Congenital Heart Disease
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Presenter: Dr. Andrew Waxman, DVM, DACVIM (Cardiology) Hosted by Upstate Veterinary Specialties Session Description: Congenital heart diseases are abnormalities of the cardiovascular system which are present at birth. The exact underlying factors are not always understood but are suspected of genetic origin in dogs and cats. Some of the most common diseases include patent ductus arteriosus, pulmonic stenosis, subaortic stenosis, tricuspid valve dysplasia, and ventricular septal defects. These conditions can vary from innocent to life-threatening. This lecture will help participants understand the examination findings, the most common treatment options (if available), and breeding considerations regarding congenital heart disease in dogs and cats. There will also be some discussion about innocent murmurs in young patients.
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Congenital Heart Disease
- 1. CONGENITAL HEART DISEASE Andrew S. Waxman April 26, 2022
- 2. • Heritable – Genetically programed to develop – May be present at birth or develop with aging • Congenital – Defect present at birth – May or may not be inherited HERITABLE VS. CONGENITAL
- 3. • A FORM OF HEART DISEASE THE ANIMAL IS BORN WITH • TYPICALLY DETECTED AT LESS THAN 6 MONTHS OF AGE • NOT UNCOMMON TO DETECT AT OLDER AGES • WHILE THE DEFECT REMAINS UNCHANGED, REMODELING OF THE HEART IS OFTEN PROGRESSIVE • BREED CAN BE HELPFUL FOR DIFFERENTIALS WHAT IS A CONGENITAL HEART DISEASE?
- 4. WWW.UVSONLINE.CO M Murmur grade • Grade 6: audible murmur with stethoscope off the chest wall • Grade 5: a palpable thrill is present • Grade 4: radiates with no point of maximal intensity (no thrill) • Grade 3: audible in multiple locations but with a point of maximal intensity • Grade 2: quiet, focal murmur with no radiation • Grade 1: audible in a quiet room with a cooperative patient breathing quietly, +/- intermittent EXAMINATION
- 7. • USUALLY SOFT GRADE I-II/VI SYSTOLIC MURMUR • GRADE III/VI OR GREATER OR CONTINUOUS MURMUR CONCERNING FOR CONGENITAL DISEASE • MOST “INNOCENT” PUPPY/KITTEN MURMURS DISAPPEAR AT ~16 WEEKS • CAUSE NOT CLEAR Relative stenosis Mild neonatal anemia AV chordae tendineae laxity PUPPY/KITTEN MURMURS
- 8. DOGS Patent Ductus Arteriosus (PDA) 27.7% Subaortic Stenosis (SAS) 25.5 % Pulmonic Stenosis (PS) 20.8 % Ventricular Septal Defect (VSD) 9.8% Tricuspid Valve Dysplasia (TVD) 5.1 % Tetralogy of Fallot (TF) 3.9 % The numbers vary per study, the top 3 may switch around CATS Ventricular Septal Defect Patent Ductus Arteriosus Mitral Valve Dysplasia MOST COMMON FORMS OF CHD
- 9. PHYSICAL EXAMINATION RADIOGRAPHY ELECTROCARDIOGRAPHY (EKG, HOLTER) ECHOCARDIOGRAPHY/DOPPLER ANGIOCARDIOGRAPHY CT SCAN DIAGNOSTICS
- 10. MINIATURE AND TOY POODLES GERMAN SHEPHERD AMERICAN COCKER SPANIEL COLLIE POMERANIAN SHETLAND SHEEPDOG PATENT DUCTUS ARTERIOSUS (PDA) http://www.greatdogsite.com/admin/uploaded_files/1198060883toy_poodle.jpg
