Cardiovascular Diseases | Ask the Geneticist (SM)

Q&A about conditions where heart problems or heart symptoms are a major characteristic that are influenced in whole or part by genetic factors. Examples include congenital (present at birth) heart defects, Brugada syndrome, and Wolf-Parkinson-White syndrome.

Other information about cardiovascular diseases:

-American Heart Association

http://www.hearthub.org/

-Genetics Education Center, University of Kansas

http://www.kumc.edu/gec/support/conghart.html

Subtopics

APOE (1) Aneurysms (2) Atherosclerosis (1) Brugada (7) Complete heart block (1) Congenital heart defects (CHD) (7) Early-Onset Heart Disease (4) Familial combined hyperlipidemia (FCHL) (1) Hypertrophic cardiomyopathy (HCM) (1) Inappropriate sinus tachycardia (IST) (1) Long QT Syndrome (4) Miscellaneous/Unclear Diagnosis (4) Multiple Heart Problems (3) Pulmonary Hypertension (3) Wolff-Parkinson-White (12) No Sub-topic (0) Showing 52 questions

Displaying: All questions - use the list above to filter results.


	Question		Date



	I have been tested for Brugada Syndrome and had a positive result with the Flecainide test but the electrical stimulation did not provoke any reaction. I have no consultant and have been given no follow-up actions. I see my GP for unrelated conditions. I would like to know whether there are any drugs that I should not take (I only know of Quinidine and Flecainide). View Answer


	My adopted child's birthparents were siblings. We have a diagnosis of Long QT syndrome treated effectively. There is also a progressive kidney disorder (medullary sponge kidney with nephrocalcinosis), 2 bouts of pancreatitis at age 14 followed by sugical treatment, fused cervical vertebrae (5-6) from birth, hearing loss, and adolescent mental health issues. I suspect there may be another genetic syndrome not yet identified. Do you recommend specific testing? My child is bright and currently functioning well; but has not been informed about genetic history yet. We want to prevent and/or prepare for any further health issues. Suggestions? View Answer		2009-11-13


	If someone was diagnosed with wolff parkinsons white syndrome and they havent shown any symptoms but they are a regular runner (lets say track, maybe even cross country) could this worrsen the condition causing more severe side affects in there future? View Answer		2009-10-20


	Myself and 4 others in our family have atrial fibrillation. My doctor is going to send me to a geneticist. What will he be able to find out? If it can be demonstrated that I have the gene, then does this mean it can be treated? If my two adult children are also tested and found to have the gene for it, what can they do to avoid it starting. Thank you for your help. View Answer		2009-10-19


	Both of my husbands oldest brothers were diagnosed with pulmonary hypertension in there 50's. His oldest brother died of this about 5 yrs ago, and then about 2 yrs later the next oldest brother was diagnosed and is now very sick & in the hospital. Should my husband who is in his 40's and relatively healthy be screened for this disease or is there any type of test to know if he will develope pulmonary hypertension. Thank you View Answer		2009-09-04


	My son is almost 9 months. I knew in utero that he had an atrioventricular canal defect. On April 26th his partial AV canal was patched. In January, he had a swallow study done and it was determined that he could not swallow and aspirated. Ultimately he ended up with a g-tube on January 26th. He has has reflux problems that eventually led to some vomiting, which led to a fundoplication when reglan and prevacid were not working. The fundo was done in July. The common theme that he has been in the emergency room for and hospitalized for is respiratory distress. For the most part, his chest x rays come back fine. He is hospitalized now. It was determined he had sinusitus and some type of infiltrate that appeared to be a cloudy area on his right lung in the chest xray. It has not disappeared and he is unable to be weaned off of oxygen. Every time he is off oxgen his desats. View Answer		2009-08-07


	My son was diagnosed some time ago with Wolff-Parkinson - White Syndrome. He and his wife have an 8 month old daughter and I'd like to know what the chances are of her inheriting the sympton from her father. Thank you. View Answer		2009-07-06


