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J Heart Lung Transplant. 2016 Apr;35(4):474-80. doi: 10.1016/j.healun.2015.12.002. Epub 2015 Dec 11.

Familial dilated cardiomyopathy diagnosis is commonly overlooked at the time of transplant listing.

Author information

1
Division of Cardiovascular Medicine, Yale University School of Medicine, New Haven, CT, USA; Division of Cardiovascular Medicine, Brigham & Women's Hospital, Boston, MA, USA.
2
Division of Cardiovascular Medicine, Yale University School of Medicine, New Haven, CT, USA.
3
Division of Cardiovascular Medicine, Yale University School of Medicine, New Haven, CT, USA; Program of Applied Translational Research, Yale University School of Medicine, New Haven, CT, USA.
4
Division of Cardiovascular Medicine, Yale University School of Medicine, New Haven, CT, USA; Institute of Cardiovascular Science, University College London, London, England.
5
Division of Cardiovascular Medicine, Yale University School of Medicine, New Haven, CT, USA. Electronic address: Daniel.Jacoby@yale.edu.

Abstract

BACKGROUND:

The prevalence and clinical characteristics of familial dilated cardiomyopathy (FDCM) among patients with end stage heart failure (ESHF) has yet to be elucidated. We sought to determine the prevalence of FDCM in ESHF in the United Network for Organ Sharing (UNOS) registry and compare this with center specific data from a large tertiary teaching hospital. Patients with a banked UNOS diagnosis of dilated cardiomyopathy (DCM) whose care originated at our center then underwent detailed pedigree analysis in order to determine the true prevalence of FDCM.

METHODS AND RESULTS:

A total of 16,091 patients with DCM from all centers were identified in the UNOS registry of whom 492 carried the diagnosis of FDCM (3.1%). Patients with the diagnosis of FDCM tended to be younger (42 versus 49 years old in idiopathic dilated cardiomyopathy (IDCM), p=0.001), were less likely to have diabetes (7.8% versus 16.5% in IDCM, p<0.0001), had slightly lower creatinine (1.2 versus 1.4 in IDCM, p=0.0001) and were more likely to have a panel reactive antibody level ≥ 20% (62.1% versus 44.7% in IDCM, p<0.0001). Consecutive living adult patients with ESHF were identified from the UNOS registry that had been treated at the Yale Center for Advanced Heart Failure (YCAHF). After excluding all diagnoses that did not include any form of non-ischemic DCM, 73 patients met the inclusion criteria. Center-specific UNOS data showed pre-pedigree analysis diagnosis of FDCM in 4.12% of patients (3 out of 73), consistent with that found in the UNOS database for all centers. However, after detailed family history and pedigree analysis, 19 (26%) of 73 patients were found to have FDCM, while the remaining 54 were found to have IDCM. Echocardiographic findings including mitral regurgitation, mitral valve annulus and left ventricular end diastolic dimension were not significantly different between groups when adjusting for multiple testing.

CONCLUSIONS:

The diagnosis of FDCM was missed in the majority of patients with end stage heart failure enrolled in the UNOS database, as sampled from a large, tertiary care teaching hospital in the United States. Echocardiographic findings are unlikely to aid in the differentiation between DCM and FDCM. Detailed pedigree analysis can successfully identify undiagnosed FDCM and should be encouraged prior to transplant listing as it has important implications for early detection and treatment of disease in family members.

KEYWORDS:

cardiomyopathy; end-stage heart failure; familial dilated cardiomyopathy; pedigree analysis

PMID:
26852066
PMCID:
PMC5423783
DOI:
10.1016/j.healun.2015.12.002
[Indexed for MEDLINE]
Free PMC Article

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