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May 3, 2022 Circulation. 2022;145:e895–e1032. DOI: 10.1161/CIR.0000000000001063 e912 CLINICAL STATEMENTS AND GUIDELINES leads to a reduction in BNP and NT-proBNP levels represent a population with improved long-term outcomes compared with those with persistently elevated levels despite appropriate treatment.37–39 BNP and NT-proBNP levels and their change could help guide discussions on prognosis as well as adherence to, and optimization of, GDMT. 4.3 Genetic Evaluation and Testing Recommendations for Genetic Evaluation and Testing Referenced studies that support the recommendations are summarized in the Online Data Supplements. COR LOE Recommendations 1 B-NR 1. In first-degree relatives of selected patients with genetic or inherited cardiomyopathies, genetic screening and counseling are recommended to detect cardiac disease and prompt consideration of treatments to decrease HF progression and sudden death.1,2 2a B-NR 2. In select patients with nonischemic cardiomyopathy, referral for genetic counseling and testing is reasonable to identify conditions that could guide treatment for patients and family members.3,4 Synopsis In patients in whom a genetic or inherited cardiomyopathy is suspected, a family history should be performed, including at least 3 generations and ideally diagrammed as a family tree pedigree (see Section 4.1, “Clinical Assessment: History and Physical Examination”). Genetic variants have been implicated in 25% to 40% of patients with DCM with a positive family history but also in 10% to 30% of patients without a recognized family history.3,4 Phenotype and family history are important for identifying patients in whom genetic testing is most likely to yield clinically actionable information (Table 7). Presentation of DCM with conduction disease or ventricular arrhythmias raises concern of sarcoidosis and arrhythmogenic cardiomyopathy, which is of particular concern because of the risk of sudden death in patients and families.5 No controlled studies have shown clinical benefits of genetic testing for cardiomyopathy, but genetic testing contributes to risk stratification and has implications for treatment, currently most often for decisions regarding defibrillators for primary prevention of sudden death5 and regarding exercise limitation for hypertrophic cardiomyopathy and the desmosomal variants. Consultation with a trained counselor before and after genetic testing helps patients to understand and weigh the implications of possible results for their own lives and those of family members, including possible discrimination on the basis of genetic information. Unless shown to be free of the genetic variant(s) implicated in the proband, first-degree relatives of affected probands should undergo periodic screening with echocardiography and electrocardiography. Table 7. Examples of Factors Implicating Possible Genetic Cardiomyopathy Phenotypic Category Patient or Family Member Phenotypic Finding* Ask Specifically About Family Members* With Cardiac morphology Marked LV hypertrophy Any mention of cardiomyopathy, enlarged or weak heart, HF. Document even if attributed to other causes, such as alcohol or peripartum cardiomyopathy LV noncompaction Right ventricular thinning or fatty replacement on imaging or biopsy Findings on 12-lead ECG Abnormal high or low voltage or conduction, and repolarization, altered RV forces Long QT or Brugada syndrome Dysrhythmias Frequent NSVT or very frequent PVCs Sustained ventricular tachycardia or fibrillation ICD Recurrent syncope Sudden death attributed to “massive heart attack” without known CAD Unexplained fatal event such as drowning or single-vehicle crash Early onset AF “Lone” AF before age 65 y Early onset conduction disease Pacemaker before age 65 y Extracardiac features Skeletal myopathy Neuropathy Cutaneous stigmata Other possible manifestations of systemic syndromes Any known skeletal muscle disease, including mention of Duchenne and Becker’s, Emory-Dreifuss limb-girdle dystrophy Systemic syndromes: Dysmorphic features Mental retardation Congenital deafness Neurofibromatosis Renal failure with neuropathy AF indicates atrial fibrillation; CAD, coronary artery disease; LV, left ventricular; NSVT, nonsustained ventricular tachycardia; PVC, premature ventricular contraction; and RV, right ventricular. *Note that genetic cause is more likely when the person is younger at the onset of events. However, the cardiac morphology and peripheral manifestations of hereditary amyloidosis may present in later life, unlike most other inherited cardiomyopathies. Downloaded from http://ahajournals.org by on October 7, 2026