- 11. WWW.UVSONLINE.CO M Footer Normal fetal structure Bypasses lungs in fetal life, when pulmonary vascular resistance high PATENT DUCTUS ARTERIOSUS (PDA)_
- 12. PATENT DUCTUS ARTERIOSUS (PDA) 120/80 25/10
- 13. WWW.UVSONLINE.CO M Loud continuous murmur on left side Described as washing machine sound Can often feel the murmur There is risk of congestive heart failure at <2 years of age Medical management helpful with clinical signs or severe disease If murmur detected refer to cardiologist PATENT DUCTUS ARTERIOSUS
- 14. WWW.UVSONLINE.CO M ” “ PATENT DUCTUS ARTERIOSUS Footer Cardiomegaly Left atrial and auricular enlargement Left ventricle rounded and long Pulmonary vasculature prominent 3 ‘bumps’ Aorta, Pulmonary Artery, Left Auricle
- 15. WWW.UVSONLINE.CO M • Intervention is possible • PDA Amplatz occluder device developed for specifically for dogs is highly successful • Size is a factor • Standard surgical ligation always available • Left patent the dog is predisposed to early congestive heart failure and irreversible changes to the heart. PATENT DUCTUS ARTERIOSUS
- 17. WWW.UVSONLINE.CO M Eisenmenger syndrome Pulmonary hypertension Suprasystemic pulmonary pressure leading to right to left shunting PATENT DUCTUS ARTERIOUSUS – RIGHT TO LEFT SHUNTING
- 18. WWW.UVSONLINE.CO M Examination Murmur? Differential cyanosis Echocardiogram Contrast study Where to look? Labs Polycythemia-phlebotomy vs chemical Lower pulmonary pressures Sildenafil PATENT DUCTUS ARTERIOSUS – RIGHT TO LEFT SHUNTING
- 19. WWW.UVSONLINE.CO M • Auscultation is the main method of screening • Most affected/uncorrected dogs show signs early in life and are unable to breed • Affected/corrected dogs should not be bred • Proven hereditary in the poodle, suspected in other breeds BREEDING CONSIDERATIONS
- 20. HEREDITARY IN DOGS PDA x PDA 80% offspring have PDA PDA x 1st degree relative of PDA 70% defective PATENT DUCTUS ARTERIOSUS
- 21. • NEWFOUNDLAND • GOLDEN RETRIEVER • ENGLISH BULLDOG • BOXER • GERMAN SHEPHERD • GERMAN SHORT-HAIRED POINTER • ROTTWEILER SUBAORTIC STENOSIS (SAS) http://www.dog-pictures.co.uk/images/newfoundland-dog-picture.jpg
- 22. • CONDITION DESCRIBED BY OBSTRUCTION TO LEFT VENTRICULAR OUTFLOW DUE TO A SUBAORTIC VALVE NARROWING • Grade 1: small raised nodules on the septum • Grade 2: narrow ridge extending partially around outflow tract • Grade 3: fibrous band, ridge, or collar completely encircling outflow tract SUBAORTIC STENOSIS
- 24. • MURMUR LOUDEST ON LEFT SIDE • PULSE QUALITY IS REDUCED (PULSUS PARVUS ET TARDUS) • GRADE OF MURMUR LOOSELY CORRELATES WITH SEVERITY • DOGS WITH MODERATE TO SEVERE DISEASE CAN COLLAPSE WITH EXERCISE/EXCITEMENT • SEVERELY AFFECTED DOGS PREDISPOSED TO SUDDEN DEATH • REGARDLESS OF WHETHER INTERVENTION IS PURSUED I RECOMMEND BETA- BLOCKADE WITH ATENOLOL AT 1-1.5 MG/KG PO BID SUBAORTIC STENOSIS