	My husband recently suffered complete heart block (now 100% paced with a pacemaker) for which no reason can be found. His cardiologist said there can sometimes be a genetic link for this problem and as my husband's grandfather and his grandfather's two brothers all died aged 60-62 of a sudden "heart attack" I'm wonder if this might be a possibility and if there is a genetic test to verify this. View Answer		2009-06-13


	My father-in-law was diagnosed with Brugada syndrome after surviving a cardiac arrest. We discovered that the Brugada Foundation in Spain will conduct a genetic test of his DNA free of charge in order to determine if there is an identifiable gene mutation that can be screened for in his children and grandchildren. But they say that the results can take up to 6 months. Is that lengthy timeframe inherent in this sort of genetic testing, or would we be able to get results much faster through a commercial genetics testing lab? View Answer		2009-04-30


	I have been diagnosed with Brugada Syndrome. Upon research I have found it is attributed to a SCN5A gene mutation. Is there Blood/DNA test to locate and map this gene for further proof of syndrome? View Answer		2009-04-06


	Hello Both my son and daughter have been diagnosed with a genetic heart condition called Brugada Syndrome. A faulty gene has been found in both my children and the gene has just been found in me. My question is. Does me having the faulty gene also mean i have the condition as well as my children. Thank you View Answer		2009-02-06


	granson was born with unilateral right hand with floating right thumb,5 months later found to have tetralogy of fallots,should this have been picked up at birth,born 7 weeks prem put on scbu for 4 weeks. View Answer		2009-02-02


	I have a one year old son who was diagnosed at birth to have WPW. He is currently on medication to regulate his heart and thankfully everything is going well. I am curious to know as to whether or not my wife and I should be tested as well for WPW. Or even have my 4 year old son tested? thanks View Answer		2009-01-22


	I WAS DIAGNOSED WITH WPW 1 YR. AGO. I SEEN THE CARDIO DR. I HAVE NOT HAD THE PROCEDURE DONE YET. I HAVE BEEN ON MED FOR HYPERTENSION. OF FOR 2 WEEKS NOW..MY HEART RATE IS 55-57 BEATS PER MIN. I HAVE READ ABOUT TACHYCARDIA, BUT WHAT ABOUT BRADYCARDIA WITH WPW? MY B/P IS GREAT 128/78 EVERYDAY THE SAME RANGE. H/R IS SAME RANGE AS WELL..SHOULD I REALLY BE ALARMED. I KNOW I NEED THE CORRECTIVE SURGERY, BUT WHAT DO YOU THINK ABOUT THE H/R ? THANKS FOR YOUR ANSWER View Answer		2009-01-05


	Hello, I'm female,19 yrs old. I have undergone 2 cardiac surgeries for VSD at age of 2 and 6 respectively.I am now leading a normal life.I would like to know the origin of this disease, meaning, whether it is genetically inherited or not. I would like to know if there is a specified test to take in order to know the origin.Thanks a lot. View Answer		2008-12-31


	Hi. I'm engaged to a wonderful East Indian man with a congenital heart defect. He underwent open heart surgery at 26 yrs and is now 30 yrs old. He has other physical peculiarities that have me suspecting he may have some type of undiagnosed syndrome. As I'd eventually like to bear his children, I thought I'd look into it... If you think your organization may be able to help at all, please let me know. View Answer		2008-12-30


	I have inappropriate sinus tachycardia, and my 16 year old daughter has been diagnosed with the same thing. I know my father, mother, grandmother, aunt, sister, etc. have all had some of the many symptoms that I have had. Is there a genetic condition that may occur with IST? View Answer		2008-12-28


	My son has Long QT Syndrome 2 and we have also been told he has Multiple Polymorphism. Is there is information on this condition that will help me to better understand what is happening to my son. Is there any research going on that may be able to help us understand this. Please help! View Answer		2008-12-17


