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Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid

Carlo Casali, MD, PhD^*, Giulia d’Amati, MD, PhD, Paola Bernucci, MD, PhD, Luciano DeBiase, MD, Camillo Autore, MD, Filippo M. Santorelli, MD^*, Domenico Coviello, PhD^|| and Pietro Gallo, MD

^* Istituto di Clinica delle Malattie Nervose e Mentali, Università di Roma–La Sapienza, Rome, Italy
Dipartimento di Medicina Sperimentale e Patologia, Università di Roma–La Sapienza, Rome, Italy
Istituto di Chirurgia del Cuore e dei Grossi Vasi–Cardiologia 2, Università di Roma–La Sapienza, Rome, Italy
Dipartimento di Scienze Cardiovascolari e Respiratorie, Università di Roma–La Sapienza, Rome, Italy
^|| Istituto di Biologia e Genetica, Università di Genova, Genoa, Italy

View larger version (92K): [in a new window]   Figure 1 M-mode and two-dimensional echocardiogram of the proband showing left ventricular wall hypertrophy, left ventricular dilation and diffuse hypokinesis.

View larger version (15K): [in a new window]   Figure 2 Family tree. Arrowhead indicates the proband. Filled symbols represent affected individuals.

View larger version (133K): [in a new window]   Figure 3 M-mode echocardiogram of an affected family member showing symmetrical left ventricular wall hypertrophy with normal diastolic and systolic diameters.