Area genetica ANMCO. L'anamnesi familiare nella cardiologia moderna: le cardiomiopatie--parte II.

Translated title of the contribution: The Genetic Area of the ANMCO. Family history in modern cardiology: cardiomyopathies -- Part II

Research output: Contribution to journalArticle

Abstract

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.

Original languageItalian
Pages (from-to)498-509
Number of pages12
JournalItalian Heart Journal
Volume2
Issue number5 Suppl
Publication statusPublished - May 2001

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Modern 1601-history
Cardiology
Cardiomyopathies
Phenotype
Pedigree
Cardiac Arrhythmias
Hypertension

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Area genetica ANMCO. L'anamnesi familiare nella cardiologia moderna : le cardiomiopatie--parte II. / Repetto, A.; Pisani, A.; Arbustini, E.

In: Italian Heart Journal, Vol. 2, No. 5 Suppl, 05.2001, p. 498-509.

Research output: Contribution to journalArticle

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