	I recently delivered my daughter at 20 weeks due to hypoplastic left heart syndrome. My son who is 2 has a bicuspid aortic valve and aortic reguirtation. Is there any genetic link between these two heart defects? I have heard that left side heart defects run in families but no one other than my children no one else has them. View Answer		2008-12-11


	I have wolf parkison white syndrome (sorry not sure on the spelling) and my mother who is adopted also had it. We both had to have an abblation (though I had more pathways than her) and I was wondering if my children will likely have it? My wife is 6 months so I would really like to know! Thanks for your help! View Answer		2008-12-09


	I am a 28 year old female with Long QT Syndrome. This was diagnosed ten years ago when I had my first and only cardiac event. I recieved an ICD at that time. When I had my event many of my family members have been to the doctor to also rule out LQTS. I have since had a son, who has also been diagnosed with LQTS. Recently I was tested to find out what type I carried. We found that I have the type two genetic defect. My question is this. My husband and I continue to discuss having other children. I understand the possibility of passing this on is 50/50. What I am most concerned about are the implications of other children carrying this type of LQTS might be. I am a person who looks at the glass half full. However, I do not want to put my child(ren) in danger. We also learned that with subsequent children I could be at greater risk. I am only looking for some further answers to help in our decision to have future children. View Answer		2008-11-18


	My son has Aortic Valve Stenosis at birth. After balloon dialition his condition improved very well. He neber had thriving problem, niether calcium build up. Now he is 16 months and noticed that his lower lip is becoming bigger than usual and he had hernia as well. His growth mentally and physically is very good comparing to other children in his age. Am suspecting a William Syndorme case, does the symptoms mentioned proves he caries this gene although his growth is normal? View Answer		2008-11-06


	My husband is being tested for Brugada Syndrome. He has a maternal family history of Long QT. He is not Asian decent. He is 46 years old. His mother recently had genetic testing. The test was sent to New Haven, Connecticut. It came back with KCNQ1. She now has a internal defibrillator. My husband had a syncopal episode in 2006, unexplained. His sister died 2007 at the age of 43 in her sleep. (the autopsy related this possibly to Long QT) My question is: can my husband have Brugada Syndrome and could they have not looked for this gene in his mother's study? View Answer		2008-11-03


	I am 21 years old and have recently been "temporarily" diagnosed with familial combined hyperlipidemia despite the fact that I have had abnormal Lipid panels for as long as I can remember. (Good Cholesterol was low, bad Cholesterol was high, as were triglycerides, etc.) My 20 year old brother was diagnosed with Cholesteryl ester triglyceride liver storage disease as a baby. Is it possible for both siblings carry a gene that causes that disease, or is it more likely to affect only one? View Answer		2008-08-25


	CLINICAL HISTORY (4 AFFECTED, 3 GENERATIONS): RB (deceased age 72). Onset of Afib at 32. No risks for heart disease. Low BP, slow pulse. Treated with quinidine. Sudden cardiac death at 72. MB (age 69). Onset afib age 28. Bradycardia first investigated at age 15. Treated with cardioversion and meds including quinidine, digoxin, flecainide, sotalol, propafenone, coumadin. Watchman device. Normal rt heart catheterization, EKGs, echoes, stress tests, etc. Antiarrhythmics failed. Increasing episodes. Low potassium. Thoracic ablation performed 3/07, followed in 6 weeks by cardioversion with cardiac arrest and diagnosis of severe sick sinus syndrome with implantation of dual-chamber cardiac pacemaker. NSR for 1 year. Rates were 60 (nsr), 120 or 180 (rvr). NB - Afib on propafenone. Normal studies. Age 58. Onset 30. Rates to 20 and 30 at night. Bradycardia. VG - Onset 29. No workup. Frequent bouts of afib Where is genetic testing available View Answer		2008-06-15


	I have been diagosed with mutant sodium gene, SCN5A. What type of medication should I be taking? I recently had mitral valve repair. I have had postpartum cardiomyopathy for 37 years and I am on my second ICD. Also, should my only child and her children be tested? View Answer		2008-06-02


