Familial Cardiomyopathy: A Clinical, Before the Bench Diagnosis

ORIGINAL ARTICLE, 4 February 2010, VOL 2 ISSUE I, ISSN 2042-4884
doi: 10.5083/ejcm.20424884.15 , Cite or Link Using DOI
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Eloisa Arbustini MD, Fabiana I Gambarin, Alessandra Serio, Michele Pasotti, Maurizia Grasso, Giuseppe Speziale, MD, Stefano Bosi, MD, Luigi Tavazzi MD

The recent clinical and genetic advancements in establishing the genetic basis of inherited cardio-myopathies are introducing a novel medical need that extends the cardiologic care from the proband/index patients to their families. Family screening studies of consecutive series of patients diagnosed with Dilated Cardiomyopathy (DCM) (that was considered for more than 20 years the paradigm of post-viral disease) have shown that more than 50% of the so called “idiopathic“ DCM are familial. This implies that several members of the same family are either affected or will develop the disease later on in the course of their life.

A simple family history or, even better, the clinical screening of relatives (using routine tools as ECG and echocardiography) can identify either affected, asymptomatic family members or individuals showing echocardiographic or electrocardiographic abnormalities that could predict the development of the disease. Re-screening/follow-up of family members provides the evidence that, in variable intervals of time from the first clinical evaluation [available studies include ranges from 3 to 10 years], 6-10% of relatives develop the disease according to WHO criteria.

The evidence that other types of cardiomyopathies are familial and have a genetic origin extends to Hypertrophic Cardiomyopathy [HCM], Arrhythmogenic Right Ventricular Cardiomyopathy [ARVC] and Restrictive Cardiomyopathy [RCM]. HCM has more than 70% of familial cases, ARVC has at least 50% of familial cases and RCM, which includes a broad spectrum of diseases involving the heart only, or the heart and the skeletal muscle, or one of the phenotypes of more complex and systemic diseases.

* Centre for Inherited Cardiovascular Diseases Foundation I.R.C.C.S. Policlinico San Matteo, Pavia
§ GVM Care and Research, Cotignola (Ravenna) and Bari†, Italy 
†GVM Care and Research, Cotignola (Ravenna) and Bari, Italy

Correspondence to: 
Prof. Eloisa Arbustini, Centro Malattie Genetiche Cardiovascolari, IRCCS Policlinico S.Matteo Piazzale Golgi, 19 27100 Pavia, Italy. e.arbustini@smatteo.pv.