sequencing has increased the sensitivity of genetic testing, allowing for early early diagnosis for future interventions.¹²¹ Consequently, molecular assessments have allowed routine genetic testing for patients with inherited cardiomyopathies, such as hypertrophic, restrictive and/or dilated arrhythmogenic cardiomyopathies, and non-compacted myocardium, due to its potential to provide more individualized and precise counseling for patients with these conditions as well as for their family members.¹²² One clear example of this need is the distinction between wild-type and inherited transthyretin cardiac amyloidosis (ATTR) as cascade genetic testing allows at-risk relatives to be definitively identified. It should be highlighted that current therapies for ATTR are particularly beneficial when initiated during the early stages of the disease, as described in item 2, Table 2.4.¹²³ Advances in prognostic assessment involving genes with high arrhythmogenic potential have also been described for dilated and arrhythmogenic cardiomyopathies.¹²⁴^,¹²⁵ Thus, it is important to pursue more efficient uses of genetic information, especially in family counseling, leading to safe and sustainable results in the care of these patients and their family members.

HF: heart failure.