	My nephew was diagnosed with wpw at age 15 and was on medication for 20+yrs. He was taken off all meds, but never had an ablation about 2 yrs ago. Monday evening he had a massive heart attack and expired. Is there a likelihood that had he either been on meds or had an ablation that this might have been avoided? Our family is devastated but we also have serious questions.This wonderful young man was only 39. View Answer		2008-02-07


	Hi, my younger sister was recently pregnant and the fetus was diagnosed with hypoplastic left heart syndrome (HLHS), ASD and VSD. I am aware of the increased risk of future pregnancies with congenital disorders. On top of that, I have secondary hypothyroidism from Hashimotos thyroiditis, and our older sister has alopecia. Are there any known correlations between any of these disorders? Thank you. View Answer		2008-01-24


	I am a Vietnam veteran that went through Prostrate Cancer that was linked to my exposure to Agent Orange. My 16 year old son was just diagnosed with Wolff-Parkinson-White syndrome. Could my exposure to Agent Orange have had anything to do with my sons condtion? I have an 18 year old daughter that has not had any problems. View Answer		2008-01-24


	Are there any medicines that I do not need to take becuase I have Wolf-Parkinson-White Syndrome? View Answer		2008-01-18


	My husband died in 1999 from a severly disected aorta. One morning the aorta started disecting itself. It wasn't discovered with EKG. When dye was placed into the body they were able to see the tear and then it spiraled all the way down the left side of the body. He died eight days later. After major surgery. I would like to know what caused it and will any of my four children inheirt this. Sorry for the spelling. View Answer		2007-12-28


	My 2 nieces ages 22 and 24 were diagniosed 2 1/2 years ago with familial/ primary pulmonary hypertension. DNA testing showed that it was inherited from my brother - their father. My 7 year old daughter was born with atrialventricular canal defect. What are her chances of also devekoping pulmonary hypertension? View Answer		2007-11-23


	My sibling suddenly past away at 34 from hypertrophy cardiomyopathy. The cornornor believes it was a "muted gene". Both parents have been tested and are negative for HCM. I had been advised that I have WPW. In reading information I'm not further confused. Can WPW and HCM be related by a gene? View Answer		2007-10-27


	My sister (age 52) was diagnosed this past March with a concealed WPW, after having many symptomatic episodes and SVT showing on an EKG during a severe episode. She then had an EP study/ablation which revealed a WPW on the left side with an area in the center (AV re-entry tachycardia). She had two areas ablated, and was a very long procedure. In retrospect, she'd had episodes on and off for years (since adolescence), and we never had really know what it was. When I brought our two daughters for their physical today (ages 12 & 14) and included this update in our family history, she wondered if we should get EKGs and or EP studies on our two girls, to check for this syndrome. Is there any other way, such as bloodwork, to check to see if WPW is inherited, before waiting for it to show symptoms? View Answer		2007-10-22


	My father just had a heart attack and found out that he has the epsilon 4 allele (instead of two of the normal 3 alleles) that somehow elevates his apoB levels and his LDL levels. Even with his good eating and exercise he still had this heart attack. So, I have a 50% chance of getting the same gene... so I'm wondering where I can get some more information on the physiology of how this gene affects the cholesterol and if there is anything he and I could do to combat it. Thank you for any help you can give. View Answer		2007-09-27


	My six siblings and I have produced 19 children. Out of those 19, 4 (including my 2 kids) have had septal defects (3 ASDs, 1 VSD), one had Kawasaki's, and 1 had a pacemaker at 20 for unexplained fainting. Six heart issues out of 19 in a generation seems like a number too large to ignore. Are there tests the other children, or the siblings, could have to pinpoint a cause or any further incidences? View Answer		2007-09-07


	My question is not about genetics. Some "natural" therapies regarding athersclerosis recommend oral supplements of 1-2 grams of proline daily. I am concerned that this might result in a Hyperprolinemia condition even if there is no genetic problem regarding a normal intake of proline. View Answer		2007-09-06


