Author + information
- Brittney Murray, MS,
- Crystal Tichnell, MGC,
- Cindy James, ScM, PhD,
- Harikrishna Tandri, MD and
- Hugh Calkins, MD∗ ()
- ↵∗Division of Cardiology, The Johns Hopkins Hospital, 1800 Orleans Street, Sheikh Zayed Tower 7125R, Baltimore, Maryland 21287-0409
We read with interest the paper by Marcus et al. (1) published in the May 14, 2013 issue of the Journal. The authors brought to light the complex nature of clinical genetics in arrhythmogenic right ventricular cardiomyopathy (ARVC) patients. Overall, this paper provides an important review of the current state of clinical genetic testing for this rare condition. We applaud the authors for their confirmation of the Heart Rhythm Society/European Heart Rhythm Association guidelines (2) in recommending genetic counseling when ordering genetic testing in this and other cardiomyopathies.
The Johns Hopkins arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) program was established in 1999 with 3 goals: 1) to educate patients and physicians about ARVD/C; 2) to evaluate and manage patients with known or suspected ARVD/C; and 3) to contribute to the body of literature regarding this condition. The program has facilitated the clinical evaluation of over 1,140 patients and follows over 250 families with confirmed disease enrolled in the registry. In-house clinical protocols have been established for managing these families.
The management of ARVD/C patients during pregnancy was 1 of the important clinical issues raised by the authors. Pregnancy among ARVD/C patients in the literature is scarce except for scattered case reports and the important series published by Bauce et al. (3) in 2006. With the proliferation of genetic testing and increased recognition of ARVD/C, earlier diagnoses have become possible. During the 14 years our program has been in existence, we have cared for a considerable number of arrhythmogenic right ventricular dysplasia (ARVD) patients who became pregnant. Each of these patients did well during and following pregnancy. In our center, we advise Holter monitoring at 7 months gestation, integration of the cardiac and obstetrical team in planning for delivery, and echocardiogram and Holter monitoring 3 months postpartum. We agree that for the ARVD/C patient considering pregnancy, it is important to discuss the psychosocial issues surrounding passing on a genetic disease. Fortunately, the penetrance of ARVD is low, the expressivity of disease is variable, and, most importantly, ARVD is associated in most patients with a high quality of life and a near-normal life expectancy.
We would caution the reader regarding the authors' suggestion of in vitro fertilization to conceive embryos without a mutation, if known in the family. This is an expensive and invasive option that is, in our experience, unnecessary. As the authors themselves note, digenic inheritance is not uncommon in ARVD/C (4); therefore, pre-implantation genetic diagnosis may not guarantee that the child will not be at risk of developing disease, limiting possible effectiveness. We advise considerable counseling and caution in utilizing this procedure in the setting of solely hoping to avoid ARVD/C in the offspring. Also, regarding amniocentesis to evaluate for ARVD/C-associated mutations, the risk and benefits of this invasive procedure, including a well-appreciated risk of miscarriage, should be thoroughly discussed.
Marcus et al. (1) provide a tool to update physicians regarding genetic testing options to be utilized in the setting of genetic counseling. We hope, however, that an accurate message is portrayed regarding pregnancy in ARVD/C patients and the use of genetic testing technology in such a setting.
- American College of Cardiology Foundation
- Marcus F.I.,
- Edson S.,
- Towbin J.
- den Haan A.D.,
- Tan B.Y.,
- Zikusoka M.N.,
- et al.