- 25. WWW.UVSONLINE.CO M Myocardial oxygen demand Afterload Contractility Heart rate Obstructive diseases Increased muscle wall thickness Increased oxygen demand Oxygen starvation leads to myocyte necrosis and arrhythmias Beta-blockers BETA BLOCKERS IN OBSTRUCTIVE DISEASE
- 26. • SCREENING IS HISTORICALLY BASED ON AUSCULTATION IN PREDISPOSED BREEDS • DOPPLER/ECHOCARDIOGRAM RECOMMENDED TO FIND SUBTLE SUBAORTIC ABNORMALITIES • GENETIC TESTING FOR THE NEWFOUNDLAND NOW AVAILABLE • PICALM gene mutation via UC Davis • AVOID MATING PAIRS PRODUCING AFFECTED PUPS CHD BREEDING CONSIDERATIONS 26
- 29. ENGLISH BULLDOG FOX TERRIER MINIATURE SCHNAUZER CHIHUAHUA, BEAGLE SAMOYED, BOXER BULL MASTIFF AMERICAN COCKER SPANIEL WEST HIGHLAND WHITE TERRIER PULMONIC STENOSIS (PS) http://www.edrants.com/wp-content/uploads/2009/02/arnie.jpg
- 30. • THE OBSTRUCTION TO FLOW IS MOST COMMONLY AT THE VALVULAR LEVEL WITH DYSPLASIA AS THE CAUSE • CASES OF SUBVALVULAR AND SUPRAVALVULAR STENOSIS ARE REPORTED • DYSPLASTIC VALVES OCCUR IN 2 MAJOR GRADES • Grade 1: Mild thickening and fusion, no to minimal obstruction • Grade 2: Moderate to severe thickening and fusion, moderate to severe obstruction PULMONIC STENOSIS (PS)
- 31. • MURMUR LOUDEST ON LEFT SIDE • PULSE QUALITY IS USUALLY NORMAL • GRADE OF MURMUR LOOSELY CORRELATES WITH SEVERITY • DOGS WITH MODERATE TO SEVERE DISEASE CAN COLLAPSE WITH EXERCISE/EXCITEMENT • SEVERELY AFFECTED DOGS PREDISPOSED TO SUDDEN DEATH • LONG TERM PROGNOSIS IS DIFFICULT TO PREDICT IN SEVERE CASES • REGARDLESS OF WHETHER INTERVENTION IS PURSUED I RECOMMEND BETA- BLOCKADE WITH ATENOLOL AT 1-1.5 MG/KG PO BID PULMONIC STENOSIS
- 33. • Screening via auscultation is typical • No genetic testing is available • Avoid breeding pairs that produce affected pups • Proven heritable in the Beagle, but likely polygenic BREEDING CONSIDERATIONS
- 34. WWW.UVSONLINE.CO M • Intervention is possible • Fused valve leaflets amenable to balloon valvuloplasty • Successful procedures able to reduce gradient in half • ~80% of dogs with signs showed improvement • ~50% reduction of hazard ratio for dogs undergoing BV PULMONIC STENOSIS Estrada, A Journal of veterinary cardiology
- 35. WWW.UVSONLINE.CO M More severe and complex 2 obstructive lesions High incidence of pulmonary truck hypoplasia High incidence of cardiac death Strong association between prognosis and tricuspid regurgitation severity PULMONIC STENOSIS IN THE FRENCH BULLDOG
- 36. WWW.UVSONLINE.CO M Predominately English Bulldogs but other breeds recognized R2A recognized in dogs and causes pulmonic stenosis Risk of coronary rupture with balloon valvuloplasty CORONARY ANOMALY AND PULMONIC STENOSIS
- 37. ENGLISH SPRINGER SPANIEL ENGLISH BULLDOG BOXER KEESHOND VENTRICULAR SEPTAL DEFECT (VSD) http://www.kennels.co.uk/images/G.English.Springer.jpg
- 38. • VARIABLE GRADE MURMUR HEARD LOUDEST ON RIGHT SIDE • MURMUR GRADE OFTEN INVERSELY RELATED TO SEVERITY • FORTUNATELY, MOST ARE SMALL DEFECTS WITH MINIMAL IMPACT ON HEART • DOGS WITH LARGE DEFECTS LIKELY DIE AT YOUNG AGE • MODERATE DEFECTS DIFFICULT TO PREDICT OUTCOMES • CORRECTIVE PROCEDURES RARELY PERFORMED (BUT POSSIBLE) VENTRICULAR SEPTAL DEFECT