	My sons father has been diagnosed with Wolff Parkinson and White syndrome and i was wondering who i should speak to about weither or not my son may have inherited the condition.I am a little concerned as sometimes when i put my hand on his chest his heart seems to beat irreguarly and quite fast. Should i simply discuss this with my GP? His father and I dont usually speak and I cannot rely on any information he might provide so cannot ask him about it. Any help you might have would be appreciated. View Answer		2007-09-01


	Hi there!Recently it has been discovered that my Aunt (my Mom's sister) has 2 unruptured aneurysms on the outside of her brain. My Aunt's doctor has told her that these are hereditary and she has thus let all of us know to speak with our doctors about this. Several individuals in my family - on my mother's side have died as a result of aneurysms. All of them have been of either my Mother's generation (cousins and my Aunt who is still alive) or older (Mom's Uncle's or Aunt's ) Currently my Family Doctor is away on maternity leave. I feel that she would err on the side of caution and send me for an MRA. However, the doctor covering her has decided that I don't have to worry about it unless a closer relative, such as my mother or sister should be diagnosed with an aneurysm. With heredity aside, I do have a brain injury from a MVA (we were hit by a drunk driver) and have had a standard MRI without dye. These, I've been told by my doctor's replacement, do not show aneurysms well. My question is, do I have anything to worry about, or should I continue to trust my doctor (because I do and I have great respect for them!!) Many thanks for your advise!!! View Answer		2007-08-20


	im to marry my cousin next month and he has wolff parkinson white syndrome and he developed an attack of atrialfibrillation associated with fast ventricular response and ihe will do an ablation next week but i want to know the risk of inheritance ?and the risk that my kids will develop the disease?.specially that we did karyotyping investigations and the results were normal. View Answer		2007-08-15


	My father was diagnosed with Cardio Myopathy and has since passed away as a result of. I have been told that this could be genetic in male members of the family, having a young son myself,I am wondering if this is true and should I have him tested and if so, how often and beginning at what age? Thank you for your time. View Answer		2007-06-28


	My family has been diagnosed with Long QT Syndrome. So far we have: Husband ( has ICD) 25 year old son and 12 year old son who were both recently diagnosed. A 17 year old daughter (has ICD) and her baby who was daignosed at 8 weeks. Our other 3 sons do not seem to have it. We have lost one child from LQT and my husbands 17 year old brother. I know that LQT can be on different gene mutations. How do we determine which gene is the cause so that family members can be tested? Also seems the test should be done on my husband since he is the oldest. Any inofrmation you have on the LQT gene would be much appreciated. View Answer		2007-05-02


	My uncle and my sister were both diagnosed with WPW. I recently have been experiencing rapid heart rate and palpatations. Although, I have not yet been able to record a rate higher than 100. I have been diagnosed with about a 60% efficiency in output from my heart, whatever that means. What are my odds of having WPW? View Answer		2007-04-10


	Please help us. My identical twin sister dropped down dead on sunday evening, she went into v-fib, rythm was restored only to be lost and never restarted. she was 26 not overweight or having any other discernable health problems including alchol or drug dependance. She was also not taking any medication other than mycrogynon - a birth control pill. the corroner has been unable to pin point any cause of death. Before she collapsed she complained of a racing heart and irregular beat which i, my elder sister father and deceased grandmother (died of heart attack) also suffer from. i have been to heath professionals in the past but was dismissed without tests. I am worried that we may be in danger from a similar event occuring again. Can you suggest any genetically related disorders that I can research. our back ground is white european with a family history of brest cancer and ankylosing spondylitis. At this point we feel abandoned by our GP and very frightened. View Answer		2007-03-01


	I am 38yr old and my 2nd child was born with ASD and mitral valve prolapse. I also have hypertension, and hyercholeseremia. Do I need genetic counsleing. View Answer		2007-02-01


