[The Genetic Area of the ANMCO. Family history in modern cardiology: cardiomyopathies -- Part II].
The family history plays an important role in the cardiomyopathy setting. Cardiomyopathies are defined as familial when at least two members of the family are proven as affected. Given that the definition of familial cardiomyopathy has to be evidence-based, the familial forms have to be identified and documented. Detailed family pedigrees are obtained by interviewing patients and relatives and examining all clinical and pathological reports. Then, the clinical non-invasive screening of relatives is proposed, and performed in all informed and consenting relatives. All patients diagnosed with cardiomyopathy are potentially affected by familial forms, until relatives are proven to be unaffected. A few exceptions could be for syndromic disorders for which the phenotypes provide certainty elements/signs analogous to those observed in the proband. Key points for family history interpretation are the phenotype at onset, the time of onset, the presence/absence of coronary risk factors (such as diabetes and hypertension) and concomitant diseases. Special attention has to be paid to neuromuscular disorders that represent a wide heterogeneous issue in which cardiac involvement (cardiomyopathy, arrhythmias and conduction defects) could be the first manifestation of the disease. Based on rigorous investigation, the information derived for each family will provide useful data for present and future management of the family members, and for future research in the field of cardiomyopathies.
Repetto
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A
Dipartimento di Cardiologia, IRCCS Policlinico San Matteo, Pavia.
Pisani
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A
Arbustini
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E
D006331:Heart Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008487:Medical History Taking