- 40. • SCREENING VIA AUSCULTATION • NO GENETIC TESTING AVAILABLE • IN THE ENGLISH BULLDOG AND KEESHOND THE TRAIT IS AUTOSOMAL RECESSIVE • No genetic test • Certainly avoid breeding if any offspring produce affected pups BREEDING CONSIDERATIONS
- 41. LABRADOR RETRIEVER GERMAN SHEPHERD OLD ENGLISH SHEEPDOGS GREAT DANES IRISH SETTERS TRICUSPID VALVE DYSPLASIA (TVD) http://www.offroaders.com/directory/animals/images/Labrador_Retriever_chocolate_named_Hershey-s.jpg
- 42. WWW.UVSONLINE.CO M • Variable grade murmur on right side • Characteristic valve changes • Short tethered septal leaflet • Elongated free wall leaflet • Abnormal papillary muscles • Apical displacement of tricuspid annulus • Severely affected animals present young with abdominal fluid • Mild to moderately affected dogs less predictable disease course • Medical therapy can be helpful • Prosthetic valve replacement available TRICUSPID VALVE DYSPLASIA
- 44. • AUSCULTATION MAY REVEAL RIGHT SIDED HEART MURMUR • DOPPLER/ECHOCARDIOGRAM IS MORE SENSITIVE • May miss equivocal cases • TVD MAPPED TO CHROMOSOME 9 IN THE LABRADOR, BUT NO GENETIC TEST IS AVAILABLE • Autosomal dominant with variable penetrance BREEDING CONSIDERATIONS
- 45. WWW.UVSONLINE.CO M Dilated Cardiomyopathy Hypertrophic Cardiomyopathy Myxomatous Mitral Valve disease Arrhythmogenic Right Ventricular Cardiomyopathy HERITABLE HEART DISEASES
- 46. Doberman pinscher, boxer dog, great Dane, Labrador retriever, American cocker spaniel, golden retriever, Irish wolfhound, Saint Bernard, English springer spaniel, Newfoundland retriever, English sheepdog, Afghan hound, Scottish deerhound, and English cocker spaniel DILATED CARDIOMYOPATHY (DCM)
- 47. • INHERENT DECREASE IN MYOCARDIAL CONTRACTILITY • MOST CASES ARE PRIMARY OR IDIOPATHIC • LESS COMMON ARE SECONDARY CAUSES • Adriamycin induced • Taurine/Carnitine deficiencies • Diet-related • MISNOMER IN THE COMMON NAME • Dilation is secondary, myocardial failure is primary DILATED CARDIOMYOPATHY
- 48. • CLINICAL SIGNS UNLIKELY PRIOR TO ONSET OF CONGESTIVE HEART FAILURE • Rare indication of disease prior to signs, no murmur • Most common preclinical finding is an arrhythmia (VPC) during routine examination • SOME PATIENTS PRESENT FOR SYNCOPE • NOT UNCOMMON TO HAVE SIGNS OF RIGHT AND LEFT SIDED CONGESTIVE HEART FAILURE • MANY ARE COMPOUNDED WITH ATRIAL FIBRILLATION AND VENTRICULAR ARRHYTHMIAS SIGNALMENT/HISTORY
- 49. X-rays
- 50. Echo loops
- 51. Echocardiography
- 52. • TROPONIN I ELEVATED IN DOGS WITH CLINICAL DCM AND INCREASES WITH SEVERITY • However, poor screening tool • ECHOCARDIOGRAPHY • Defined cutoffs for affected Dobermans • Tissue Doppler may find affected dogs earlier than standard Echocardiography • HOLTER MONITORING • >50 VPCs or complex arrhythmias will develop or likely carry genetics of DCM • EXACT TRANSMISSION UNKNOWN • Maybe sex-linked as more males affected BREEDING CONSIDERATIONS
