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A 36-year-old Caucasian woman was referred to the Cardiovascular Genetic and Genomic Medicine Clinic for genetic evaluation due to her diagnosis of idiopathic dilated cardiomyopathy (DCM) at 31 years of age. At that time she had presented emergently to cardiology care in advanced heart failure (HF) having had progressive dyspnea on exertion for several weeks. There was no known trigger to her symptom onset. Her echocardiogram revealed a left ventricular end-diastolic dimension (LVEDD) of 7.2 cm and a left ventricular ejection fraction (LVEF) of 10% to 15%. She underwent cardiac magnetic resonance imaging, which showed a dilated left ventricle, severe global hypokinesis, LVEF of 19%, biatrial enlargement, minimal midwall fibrosis with gadolinium enhancement, and no iron overload. She underwent emergent ventricular assist device (VAD) placement, was treated medically, and improved to the point where her VAD was explanted 1 year later. Since her VAD explant, she has continued with full medical therapy and has received close cardiovascular surveillance with her HF cardiologist. An implantable cardioverter defibrillator (ICD), placed after her VAD was removed, has delivered no shocks. A follow-up echocardiogram revealed an LVEDD of 5.8 cm with a LVEF of 30% to 35%.

During the Cardiovascular Genetic and Genomic Medicine Clinic appointment, which included consultation with a HF/heart transplant cardiologist with genetics expertise and a genetic counselor in a multidisciplinary team approach, the genetic counselor constructed a 4-generation pedigree for the proband, the person who serves as the starting point for the genetic evaluation of a family (Figure 5-1). The family history was significant for nonischemic cardiomyopathy (NICM) and heart transplant in a maternal first cousin once removed. A paternal grandfather was reported who died suddenly at 49 years of age. The proband’s father and mother were 62 years of age with no reported heart disease. The proband also had 3 siblings, none of whom had undergone cardiovascular screening to date. She also had multiple nieces and nephews. No other relatives were reported with a concerning history.

Figure 5-1

Pedigree of patient with dilated cardiomyopathy referred to Cardiovascular Genetic and Genomic Medicine Clinic. This 4-generation pedigree utilizes standard pedigree symbols (men are represented by squares; women are represented by circles). The pedigree was constructed by the genetic counselor during the proband’s first appointment in the clinic. An arrow points to the proband. A symbol key can be found in the lower right hand corner. The genetic testing results can be found under the proband and her affected sister with PPCM.

Genetic testing was discussed with the patient as a useful tool to investigate the underlying etiology of her cardiomyopathy. She had been assigned the diagnosis of idiopathic DCM, acknowledging that no plausible cause had been found. Also informing this discussion was the proband’s severe DCM at a young age of onset, and her remote family history of NICM requiring ...

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