	My husband and I gave birth to a baby girl last Septmeber with Transposition of the Great Arteries, Double Outlet Right Ventrical, ASD, VSD and Pulmonary Stenosis. She has since passed but we are trying to find out if this could happen again. We've been told there is a slight chance she had 22q1.1-2 deletion. There are no tissue samples to test and we're not sure if we need to be tested? From what I've read, this can happen randomly or inherited. With all of her grave complications, does this seem indicative of the 22q1.1-2 deletion? View Answer		2006-08-18


	MY SON IS 24 AND HAS A ANYS. ON HIS AORTIC ROOT. HIS EJECTION FRACTION IS 30-35% AND HIS ATRIUM BEATS 148BPM AND VENTRICLE BEATS 60 BPM. HE TRIED ALTASE, BUT HIS ANYS. GOT BIGGER IN ONLY 30 DAYS WITH HIS EJECTION FRACTION ONLY GETTING WORSE. AT WHAT POINT WILL THEY DO SURGERY AND WHAT KIND OF SURGERY WILL THEY HAVE TO DO SINCE THE ANYS. IS ON THE ROOT. HEART TRANSPLANT VS. GRAFT. I UNDERSTAND MEDICAL TERMS BECAUSE I WORK IN SURGERY MYSELF AND KNOW YOU DO NOT WANT TO WAIT UNTIL IT RUPTURES. THE OUTCOMES ARE ALMOST ALWAYS BAD WHEN A RUPTRE OCCURS. I WOULD LIKE TO KNOW WHO DOES THE MOST SURGERIES FOR THIS SYNDROME AND WHERE THEY ARE LOCATED (WITH GOOD OUTCOMES). DR. ALMA DAHR IN OK CITY IS WHO MY SON IS CURRENTLY SEEING. YOUR HELP IN THIS MATTER WOULD BE GREATLY APPRECIATED. View Answer		2006-05-27


	My brother has recently been diagnosed with ihss after having a heart attack at the age of 36, our first cousin was diagnosed with the same condition at the age of 38 after having a heart attack. Both were born with heart murmurs. I am 43 and wonder if I could be at risk. Also, my son is 19 and he was born with a heart murmur that was not apparent at the age of 12 and 16 after physicals. Could he be at risk for ihss. My father and his brother are the male fathers to the two cousins listed in paragraph one. Does it run in families? Can woman get it? Thank you, Audrey Latella View Answer		2006-04-26


	I am a 45 yo female just diagnosed with PH. 5 years ago I investigated my lifelong irregular heartbeats and an echo revealed right sided heart enlargement, but no other problems. My Dr. said I had probably had atrial septal defect which healed late in life, since a bubble echo showed no hole. Since this diagnosis I have been getting increasingly SOB with exercise and developed acites. New cardiologist did echo which showed rt. enlargement (3.5) moderate PH and regurtation in tricuspid. My father (77yo) with 2yr post C ABG and 2 heart attacks, just had echo and showed rt enlargement and severe PH, bubble echo showed no hole. My daughter (17) was diagnosed with exercise induced asthma, but she has no wheezing, only SOB with exercise (she is not overweight, neither am I or Dad). My son has Raynaulds syndrome which is associated with PH. My question is how do I go about determining if there is a familial PH factor present? My dad's Dr. is through VA (hard to work with) and my dr. blew the atrial septal theory of first doctor out the window. View Answer		2006-03-30


	I have been tested for Brugada Syndrome and understand that I carry the gene but do not have the disease. Is there any recommended follow-up testing that should be carried out on any regular basis? View Answer		2006-02-23


	Do people with Brugada syndrome suffer from common symptoms that can be identified? What are some of these symptoms? Once these symptoms are identified, can the person be cured of it? View Answer		2006-02-04


	My paternal grandfather, my father and all of his brothers died of hereditary heart disease before the age of 50. NONE of the females have inherited this heart disease. Does this mean the males carry the gene and not the females? View Answer		2005-09-14

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