- 53. • MOST COMMON STRUCTURAL CARDIAC DISEASE IN CATS • THE DISEASE IS CHARACTERIZED BY PRIMARY CONCENTRIC HYPERTROPHY OF THE MYOCARDIUM • SECONDARY HYPERTROPHY IS TECHNICALLY NOT HCM • AGE OF ONSET IS VARIABLE, VERY YOUNG ARE NOT AN EXCEPTION • FAMILIAL COMPONENT RECOGNIZED IN MAINE COON CATS, OTHER PUREBRED LINES AS WELL • OFTEN ASYMPTOMATIC UNTIL CONGESTIVE HEART FAILURE OCCURS • A MURMUR OR GALLOP MAY BE DETECTED PRIOR TO CLINICAL SIGNS HYPERTROPHIC CARDIOMYOPATHY
- 54. • NT-PROBNP • has been useful in discriminating cardiac vs. non-cardiac causes. • Can detect severe HCM, but little utility as a screening tool. • TROPONIN • Overlap in cardiac vs. non-cardiac groups • Also elevated in hyperthyroid cats • MYOSIN-BINDING PROTEIN C (MYBPC3) MUTATIONS • A31P for Maine Coon • R820W for Ragdoll BREEDING CONSIDERATIONS
- 55. Echocardiography
- 56. Normal Cat M-mode HCM M-mode
- 57. Poodle (miniature and toy), miniature schnauzer, cocker spaniel, Chihuahua, fox terrier, dachshund, and Boston terrier Special note is the Cavalier breeds with early onset disease MYXOMATOUS MITRAL VALVE DISEASE
- 58. • MOST COMMON SMALL ANIMAL CARDIOVASCULAR DISEASE (75%) • MOST PATIENTS HAVE NO HISTORY OF CLINICAL DISEASE PRIOR TO THE ONSET OF CONGESTIVE HEART FAILURE • FIRST DETECTION OF DISEASE IS ONSET OF LEFT APICAL MURMUR SIGNALMENT/HISTORY
- 60. Echocardiography
- 61. Color Doppler
- 62. • AUSCULTATION IS TYPICAL FOR SCREENING • PRE-BREEDING SCREENS ARE ALMOST EXCLUSIVELY RELATED TO THE CAVALIER BREED • Breeding recommendations mandatory as part of the Danish Kennel Club • 8-10 year results are showing reduction in early onset of this disease • NO GENETIC TESTING AVAILABLE • Mode is thought to be polygenic BREEDING CONSIDERATIONS
- 63. ALMOST EXCLUSIVELY BOXER DOGS CAN AFFECT OTHER BRACHYCEPHALIC BREEDS ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY
- 64. • GENERALLY AN ADULT PROCESS BUT CAN AFFECT AT ANY AGE • CAN BE COMPLETELY ASYMPTOMATIC UNTIL AN EPISODE OF COLLAPSE OR SUDDEN DEATH • ARRHYTHMIA ON EXAM OF A BOXER IS CONCERNING • ON AUTOPSY THERE IS CHARACTERISTIC FIBROFATTY REPLACEMENT OF HEART TISSUE (USUALLY RIGHT VENTRICULAR) • ARRHYTHMIA FREQUENCY CAN VARY SIGNIFICANTLY DAY TO DAY • Repeat Holter in suspicious cases SIGNALMENT/HISTORY 64
- 65. Footer 65
- 67. • ANNUAL HOLTER EXAMINATIONS ARE RECOMMENDED • >50 VPCs/24 hours is suspicious • >300 VPCs or complex technically affected • ECHOCARDIOGRAPHY RECOMMENDED • GENETIC TESTING • Striatin mutation found linked to affected dogs • Test commercially available • Recommend additional testing if desirable dog is a carrier BREEDING CONSIDERATIONS
- 69. • BE SURE TO COMPLETE THOROUGH PUPPY/KITTEN PHYSICAL EXAMINATION • IF INTERVENTION IS POSSIBLE, THE EARLIER THE BETTER • REFER TO CARDIOLOGIST IF MURMUR IS PRESENT PAST 16 WEEKS • SCREENING IS RECOMMENDED FOR PREDISPOSED BREEDS SUMMARY
- 70. QUESTIONS? 70